A Brief Overview of Human Genetic Engineering – BiologyWise

Human genetic engineering is about genetically engineering human beings by modifying their genotypes before birth. The Genotype is the genetic constitution of an individual with respect to a particular character under consideration. The engineering is done to control the traits possessed by the individual after his/her birth.

The cells of our body contain encoded information about the body's growth, structure, and functioning in the form of genes. Human genetic engineering aims at decoding this information and applying it to the welfare of mankind.

There are two types of genetic engineering. They are:

In human genetic engineering, the genes or the DNA of a person is changed. This can be used to bring about structural changes in human beings. More importantly, it can be used to introduce the genes for certain positive and desirable traits in embryos. Genetic engineering in humans can result in finding a permanent cure for many diseases.

There are people with certain exceptional qualities. If the genes responsible for these qualities can be identified, they can be implanted in the early embryos. This can lead to something like 'customized babies'. Human genetic engineering might progress to such an extent that it will be possible to discover new genes and embed them into unborn babies.

The Brighter SideGene therapy is one of the most important benefits of human genetic engineering. Over the past decade, gene therapy has succeeded in finding treatments for certain heart diseases. Researchers hope to find cures for all the genetic diseases. This will result in a healthier and more evolved human race.

A future benefit of human genetic engineering is that a fetus with a genetic disorder will be treated before the baby is born. Parents will be able to look forward to a healthy baby. In case of in-vitro fertilization, gene therapy can be used for embryos before they are implanted into the mother.

Genes can be cloned to produce pharmaceutical products of superior quality. Researchers are hopeful about being able to bio-engineer plants or fruits to contain certain drugs.

The Darker SideFirstly, while it seems easy to cure diseases by genetic modifications, gene therapy may produce side effects. While treating one defect, it may cause another. Any given cell is responsible for many activities and manipulating its genes may not be that easy.

The process of cloning can lead to risking the fundamental factors such as individuality and the diversity of human beings. Ironically, man will become just another man-made thing!

There are certain social aspects to human genetic engineering. This new form of medical treatment can impose a heavy financial burden on the society. Along with its feasibility, its affordability will also determine its popularity.

Human genetic engineering is a widely growing field. It can work miracles. But its benefits and threats need to be assessed carefully. The potential advantages of the field can come into reality only if genetic engineering of humans is handled with responsibility.

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A Brief Overview of Human Genetic Engineering - BiologyWise

Human or Superhuman? – National Catholic Register

Church Teaching on Genetic Engineering: May 6 issue column.

Human genetic engineering has always been the stuff of science-fiction novels and blockbuster Hollywood films. Except that it is no longer confined to books and movies.

Scientists and doctors are already attempting to genetically alter human beings and our cells. And whether you realize it or not, you and your children are being bombarded in popular media with mixed messages on the ethics surrounding human genetic engineering.

So what does the Church say about the genetic engineering of humans?

The majority of Catholics would likely say that the Church opposes any genetic modification in humans. But that is not what our Church teaches. Actually, the Church does support human genetic engineering; it just has to be the right kind.

Surprised? Most Catholics probably are.

To understand Catholic Church teaching on genetic engineering, it is critical to understand an important distinction under the umbrella of genetic engineering: the difference between therapy and enhancement. It is a distinction that every Catholic should learn to identify, both in the real world and in fiction. Gene therapy and genetic enhancement are technically both genetic engineering, but there are important moral differences.

For decades, researchers have worked toward using genetic modification called gene therapy to cure devastating genetic diseases. Gene therapy delivers a copy of a normal gene into the cells of a patient in an attempt to correct a defective gene. This genetic alteration would then cure or slow the progress of that disease. In many cases, the added gene would produce a protein that is missing or not functioning in a patient because of a genetic mutation.

One of the best examples where researchers hope gene therapy will be able to treat genetic disease is Duchenne Muscular Dystrophy or DMD. DMD is an inherited disorder where a patient cannot make dystrophin, a protein that supports muscle tissue. DMD strikes in early childhood and slowly degrades all muscle tissue, including heart muscle. The average life expectancy of someone with DMD is only 30 years.

Over the last few years, researchers have been studying mice with DMD. They have been successful in inserting the normal dystrophin gene into the DNA of the mice. These genetically engineered mice were then able to produce eight times more dystrophin than mice with DMD. More dystrophin means more muscle, which, in the case of a devastating muscle-wasting disease like DMD, would be a lifesaver.

Almost immediately after the announcement of this breakthrough, the researchers were inundated with calls from bodybuilders and athletes who wanted to be genetically modified to make more muscle.

The callers essentially wanted to take the genetic engineering designed to treat a fatal disease and apply it to their already healthy bodies.

Genetically engineering a normal man who wants more muscle to improve his athletic ability is no longer gene therapy. Instead, it is genetic enhancement.

Genetic enhancement would take an otherwise healthy person and genetically modify him to be more than human, not just in strength, but also in intelligence, beauty or any other desirable trait.

So why is the distinction between gene therapy and genetic enhancement important? The Catholic Church is clear that gene therapy is good, while genetic enhancement is morally wrong.

Why? Because gene therapy seeks to return a patient to normal human functioning. Genetic enhancement, on the other hand, assumes that mans normal state is flawed and lacking, that mans natural biology needs enhancing. Genetic enhancement would intentionally and fundamentally alter a human being in ways not possible by nature, which means in ways God never intended.

The goal of medical intervention must always be the natural development of a human being, respecting the patients inherent dignity and worth. Enhancement destroys that inherent dignity by completely rejecting mankinds natural biology. From the Charter for Health Care Workers by the Pontifical Council for Pastoral Assistance:

In moral evaluation, a distinction must be made between strictly therapeutic manipulation, which aims to cure illnesses caused by genetic or chromosome anomalies (genetic therapy), and manipulation, altering the human genetic patrimony. A curative intervention, which is also called genetic surgery, will be considered desirable in principle, provided its purpose is the real promotion of the personal well-being of the individual, without damaging his integrity or worsening his condition of life.

On the other hand, interventions which are not directly curative, the purpose of which is the production of human beings selected according to sex or other predetermined qualities, which change the genotype of the individual and of the human species, are contrary to the personal dignity of the human being, to his integrity and to his identity. Therefore, they can be in no way justified on the pretext that they will produce some beneficial results for humanity in the future. No social or scientific usefulness and no ideological purpose could ever justify an intervention on the human genome unless it be therapeutic; that is, its finality must be the natural development of the human being.

So genetic engineering to cure or treat disease or disability is good.

Genetic engineering to change the fundamental nature of mankind, to take an otherwise healthy person and engineer him to be more than human is bad.

There is much misinformation surrounding the Catholic Churchs teaching on human genetic engineering. One example is in a piece in The New York Times by David Frum. Frum states that John Paul II supported genetic enhancement and, therefore, the Church does as well. Frum performs a sleight of hand, whether intentional or not. See if you can spot it:

The anti-abortion instincts of many conservatives naturally incline them to look at such [genetic engineering] techniques with suspicion and, indeed, it is certainly easy to imagine how they might be abused. Yet in an important address delivered as long ago as 1983, Pope John Paul II argued that genetic enhancement was permissible indeed, laudable even from a Catholic point of view, as long as it met certain basic moral rules. Among those rules: that these therapies be available to all.

Frum discusses enhancement and therapy as if they are the same. He equates them using the words therapies and enhancement interchangeably. Because John Paul II praised gene therapy, the assumption was that he must laud genetic enhancement as well. This confusion is common because, many argue, there is not a technical difference between therapy and enhancement, so lumping them together is acceptable.

Catholics must not fall into this trap. Philosophically, gene therapy and genetic enhancement are different. One seeks to return normal functioning; the other seeks to take normal functioning and alter it to be abnormal.

There are practical differences between therapy and enhancement as well. Genetic engineering has already had unintended consequences and unforeseen side effects. Gene-therapy trials to cure disease in humans have been going on for decades. All has not gone as planned. Some patients have developed cancer as a result of these attempts at genetically altering their cells.

In 1999, a boy named Jesse Gelsinger was injected with a virus designed to deliver a gene to treat a genetic liver disease. Jesse could have continued with his current treatment regime of medication, but he wanted to help others with the same disorder, so he enrolled in the trial. Tragically, Jesse died four days later from the gene therapy he received.

In 2007, 36-year-old mother Jolee Mohr died while participating in a gene-therapy trial. She had rheumatoid arthritis, and just after the gene therapy (also using a virus for delivery) was injected into her knee, she developed a sudden infection that caused organ failure. An investigat
ion concluded that her death was likely not a direct result of the gene therapy, but some experts think that with something as treatable as rheumatoid arthritis she should never have been entered into such a trial. They argued that, because of the risks, gene therapy should only be used for treating life-threatening illness.

In other words, genetic engineering should only be tried in cases where the benefits will outweigh the risks, as in the treatment of life-threatening conditions. Currently, gene therapy is being undertaken because the risk of the genetic engineering is outweighed by the devastation of the disease it is attempting to cure. With the risks inherent in genetic modification, it should never be attempted on an otherwise healthy person.

You may be thinking that such risky enhancement experiments would never happen. Scientists and doctors would never attempt genetic modifications in healthy humans; human enhancements only exist in science fiction and will stay there. Except science and academia are already looking into it.

The National Institutes of Health (NIH) has awarded Maxwell Mehlman, director of the Law-Medicine Center at Case Western Reserve University School of Law, $773,000 to develop standards for tests on human subjects in genetic-enhancement research. Research that would take otherwise normal humans and make them smarter, stronger or better-looking. If the existing human-trial standards cannot meet the ethical conditions needed for genetic-enhancement research, Mehlman has been asked to recommend changes.

In a recent paper in the journal Ethics, Policy & Environment, S. Matthew Liao, a professor of philosophy and bioethics at New York University, explored ways humanity can change its nature to combat climate change. One of the suggestions Liao discusses is to genetically engineer human eyes to be like cat eyes so we can all see in the dark. This would reduce the need for lighting and reduce energy usage. Liao also discusses genetically modifying our offspring to be smaller so they eat less and use fewer resources.

Of course, Liao insists these are just discussions of possibilities, but what begins as discussions among academics often becomes common among the masses.

Once gene therapy has been perfected and becomes a mainstream treatment for genetic disease, the cries for genetic enhancement will be deafening. The masses will scream that they can do to their bodies as they wish and they wish to no longer be simply human. They wish to be super human.

And with conscience clauses for medical professionals under attack, doctors and nurses may be unable to morally object to genetically altering their perfectly healthy patient or a parents perfectly healthy child.

It is important for Catholics to not turn their backs on technical advancements in biotechnology simply because the advancements are complex.

We can still influence the public consciousness when it comes to human genetic engineering. We are obliged to loudly draw the line between therapy and enhancement otherwise, society, like Frum, will confuse the two.

It is not too late to make sure medically relevant genetic engineering does not turn into engineering that forever changes the nature of man.

Rebecca Taylor is a clinicallaboratory specialist inmolecular biology.She writes about bioethics on her

blog Mary Meets Dolly.

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Human or Superhuman? - National Catholic Register

Scientists Conduct Grisly Experiments Modifying the DNA of Human Embryos – LifeNews.com

Scientists in Oregon have successfully genetically modified human embryos, according to researchpublished earlier this month. The researchers used a gene editing technique called CRISPR to repair a disease-causing mutation.

In altering the DNA code of human embryos, explains the MIT Technology Review, the objective of scientists is to show that they can eradicate or correct genes that cause inherited disease, like the blood condition beta-thalassemia. The process is termed germline engineering because any genetically modified child would then pass the changes on to subsequent generations via their own germ cellsthe egg and sperm.

Preventing disease is a noble goal. And gene editing technology has already been used in born human beings for therapeutic purposes. Genetic engineering of embryos, however, raises a number of ethical issues.

First, the research involves the creation and intentional destruction of human embryos. Human embryos are living members of our species (human beings) at the embryonic stage of their lives. Each one of us, indeed, was once an embryo.

The Oregon scientists produced more than 100 of these young humans solely in order to experiment on them. They were utilized to test gene editing methods that could possibly benefit other human beings in the future. Then they were killed.

These human beings were treated like disposable material. They were treated like things that we use rather than human beings whom we respect. Thats profoundly wrong.

The assumptionof researchers engaged in embryo-destructive work is that some members of our species (like potential beneficiaries of the research) matter morally and deserve respect and compassion while other members of our species (the tiny human beings who are destroyed) dont matter and may be used and discarded by the rest of us in any way we see fit.

But theres no such thing as a disposable human being. We all matter.

Second, germline engineering is controversial in itself. One concern is safety. These mutations could be passed down through the germline to future generations with unknown implications for everyone, writes Dr. David Prentice of the Charlotte Lozier Institute. We dont know the long-term risks of making such genetic modifications.

Follow LifeNews.com on Instagram for pro-life pictures.

Another concern is more fundamental. Genetic engineering could be used not only to prevent health problems, but to choose particular favored traits (e.g., eye color, athletic skill, intellectual ability). It could be used to create so-called designer babies.

This is a form of eugenicsan effort to produce enhanced or superior or more desirable human beings. Indeed, Oxford bioethicist Julian Savulescu (among others) arguesthat we have a moral obligation to eugenically engineer our children.

But eugenic thinking can undermine a societys commitment to human equality and to the dignity of human beings who are weak, sick, disabled, or imperfect.

David Albert Jones, director of the Anscombe Bioethics Centre, summarizes these moral dangers of genetically engineering human embryos. Instead of treating existing human beings in ways that respect their rights and do not pose excessive risks to them or to future generations, he writes, we are manufacturing new human beings for manipulation and quality control, and experimenting on them with the aim of forging greater eugenic control over human reproduction.

Science is powerful. Research is important. But they must always respect the dignity and rights of human beings.

LifeNews.com Note: Paul Stark is a member of the staff of Minnesota Citizens Concerned for Life, a statewide pro-life group.

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Scientists Conduct Grisly Experiments Modifying the DNA of Human Embryos - LifeNews.com

Genetically Engineering Pigs to Grow Organs for People – The Atlantic

The idea of transplanting organs from pigs into humans has been around for a long time. And for a long time, xenotransplantsor putting organs from one species into anotherhas come up against two seemingly insurmountable problems.

The first problem is fairly intuitive: Pig organs provoke a massive and destructive immune response in humansfar more so than an organ from another person. The second problem is less obvious: Pig genomes are rife with DNA sequences of viruses that can infect human cells. In the 1990s, the pharmaceutical giant Novartis planned to throw as much $1 billion at animal-to-human transplant research, only to shutter its research unit after several years of failed experiments.

Quite suddenly, however, solving these two problems has become much easier and much faster thanks to the gene-editing technology CRISPR. With CRISPR, scientists can knock out the pig genes that trigger the human immune response. And they can inactivate the virusescalled porcine endogenous retroviruses, or PERVsthat lurk in the pig genome.

On Thursday, scientists working for a startup called eGenesis reported the birth of 37 PERV-free baby pigs in China, 15 of them still surviving. The black-and-white piglets are now several months old, and they belong to a breed of miniature pigs that will grow no bigger than 150 poundswith organs just the right size for transplant into adult humans.

eGenesis spun out of the lab of the Harvard geneticist George Church, who previously reported inactivating 62 copies of PERV from pig cells in 2015. But the jump from specialized pig cells that grow well in labs to living PERV-free piglets wasnt easy.

We didnt even know we could have viable pigs, says Luhan Yang, a former graduate student in Churchs lab and co-founder of eGenesis. When her team first tried to edit all 62 copies in pig cells that they wanted to turn into embryos, the cells died. They were more sensitive than the specialized cell lines. Eventually Yang and her team figured out a chemical cocktail that could keep these cells alive through the gene-editing process. This technique could be useful in large-scale gene-editing projects unrelated to xenotransplants, too.

When Yang and her team first inactivated PERV from cells in a lab, my colleague Ed Yong suggested that the work was an example of CRISPRs power rather than a huge breakthrough in pig-to-human transplants, given the challenges of immune compatibility. And true, Yang and Church come at this research as CRISPR pioneers, but not experts in transplantation. At a gathering of organ-transplantation researchers last Friday, Church said that his team had identified about 45 genes to make pig organs more compatible with humans, though he was open to more suggestions. I would bet we are not as sophisticated as we should be because weve only been recently invited [to meetings like this], he said. Its an active area of research for eGenesis, though Yang declined to disclose what the company has accomplished so far.

Its great genetic-engineering work. Its an accomplishment to inactivate that many genes, says Joseph Tector, a xenotransplant researcher at the University of Alabama at Birmingham.

Researchers like Tector, who is also a transplant surgeon, have been chipping away at the problem of immune incompatibility for years, though. CRISPR has sped up that research, too. The first pig gene implicated in the human immune response as one involved in making a molecule called alpha-gal. Making a pig that lacked alpha-gal via older genetic-engineering methods took three years. Now from concept to pig on the ground, its probably six months, says Tector.

Using CRISPR, his team has created a triple-knockout pig that lacks alpha-gal as well as two other genes involved in molecules that that provoke the human immune systems immediate hyperacute rejection of pig organs. For about 30 percent of people, the organs from these triple-knockout pigs should not cause hyperacute rejection. Tector thinks the patients who receive these pig organs could then be treated with the same immunosuppressant drugs that recipients take after an ordinary human-to-human transplant.

Tector and David Cooper, another transplant pioneer, were both recently recruited to the University of Alabama at Birmingham for a xenotransplant program funded by United Therapeutics, a Maryland biotech company that wants to manufacture transplantable organs.

Cooper has transplanted kidneys from pigs engineered by United Therapeutics to have six mutations, which lasted over 200 days in baboons. The result is promising enough that he says human trials could begin soon. These pigs were not created using CRISPR and they are not PERV-free, though recent research has suggested that PERV may not be that harmful to humans. It will be up to the FDA to decide whether pig organs with PERV are safe enough to transplant into people.

If it happens, routine pig-to-human transplants could truly transform healthcare beyond simply increasing the supply. Organs would go from a product of chancesomeone young and healthy dying, unexpectedlyto the product of a standardized manufacturing process. Its going to make such a huge difference that I dont think its possible to conceive of it, says Cooper. Organ transplants would no longer have to be emergency surgeries, requiring planes to deliver organs and surgical teams to scramble at any hour. Organs from pigs can be harvested on a schedule, and surgeries planned for exact times during the day. A patient that comes in with kidney failure could get a kidney the next dayeliminating the need for large dialysis centers. Hospital ICU beds will no longer be taken up by patients waiting for a heart transplant.

With the ability to engineer a donor pig, pig organs can go beyond simply matching a human organ. For example, Cooper says, you could engineer organs to protect themselves from the immune system in the long term, perhaps by making their own localized dose of immunosuppressant drugs.

'Big Pork' Wants to Get In on Organ Transplants

At last Fridays summit, Church speculated about making organs resistant to tumors or viruses. When an audience member asked about the possibility of genetically enhancing pig organs to work as well as Michael Phelpss lungs or Usain Bolts heart, he responded, We not only can but should enhance pig organs, even if were opposed to enhancing human beings ... They will go through safety and efficacy testing, but part of efficacy is making sure theyre robust and maybe they have to be as robust as Michael Phelps in order to do the job.

Xenotransplantation will raise ethical questions, of course, and genetically enhancing pigs might come uncomfortably close to the plot of Okja. These enhancements are hard to fathom for now because scientist dont yet know what genes to alter if they wanted to make, for example, super lungs. Its taken decades of research to pinpoint the handful of genes that could make pig organs simply compatible with humans. But the technical ability to make any editsor even dozens of edits at oncewith CRISPR is already here.

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Genetically Engineering Pigs to Grow Organs for People - The Atlantic

How ‘human bees’, biotechnologists and Gates Foundation are rescuing the African cassava staple – Genetic Literacy Project

In the developed world, most people eat the root vegetable cassava only in tapioca pudding or bubble tea. But in sub-Saharan Africa, its the primary staple for half a billion people and is the continents most popular crop.It has gained prominence due to its tolerance to extreme weather conditions, making it a reliable food security crop.

But its future is in danger. It is threatened by twoviruses: brown streak (CBSD) and mosaic (CMD). Its estimated that $1.25 billion worth of cassava plants succumb to theviruses every year. It is the

African cassava mosaic virus

dream of farmers, scientists, and affected African governments to developa variety that is resistant to both of these killer diseases.

Previous efforts through conventional breeding have resulted in several tolerant varieties. These conventionally bred varieties, however, succumb to the virus after a short time and do not stay long enough in the ground to take subsistence farmers through dry spells. Farmers tend to prefer varieties with tubers that remain in the ground for long periods of time without rotting.

Geneticsolution?

In has stepped the Bill & Melinda Gates Foundation. The Foundation has releaseda $10.46 million grant through the Donald Danforth Plant Science Center for developing virus resistant cassava varieties. The project addressed varieties that would be grown inEast Africa (virus resistance) and West Africa (virus resistance & nutrients enhancement).

According to the Danforth Center, VIRCA Plusa collaborative project involving American and African institutions will use the grant to further joint efforts towards delivering disease-resistant cassava varieties.VIRCA Plus builds on the success of two predecessor projects: VIRCA project and BioCassava Plus project. The VIRCA project successfully developed varieties with strong and stable CBSD resistance in Kenya and Uganda. The two projects applied genetic engineering in developing these particular lines.

This is the second major project financed by the Gates Foundation to attack these deadly viruses. Another variety for Nigeria with elevated levels of iron and zinc, and resistant to viruses is also under research. But tests so far show the African BioCassava Plus project has developed cassava plants that accumulate greater than 10 times more iron and zinc than comparable varieties in Nigeria. In January, Gates himself outlinedthis project:

In the developed world, most people eat the root vegetable cassava only in tapioca pudding or bubble tea. But in Africa, its the primary staple for half a billion people and the continents most popular crop. Thats why Im super excited that scientists are using the most advanced hybridization techniques for the benefit of cassava farmers and those who depend on the crop. With the support of UK Department for International Development and our foundation, scientists are making great progress developing hybrids that are resistant to the major virus that cuts down on cassava yields (cassava mosaic virus). At the same time, these scientists are breeding strains that have more nutrients than the strains under cultivation today.

The joint efforts will not only involve partner institutions but will bring together conventional plant breeders and biotechnologists. One of the VIRCA Plus product development pathways is crossing the transgene resistant to brown streak virus with non transgenic varieties resistant to the mosaic virus in order to have a product resistant to both viruses. This decision meant VIRCA plus would need to employ the services of so-called human pollinators.

Human bees: Applying both conventional and genetic engineering breeding techniques

Some of the new breeding techniques that are being used on the transgenic crops are revolutionary. If breeding is the art and science of developing a new variety, thena special category of those involved in breeding, the pollinators or the human bees, fit in the art category.Unlike bees that visit flowers for nectar to feed the brood and carry along pollen that accidentally fertilize another flower, human pollinators are intentional. They must know the time of the day the female flower opens up to receive pollen. This time must not be missed as the gametes would eventually become nonviable. Pollinators ensure the male and the female flower about the same time to guarantee success. This, depending on the varieties under crossing, may require synchronized planting of the parental lines. Pollinators also keep records of where the pollen is coming from in order to maintain the integrity of the crosses.

Transgenic cassava is pollinated with a traditional variety.

Conventional breeding is more challenging for cassava pollinators because once they miss the chance of pollinating the flowers, either because the plants have flowered at different times or not flowered at all, they would have to wait for another flowering cycle or replant. Worse still, with one of the parents being transgenic, the research team might have to reapply again to government authorities for requisite permissions. This is costly in terms of time, deferred farmers expectations for solution, and additional financial burden on funding partners. A pollinator bears a big portion of these expectations and the pressure of making no mistakes.

14 years pollinating cassava

Solomon Agenoga is one of these human bees whose dream of a cassava variety resistant to cassava brown streak virus could be realized. He has been actively involved in the conventional breeding attempts that delivered different varieties to fight cassava brown streak disease at Ugandas national cassava program based in Namulonge.

Solomon grew up seeing a cassava crop grow up healthy without any major problems. He has eaten cassava for over 40 years. He recalls the emergence of CMD that threatened to wipe out cassava in his village. Scientists eventually developed CMD-resistant varieties but before longCBSD struck and up to today no resistant variety has beenreleased to farmers.

Solomon recalls, when I was young, It never crossed my mind that one day I would get directly involved in improving my main staple for yield, pests and diseases. For 14 years, Solomon has seen five different varieties released to farmers: NASE 14, NASE 16, NASE 19, NARO CAS1, NARO CAS2. To hisdisappointment, none of these varieties was resistant to bothviruses. All of themare tolerant but not resistant.His full satisfaction willonly come, he says, when a variety resistant to both mosaic virus and brown streak virus is developed. Following several conventional breeding attempts, only incorporating genetic engineering and conventional breeding approaches together could bring Solomons dream of a brown streak virus resistant variety into reality.

When the VIRCA project started in Solomons institution, there seemed to be irreconcilable differences between conventional breeding and genetic engineering. In fact, this technology that could do without flowers had a potential of rendering this experienced pollinator jobless. Solomon recalls, as a pollinator, in his mind, he could not imagine playing a role in this initiative that could help him save his childhood crop.

VIRCA Plus made a decision to incorporate conventional breeding techniques in its product development pathways. This decision elevated Solomon from being another pollinator to the key person who the project relied upon to deliver seeds of transgenic and non transgenic crosses. He rubbedshoulders with these modern scientists who transfer genes rather thanpollen. He left his home in Uganda for the first time to pollinate cassava across the border. It then occurred to him that he was playing an important role in ensuring that millions of African farmers get to have a variety that is resistant to the deadly CBSD.

Solomon has donehis best in leading a team of pollinators who, for the first time in their lives, make crosses involving a genetically modified parent working with a hybrid of con
ventional breeders and biotechnologists. According to Solomon, other than the additional regulatory procedures associated with transgenic crops, the steps involved were basically similar to the usual conventional breeding practices.

The Gates grant will not only unite scientists in rescuing millions of farm families from hunger due to crop failures, but could grant Solomon an opportunity to have a hand in saving his childhood crop from the viruses.

Isaac Ongu is an agriculturist, science writer and an advocate for science based interventions in solving agricultural challenges in Africa. Follow Isaac on twitter@onguisaac

For more background on the Genetic Literacy Project, read GLP on Wikipedia.

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How 'human bees', biotechnologists and Gates Foundation are rescuing the African cassava staple - Genetic Literacy Project

Trump wants to cut billions from the NIH. This is what we’ll miss out on if he does. – Vox

The Trump administration wants to cut billions of dollars from funding biomedical research at the National Institutes of Health. Its unclear if it will be able to, considering how funding for cancer, diabetes, and other disease research tends to have bipartisan consensus, and many prominent Republicans in Congress are opposing the cuts.

The White House has suggested the size of the agencys budget roughly $32 billion in 2016 is the problem. Only in Washington do you literally judge the success of something by how much money you throw at the problem, not actually whether its solving the problem or coming up with anything, Sean Spicer, President Trumps press secretary, said in March, defending the proposed cuts of $6 billion to the 2018 budget. (Theres also talk of slashing $1.2 billion from NIH research grants this year.)

Bu we can judge the success of the NIH by measures other than the amount of money being spent at it. Because for decades scientists have been studying a version of this question: What does public spending on biomedical research actually buy us?

A lot, it turns out. So lets run through some of the evidence. (Many thanks to Matthew Hourihan, R&D budget analysis director at the American Association for the Advancement of Science, who helped compile this research.)

The NIH isnt just a research campus in Bethesda, Maryland. Its the major funder of biomedical research in universities across the country. Around 80 percent of the NIH budget goes to these grants.

Turns out giving money to some of the nations smartest people to answer tough problems in medicine and biology generates some good products and ideas, and stimulates the economy.

1) New patents for drugs, medical devices, and other technologies

In March, Science published a study looking at the impact of NIH grants over a 27-year period.

The main finding: 8.4 percent of all NIH grants go on to generate patents for new drugs, medical devices, or other medicine-related technologies.

The authors of the Science paper had previously figured out that a $10 million boost in NIH funding leads to a net increase of 2.3 patents. They estimate, roughly, that each patent is worth around $11.2 million in 2010 dollars. A back-of-the-envelope calculation indicate that a $10 million dollar increase in NIH funding would yield $34.7 million in firm market value, they reported in a recent NBER paper. Not a bad bet.

One single invention can make for a huge advancement in biotechnology. The NIHs most cited patent since 2000 was for a tiny and incredibly important invention: microscopic valves that allow scientists to create circuits of fluid that work kind of like computer chips. According to Battelle, a private research firm, the NIH spent about $500,000 developing these valves. Since then, biotech companies have seized on the invention, creating even smaller versions of chemistry labs that can diagnose diseases like HIV and Ebola (these are sometimes referred to as lab on a chip devices). Its an invention that has spurred a whole new biotech industry and also helps save lives.

2) Those patents then inspire new patents

The Science papers secondary finding is perhaps just as important: Grant money also has a carryover effect into the private sector. Around 30 percent of all scientific papers generated by NIH grants are cited by successful patent applications from private firms.

Which means even if a grant isnt directly generating a patent, it has a good chance of aiding the thinking behind the discovery of another.

And theres some research that suggests government funding is better at kickstarting this virtuous cycle than private sector funding: NIH-funded patents are cited by future patents at double the rate of those developed by the private sectors, a 2014 Nature Biotechnology paper found.

Furthermore, the Science analysis finds that both basic and applied research are just as likely to be cited by future patents. (Basic research seeks to understand the nuts and bolts of biological processes. It answers questions like: How does the retina work? Applied research seeks to generate ideas or products that can be put to use: Can this medical device improve retina functioning?)

That theres parity between basic and applied research means that generating knowledge for the sake of it is just as valuable as designing direct solutions to problems.

Between 2003 and 2013, every patent generated by an NIH grant was cited, on average, by five future patents, according to Battelle.

Again, this means research dollars spent by the NIH inspire other research institutions and industries to spend money on research and development, generating ideas to change and save lives.

Overall, Battelle calculated that every $100 million spent on NIH research leads to an additional $105.9 million in future research and development in both the public and private sectors.

3) Those patents form the basis of new biotech firms

NIH money lands in research institutions all across the country. In 2014, a report in the journal Research Policy asked: What happens to local economies that see that influx of NIH funds?

Quite simply, where NIH funds flow, new biotechnology firms follow. A $1 million increase in the average amount of federal R&D funding associates with an increase of 558 percent in the number of local biotechnology firm births a few years later, the authors reported.

In 2013, the Science Coalition, a science advocacy nonprofit, published a report on 100 companies that got their start because of federal research funds. Most of them are pretty small employing a few or a few dozen people. They produce things like custom strands of DNA for use in genetic engineering, or compounds to make pharmaceuticals more water-soluble.

NIH-funded research has also spurred gigantic new industries. Consider the human genome project, to which genetic testing companies like 23andMe, and the entire genomics industry, owe their existence. The human genome project cost around $3.8 billion. Its estimated to have generated $796 billion in economic impact.

4) All this research gives us drugs that save lives

In 2011, the New England Journal of Medicine published a report that found public sector funding is more effective at generating new, important drugs than spending in the private sector.

Looking at decades of Food and Drug Administration drug approvals, the researchers found virtually all the important, innovative vaccines that have been introduced during the past 25 years have been created by PSRIs [public sector research institutions].

Their definition of PSRI includes all universities, research hospitals, nonprofit research institutes, and federal laboratories in the United States, so its not just spending by the NIH.

The FDA prioritizes drugs in the approval pipeline based on potential impact. Drugs that began at public research institutions were more than two times more likely to be flagged as high-priority than those that began in the private sector. The analysis found that 46.2 percent of new-drug applications from PSRIs received priority reviews, as compared with 20.0 percent of applications that were based purely on private-sector research, an increase by a factor of 2.3.

And the public sector is particularly good at creating drugs to cure deadly diseases. Of the 153 approvals of drugs that began at public research institutions, 40 were for the treatment of cancer and 36 tackled infectious diseases, the report found.

Specifically, research also finds that spending at the NIH does spur new drug discoveries. A 2012 study found that a 10 percent increase in the funding for a particular disease yields about a 4.5 percent increase in novel drugs entering human clinical testing (phase I trials), after a lag of up to 12 years.

Heres a famous example: In the 1950s and 60s, NIH researcher Julius Axelrods work showed how neurotransmitters function in the brai
n, leading to a Nobel Prize. But more importantly, his ideas led to the drugs we now use to treat depression. All the major SSRIs [selective serotonin reuptake inhibitors] were discovered by pharmaceutical companies with the use of Axelrods basic discoveries, NEJM reports.

The White House believes spending at the NIH has gotten out of hand.

About 30 percent of the grant money that goes out is used for indirect expenses, which, as you know, means that that money goes for something other than the research thats being done, Health and Human Services Secretary Tom Price told reporters, justifying the proposed 18 percent cut to NIH funding for the 2018 budget.

Its true that the NIH also pays for overhead costs like electricity bills and lab equipment. And yes, there are legitimate concerns that these costs can spiral. Stat News has the best explanation of this argument here. In the piece, reporter Meghana Keshavan explains:

Critics suggest that the system gives universities an incentive to bump up their overhead costs, since the reimbursement rates are negotiated based on their previous years spending. So if a school builds a fancy new lab one year, it can claim the need for a higher reimbursement rate the next.

Should universities like Harvard, which have billion-dollar endowments, get federally funded money to keep the lights on?

The Government Accountability Office which analyzes government policies for inefficiencies flagged the potential for sprawling overhead costs at the NIH in a 2016 report, urging the institute to establish programs to better investigate potential fraud and abuse.

So theres some legitimate debate to be had about funding at the NIH. But its also clear that the severe, sudden cuts proposed by the Trump administration will have the immediate effect of stifling scientific progress.

For one, science need stable funding. Projects are funded on a multi-year basis. Yet Congress can change the NIH budget every year if it wants. The instability makes it harder to fund multi-year projects.

And already, competition for NIH grants is intense. Funding has basically plateaued over the past decade, while at the same time the cost of research keeps increasing and an ever-growing pool of PhDs is competing for a relatively smaller pile of grant money.

Consider this: In 2000, more than 30 percent of NIH grant applications got approved. Today, its closer to 17 percent. Its not crazy math: The less money there is to go around, the fewer projects get funded. If the Trump cuts go through, itll likely mean hundreds fewer research grants.

Congress will decide whether to include the immediate proposed cuts to this years budget by the end of April. But enthusiasm so far seems mixed.

When reporters asked Sen. Roy Blunt, a Republican who serves on the Senates Appropriations Committee, if the 2017 cuts could happen, he replied, No. No. Other Republicans are similarly skeptical, according to the New York Times. Rep. Kevin Yoder, a Republican from Kansas, has said, I will fight to ensure that these proposed cuts to medical research funding never make it into law.

But if Congress does vote to cut NIH funding which could very well happen who knows what ideas and breakthroughs well miss out on?

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Trump wants to cut billions from the NIH. This is what we'll miss out on if he does. - Vox

The Right to Agricultural Technology – Project Syndicate

STANFORD In the 1960s, when biologist Paul Ehrlich was predicting mass starvation due to rapid population growth, plant breeder Norman Borlaug was developing the new crops and approaches to agriculture that would become mainstays of the Green Revolution. Those advances, along with other innovations in agricultural technology, are credited with preventing more than a billion deaths from starvation and improving the nutrition of the billions more people alive today. Yet some seem eager to roll back these gains.

Beyond saving lives, the Green Revolution saved the environment from massive despoliation. According to a Stanford University study, since 1961, modern agricultural technology has reduced greenhouse-gas emissions significantly, even as it has led to increases in net crop yields. It has also spared the equivalent of three Amazon rainforests or double the area of the 48 contiguous US states from having to be cleared of trees and plowed up for farmland. Genetically engineered crops, for their part, have reduced the use of environmentally damaging pesticides by 581 million kilograms (1.28 billion pounds), or 18.5%, cumulatively since 1996.

Surprisingly, many environmentalists are more likely to condemn these developments than they are to embrace them, promoting instead a return to inefficient, low-yield approaches. Included in the so-called agroecology that they advocate is primitive peasant agriculture, which, by lowering the yields and resilience of crops, undermines food security and leads to higher rates of starvation and malnutrition.

Promoting that lunacy, the United Nations Human Rights Council recently published a report by Special Rapporteur on the Right to Food Hilal Elver that called for a global agroecology regime, including a new global treaty to regulate and reduce the use of pesticides and genetic engineering, which it labeled human-rights violations.

The UNHRC a body that includes such stalwart defenders of human rights as China, Cuba, Qatar, Saudi Arabia, and Venezuela usually satisfies itself by bashing Israel. But in 2000, at the Cuban governments urging, it created the post of special rapporteur on the right to food. Befitting the UNHRCs absurd composition, the first person to fill the position, the Swiss sociologist Jean Ziegler, was the co-founder and a recipient of the Muammar al-Qaddafi International Human Rights Prize.

For her part, Elver has, according to UN Watch, cited works that claim the September 11, 2001, terrorist attacks were orchestrated by the United States government to justify its war on Muslims. Elvers position on food reflects the same paranoid mindset. She opposes industrial food production and trade liberalization, and frequently collaborates with Greenpeace and other radical environmentalists.

Much of Elvers new UNHRC report parrots the delusional musings of organic-industry-funded nongovernmental organizations. It blames agricultural innovations like pesticides for destabilizing the ecosystem and claims that they are unnecessary to increase crop yields.

This all might be dismissed as simply more misguided UN activism. But it is just one element of a broader and more consequential effort by global NGOs, together with allies in the European Union, to advance an agroecology model, in which critical farm inputs, including pesticides and genetically engineered crop plants, are prohibited. That agenda is now being promoted through a vast network of UN agencies and programs, as well as international treaties and agreements, such as the Convention on Biological Diversity, the Codex Alimentarius Commission, and the International Agency on Research on Cancer.

The potential damage of this effort is difficult to overstate. The UNs Food and Agriculture Organization (which hasnt yet completely succumbed to radical activists) estimates that, without pesticides, farmers would lose up to 80% of their harvests to insects, disease, and weeds. (Consider, for example, the impact of the fall armyworm, which, in the last 18 months alone, has devastated maize crops across much of Sub-Saharan Africa.) Developing countries are particularly vulnerable to radical regulatory regimes, because foreign aid is often contingent on compliance with them, though they can also reshape agriculture in the developed world, not least in the EU.

Millions of smallholder farmers in the developing world need crop protection. When they lack access to herbicides, for example, they must weed their plots by hand. This is literally backbreaking labor: to weed a one-hectare plot, farmers usually women and children have to walk ten kilometers (6.2 miles) in a stooped position. Over time, this produces painful and permanent spinal injuries. Indeed, that is why the state of California outlawed hand-weeding by agricultural workers in 2004, though an exception was made for organic farms, precisely because they refuse to use herbicides.

Depriving developing countries of more efficient and sustainable approaches to agriculture relegates them to poverty and denies them food security. That is the real human-rights violation.

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The Right to Agricultural Technology - Project Syndicate

Four Vaccine Types That Could Stop the Coronavirus, Explained – Sixth Tone

With the COVID-19 pandemic posing an ever greater global threat, scientists are ramping up efforts to develop a safe and effective vaccine against the coronavirus.

There are many ways to make a vaccine, but the general idea is the same. When the immune system is exposed to a previously unknown pathogen, it usually takes a few days to train and deploy its soldiers against the invasive germ. Vaccines act like a practice drill for the immune system by exposing it to a weak, broken, or fake virus so that when an actual infection happens, the immune systems already-trained defenders are ready for the fight.

According to the World Health Organization, over 40 types of COVID-19 vaccines are being developed worldwide. Most fall into one of four categories: attenuated, subunit, recombinant vector, and nucleic acid-based.

Attenuated: Live but Frail

Attenuated vaccines are live viruses that have been weakened in a laboratory. Scientists might grow the virus but not give it enough nutrients, for example. As a result, the virus, despite being viable, is too weak to cause disease. Many common vaccines, including the MMR (measles, mumps, rubella) and smallpox vaccines, are made with this technique. Attenuated vaccines can closely mimic real infections and are thus capable of inducing strong and long-lasting immunity in humans. On the flip side, however, because they involve a live virus, they can potentially pose health risks to people with weaker immune systems.

U.S. biotech company Codagenix is collaborating with the Serum Institute of India to develop an attenuated vaccine against COVID-19, according to the WHO.

Subunit: The Bait

Subunit vaccines involve recipients being inoculated with only the part of the virus that elicits an immune response. This viral component is called an antigen, and its what the immune system uses to identify an invader. The immune system has an excellent memory of which antigens it has encountered. So when it detects a potentially harmful virus with a familiar antigen, it knows just how to respond. In the case of the COVID-19 virus, its antigen is a spiky protein on the cell surface.

British pharmaceutical firm GlaxoSmithKline is reportedly collaborating with Clover Biopharmaceuticals, a company based in the southwestern Chinese city of Chengdu, to develop a subunit vaccine based on the aforementioned spiky proteins.

Recombinant Vector: The Sheep in Wolfs Clothing

Recombinant vector vaccines are made through genetic engineering. Similar to subunit vaccines, recombinant vector vaccines aim to expose the immune system to viral antigens. But instead of injecting the antigens directly, scientists take a snippet of the virus genetic code for the antigen and combine it with that of a harmless virus. The engineered virus can then express the antigen needed to generate an immune response without causing an infection.

Chinas first experimental vaccine approved for human trials uses this technique, with the team of researchers from the Academy of Military Medical Sciences inoculating their first volunteers last week. The study is aiming to recruit 108 healthy volunteers aged 18 to 60, and to run from March 16 to Dec. 31.

Nucleic Acid-Based: The Instruction Manual

Nucleic acid-based vaccines are the newest vaccine category. They work by injecting parts of the virus genetic material, such as DNA or RNA segments, directly into the human body. For these vaccines, scientists tend to favor antigen genes, which are essentially encyclopedias containing all the information needed to recreate antigens once the genes theyre inside human cells.

This technique has only been explored for the last 20 years or so, and thus no DNA or RNA vaccines have yet been approved for human use. But nucleic acid-based vaccines are time savers, as researchers dont have to grow viral components on a massive scale in the lab. Instead, this process takes place directly within human hosts.

Cutting production time is crucial for vaccine development during a pandemic. For this reason, dozens of pharmaceutical companies are eyeing a nucleic acid-based COVID-19 vaccine.

The first U.S.-developed experimental COVID-19 vaccine given to humans is an RNA vaccine made by the Massachusetts-based biotech company Moderna and the National Institutes of Health. In China, meanwhile, Fudan University is collaborating with Shanghai Jiao Tong University and RNACure Biopharma, a local biotech firm, to develop an RNA vaccine, though human trials are still pending.

Vaccine development is a time-consuming process. Most of the projects that have been announced are still in the early stages, such as testing on animal models. Despite the global effort, only two COVID-19 vaccines have entered early-stage human trials.

Editor: David Paulk.

(Header image:500px/VCG)

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Four Vaccine Types That Could Stop the Coronavirus, Explained - Sixth Tone

Why The Future Does Need Us – Forbes

Guest Post by Michael A. Alvarez

In April 2000, Bill Joy (co-founder of Sun Microsystems) published an article in Wired magazine entitled Why the Future Doesnt Need Us. In it, he argues that "Our most powerful 21st-century technologiesrobotics, genetic engineering, and nanotechare threatening to make humans an endangered species." At the time, his thesis and accompanying forecast were alarming, coming from such a credible source.

"The Terminator" movie poster

The underlying message in his article was clear: the rate and direction of technological innovation over time will lead to a world where humans are unnecessary and machines will be able to do without us.Instead of interacting with them in the way we historically haveprogramming them to execute the tasks we instruct them to performwe will cross a threshold where we unwittingly relinquish the responsibility of making important decisions that we as a society need to make. They will do our thinking for us.

We are now twenty years since the publication of his article, and we have indeed experienced tremendous technological advancement. It is well-deserved that we marvel, celebrate, and appreciate how these advancements are adding or contributing to our experience of life as human beings. With artificial intelligence and machine learning in particular, however, one could argue it is vital that we take a moment to pause and look at what is happening through the lenses of Joys article.

"Our most powerful 21st-century technologiesrobotics, genetic engineering, and nanotechare threatening to make humans an endangered species."

Can We Prevent a Future with Machines as Masters?

Movie scene from "2001: A Space Odyssey"

The overthrow of the human species by machines is by no means inevitable. It will not happen overnight. There would necessarily be stages that we as a species would be witness to.

Initially, there would be a state of reasonable reliance on machines to augment our thinking, in advance of relegating it excessively and detrimentally to them.Conceivably upon encountering a situation which goes too far, potentially threatening our existence or relevance, we could intervene.

Among the most salient considerations:

There is no doubt that innovation is part of our nature as human beings. Invariably we should, must, and will continue to build and ascend into the acquisition of new capabilities. For our society and the well-being of our species, this has shown that it can be a very good thing. We have reached a challenging point, however, and it is vital that we start thinking considerately, and perhaps differently, about our approach to innovation.

The need to take other factors into account when selecting where to focus our innovative capacities is increasingly urgent.

What Dimensions Should We Examine?

Economic return to investors and shareholders is, of course, a significant priority when launching into a new entrepreneurial endeavor or corporate innovation initiative. The need to take other factors into account when selecting where to focus our innovative capacities is increasingly urgent.

Some of the most critical dimensions include:

The intent here is not to delve into each of these dimensions and propose a means for analyzing investment opportunities against each. The measurement of the above factors is complex and not straightforward.

New Yorker Magazine/Tom Toro. November 26, 2012

The aim, rather, is to look more broadly than at each dimension and to look at them collectively.It is arguably now more important than ever that we approach innovation such that we are clear and intentional about what we are actually advancing.We do this so that we can craft and escort ourselves into a future that we desire; presumably, one where human beings will remain relevant.

New Categories of Jobs Arise

To take an isolated example, when it comes to security and industrial surveillance relative to job displacement impact, we know that the advent of drones is going to lead to a reduction in the number of humans needed to perform these functions. At the same time, it is also giving rise to the need for drone operators, mechanics, and interpreters. Some jobs will be eliminated, and others representing new opportunities are emerging.

When it comes to security and industrial surveillance relative to job displacement impact, we know ... [+] that the advent of drones is going to lead to a reduction in the number of humans needed to perform these functions.

The U.S. Bureau of Labor Statistics lists and outlines jobs across a myriad of categories. Over time, more job categories are typically added to this list than fall off of it.In other words, we can plausibly conclude that the future of work, and the relevance of human beings within the workforce, is something over which we can and could potentially still retain a degree of influence and control.

To Succeed, We Need to Change How We Innovate

To succeed in the future, we need to change how we innovate now.

What is paramount at this point as a species is to recognize to a far greater extent our interconnectedness with one another, and with the technology and machines we are advancing.We have a great (but narrowing) opportunity to be more deliberate in our approach to innovation, along with an imperative to take additional human and environmental impact factors into account in evaluating the entrepreneurial endeavors we choose to support and pursue. From this vantage point, the future does need us, perhaps in ways we have not yet considered.

Michael A. Alvarez

Michael A. Alvarez is a leader in entrepreneurship, innovation, human development, and workforce preparation. He has founded and directed centers focused on these aspects of our economy at Stanford, UCSF, and Columbia.

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Why Bill Gates thinks gene editing and artificial intelligence could save the world – GeekWire

Microsoft co-founder Bill Gates makes a point during a Q&A with Margaret Hamburg, board chair for the American Association for the Advancement of Science. (GeekWire Photo / Alan Boyle)

Microsoft co-founder Bill Gates has been working to improve the state of global health through his nonprofit foundation for 20 years, and today he told the nations premier scientific gathering that advances in artificial intelligence and gene editing could accelerate those improvements exponentially in the years ahead.

We have an opportunity with the advance of tools like artificial intelligence and gene-based editing technologies to build this new generation of health solutions so that they are available to everyone on the planet. And Im very excited about this, Gates said in Seattle during a keynote address at the annual meeting of the American Association for the Advancement of Science.

Such tools promise to have a dramatic impact on several of the biggest challenges on the agenda for the Bill & Melinda Gates Foundation, created by the tech guru and his wife in 2000.

When it comes to fighting malaria and other mosquito-borne diseases, for example, CRISPR-Cas9 and other gene-editing tools are being used to change the insects genome to ensure that they cant pass along the parasites that cause those diseases. The Gates Foundation is investing tens of millions of dollars in technologies to spread those genomic changes rapidly through mosquito populations.

Millions more are being spent to find new ways fighting sickle-cell disease and HIV in humans. Gates said techniques now in development could leapfrog beyond the current state of the art for immunological treatments, which require the costly extraction of cells for genetic engineering, followed by the re-infusion of those modified cells in hopes that theyll take hold.

For sickle-cell disease, the vision is to have in-vivo gene editing techniques, that you just do a single injection using vectors that target and edit these blood-forming cells which are down in the bone marrow, with very high efficiency and very few off-target edits, Gates said. A similar in-vivo therapy could provide a functional cure for HIV patients, he said..

The rapid rise of artificial intelligence gives Gates further cause for hope. He noted that that the computational power available for AI applications has been doubling every three and a half months on average, dramatically improving on the two-year doubling rate for chip density thats described by Moores Law.

One project is using AI to look for links between maternal nutrition and infant birth weight. Other projects focus on measuring the balance of different types of microbes in the human gut, using high-throughput gene sequencing. The gut microbiome is thought to play a role in health issues ranging from digestive problems to autoimmune diseases to neurological conditions.

This is an area that needed these sequencing tools and the high-scale data processing, including AI, to be able to find the patterns, Gates said. Theres just too much going on there if you had to do it, say, with paper and pencil to understand the 100 trillion organisms and the large amount of genetic material there. This is a fantastic application for the latest AI technology.

Similarly, organs on a chip could accelerate the pace of biomedical research without putting human experimental subjects at risk.

In simple terms, the technology allows in-vitro modeling of human organs in a way that mimics how they work in the human body, Gates said. Theres some degree of simplification. Most of these systems are single-organ systems. They dont reproduce everything, but some of the key elements we do see there, including some of the disease states for example, with the intestine, the liver, the kidney. It lets us understand drug kinetics and drug activity.

The Gates Foundation has backed a number of organ-on-a-chip projects over the years, including one experiment thats using lymph-node organoids to evaluate the safety and efficacy of vaccines. At least one organ-on-a-chip venture based in the Seattle area, Nortis, has gone commercial thanks in part to Gates support.

High-tech health research tends to come at a high cost, but Gates argues that these technologies will eventually drive down the cost of biomedical innovation.

He also argues that funding from governments and nonprofits will have to play a role in the worlds poorer countries, where those who need advanced medical technologies essentially have no voice in the marketplace.

If the solution of the rich country doesnt scale down then theres this awful thing where it might never happen, Gates said during a Q&A with Margaret Hamburg, who chairs the AAAS board of directors.

But if the acceleration of medical technologies does manage to happen around the world, Gates insists that could have repercussions on the worlds other great challenges, including the growing inequality between rich and poor.

Disease is not only a symptom of inequality, he said, but its a huge cause.

Other tidbits from Gates talk:

Read Gates prepared remarks in a posting to his Gates Notes blog, or watch the video on AAAS YouTube channel.

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Why Bill Gates thinks gene editing and artificial intelligence could save the world - GeekWire

Global Therapeutic Proteins Market Report 2020: Market was Valued at $93.14 Billion in 2018 and is Expected to Grow to $172.87 Billion through 2022 -…

The "Therapeutic Proteins Global Market Report 2020" report has been added to ResearchAndMarkets.com's offering.

The global therapeutic proteins market was valued at about $93.14 billion in 2018 and is expected to grow to $172.87 billion at a CAGR of 16.7% through 2022.

The therapeutic proteins market consists of sales of therapeutic proteins. Therapeutic proteins provide important therapies for diseases such as diabetes, cancer, infectious diseases, hemophilia, and anemia.

Advance technologies for protein-based drug development drives the therapeutic proteins market. Therapeutic proteins cannot be synthesized chemically, they need to be produced by genetic engineering and recombinant DNA technology in living cells or organisms.

Protein-engineering platform technologies such as glycoengineering, pegylation, Fc-fusion, albumin fusion, albumin drug conjugation help to increase the production yield, product purity, circulating half-life, targeting, and functionality of therapeutic protein drugs. Belimumab, ipilimumab, taliglucerase alfa, albiglutide, coagulation factor IX recombinant human are some therapeutic protein drugs developed using protein engineering technologies approved by FDA in the past five years.

Increasing biosimilar drugs in global market decline the growth of the therapeutic proteins market. Patent expiry of therapeutic proteins such as monoclonal antibodies give space for entry of biosimilar. In EU, AbbVie evidenced patent expiration of Humira (adalimumab) in 2018, five biosimilar of Humira from Mylan, Amgen, Sandoz, Samsung Bioepis received drug approvals from European commission to enter the EU market. These cost-effective treatments similar to original biologics decline the revenue and sales of therapeutic proteins.

Monoclonal antibody drug approvals are increasing in the protein therapeutic segment. Chronic diseases such as cancer, immunological disorders are well treated with monoclonal antibodies. Monoclonal antibodies are dominant and well-established product class in the protein therapeutic segment with more safety and immunogenicity than antibodies.

Cell-based expression systems such as Chinese hamster ovary (CHO) mammalian cell expression system with latest technologies increased the productivity of monoclonal antibodies by overcoming the problems associated with earlier antibody drugs. In last five years, FDA approved 213 drugs, among them 44 are monoclonal antibodies. In 2018, twelve monoclonal antibodies were approved by FDA for the treatment of cancer and immunological disorders.

In the United States, therapeutic protein drug manufacturers file therapeutic biologics application (BLA) to FDA for the product approvals. The drug approved through BLA should be proved as safe, pure and potent. FDA consolidated review of most therapeutic proteins in Center for Drug Evaluation and Research (CDER). In European Union, biologics are regulated by Committee for Medicinal Products for Human Use (CHMP) for marketing authorization.

In June 2018, Sanofi, a therapeutic solutions provider acquired Ablynx for $4.8 billion. With this acquisition, Sanofi strengthen its R&D strategy with the addition of Ablynx's nanobody technology platform. Sanofi will also focus on technologies addressing multiple disease targets with single multi-specific molecules. Ablynx, a biopharmaceutical company based in Ghent, Belgium, that develops proprietary therapeutic proteins based on single-domain antibody fragments.

Major players in the market are Abbott Laboratories, Amgen Inc., Baxter International Inc., Eli Lilly and Company, F. Hoffmann-La Roche Ltd

Other Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/p2gpo3

View source version on businesswire.com: https://www.businesswire.com/news/home/20191223005228/en/

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Global Therapeutic Proteins Market Report 2020: Market was Valued at $93.14 Billion in 2018 and is Expected to Grow to $172.87 Billion through 2022 -...

Building a ‘doomsday vault’ to save the kangaroo and koala from extinction – CNET

The road into Batlow is littered with the dead.

In the smoky, gray haze of the morning, it's hard to make out exactly what Matt Roberts' camera is capturing. Roberts, a photojournalist with the Australian Broadcasting Corporation, keeps his lens focused on the road as he rolls into the fire-ravaged town 55 miles west of Canberra, Australia's capital. At the asphalt's edge, blackened livestock carcasses lie motionless.

The grim scene, widely shared on social media, is emblematic of the impact the 2019-20 bushfire season has had on Australia's animal life. Some estimates suggest "many, many billions" of animals have been killed, populations of endemic insects could be crippled and, as ash washes into riverways, marine life will be severely impacted. The scale of the bushfires is so massive, scientists are unlikely to know the impact on wildlife for many years.

But even before bushfires roared across the country, Australia's unique native animals were in a dire fight for survival. Habitat destruction, invasive species, hunting and climate change have conspired against them. Populations of native fauna are plummeting or disappearing altogether, leaving Australia with an unenviable record: It has the highest rate of mammal extinctions in the world.

A large share of Australia's extinctions have involved marsupials -- the class of mammals that includes the nation's iconic kangaroos, wallabies, koalas and wombats. A century ago, the Tasmanian tiger still padded quietly through Australia's forests. The desert rat-kangaroo hopped across the clay pans of the outback, sheltering from the sun in dug-out nests.

Now they're gone.

Australia's 2019-20 bushfire season has been devastating for wildlife.

In a search for answers to the extinction crisis, researchers are turning to one lesser-known species, small enough to fit in the palm of your hand: the fat-tailed dunnart. The carnivorous mouse-like marsupial, no bigger than a golf ball and about as heavy as a toothbrush, has a tiny snout, dark, bulbous eyes and, unsurprisingly, a fat tail. It's Baby Yoda levels of adorable -- and it may be just as influential.

Mapping the dunnart's genome could help this little animal become the marsupial equivalent of the lab mouse -- a model organism scientists use to better understand biological processes, manipulate genes and test new approaches to treating disease. The ambitious project, driven by marsupial geneticist Andrew Pask and his team at the University of Melbourne over the last two years, will see scientists take advantage of incredible feats of genetic engineering, reprogramming cells at will.

It could even aid the creation of a frozen Noah's Ark of samples: a doomsday vault of marsupial cells, suspended in time, to preserve genetic diversity and help prevent further decline, bringing species back from the brink of extinction.

If that sounds far-fetched, it isn't. In fact, it's already happening.

Creating a reliable marsupial model organism is a long-held dream for Australian geneticists, stretching back to research pioneered by famed statistician Ronald Fisher in the mid-20th century. To understand why the model is so important, we need to look at the lab mouse, a staple of science laboratories for centuries.

"A lot of what we know about how genes work, and how genes work with each other, comes from the mouse," says Jenny Graves, a geneticist at La Trobe University in Victoria, Australia, who has worked with marsupials for five decades.

The mouse is an indispensable model organism that shares many genetic similarities with humans. It has been key in understanding basic human biology, testing new medicines and unraveling the mysteries of how our brains work. Mice form such a critical part of the scientific endeavor because they breed quickly, have large litters, and are cheap to house, feed and maintain.

The lab mouse has been indispensable in understanding physiology, biology and genetics.

In the 1970s, scientists developed a method to insert new genes into mice. After a decade of refinement, these genetically modified mice (known as "transgenic mice") provided novel ways to study how genes function. You could add a gene, turning its expression up to 11, or delete a gene entirely, shutting it off. Scientists had a powerful tool to discover which genes performed the critical work in reproduction, development and maturation.

The same capability does not exist for marsupials. "At the moment, we don't have any way of manipulating genes in a devil or a kangaroo or a possum," says Graves. Without this capability, it's difficult to answer more pointed questions about marsupial genes and how they compare with mammal genes, like those of mice and humans.

So far, two marsupial species -- the Tammar wallaby and the American opossum -- have been front and center of research efforts to create a reliable model organism, but they both pose problems. The wallaby breeds slowly, with only one baby every 18 months, and it requires vast swaths of land to maintain.

The short-tailed opossum might prove an even more complicated case. Pask, the marsupial geneticist, says the small South American marsupial is prone to eating its young, and breeding requires researchers to sift through hours of video footage, looking for who impregnated whom. Pask also makes a patriotic jab ("they're American so we don't like them") and says their differences from Australian marsupials make them less useful for the problems Australian species face.

But the dunnart boasts all the features that make the mouse such an attractive organism for study: It is small and easy to house, breeds well in captivity and has large litters.

"Our little guys are just like having a mouse basically, except they have a pouch," Pask says.

Pask (front) and Frankenberg inspect some of their dunnarts at the University of Melbourne.

A stern warning precedes my first meeting with Pask's colony of fat-tailed dunnarts.

"It smells like shit," he says. "They shit everywhere."

I quickly discover he's right. Upon entering the colony's dwellings on the third floor of the University of Melbourne's utilitarian BioSciences building, you're punched in the face by a musty, fecal smell.

Pask, a laid-back researcher whose face is almost permanently fixed with a smile, and one of his colleagues, researcher Stephen Frankenberg, appear unfazed by the odor. They've adapted to it. Inside the small room that houses the colony, storage-box-cages are stacked three shelves high. They're filled with upturned egg cartons and empty buckets, which work as makeshift nests for the critters to hide in.

Andrew Pask

Frankenberg reaches in without hesitation and plucks one from a cage -- nameless but numbered "29" -- and it hides in his enclosed fist before peeking out of the gap between his thumb and forefinger, snout pulsing. As I watch Frankenberg cradle it, the dunnart seems curious, and Pask warns me it's more than agile enough to manufacture a great escape.

In the wild, fat-tailed dunnarts are just as inquisitive and fleet-footed. Their range extends across most of southern and central Australia, and the most recent assessment of their population numbers shows they aren't suffering population declines in the same way many of Australia's bigger marsupial species are.

Move over, Baby Yoda.

As I watch 29 scamper up Frankenberg's arm, the physical similarities between it and a mouse are obvious. Pask explains that the dunnart's DNA is much more closely related to the Tasmanian devil, an endangered cat-sized carnivore native to Australia, than the mouse. But from a research perspective, Pask notes the similarities between mouse and dunnart run deep -- and that's why it's such an important critter.

"The dunnart is going to be our marsupial workhorse like the mouse is for placental mammals," Pask says.

For that to happen, Pask's team has to perfect an incredible feat of genetic engineering: They have to learn how to reprogram its cell
s.

To do so, they collect skin cells from the dunnart's ear or footpad and drop them in a flask where scientists can introduce new genes into the skin cell. The introduced genes are able to trick the adult cell, convincing it to become a "younger," specialized cell with almost unlimited potential.

The reprogrammed cells are known as "induced pluripotent stem cells," or iPS cells, and since Japanese scientists unraveled how to perform this incredible feat in 2006, they have proven to be indispensable for researchers because they can become any cell in the body.

"You can grow them in culture and put different sorts of differentiation factors on them and see if they can turn into nerve cells, muscle cells, brain cells, blood vessels," Pask explains. That means these special cells could even be programmed to become a sperm or an egg, in turn allowing embryos to be made.

Implanting the embryo in a surrogate mother could create a whole animal.

It took about 15 minutes to get this dunnart to sit still.

Although such a technological leap has been made in mice, it's still a long way from fruition for marsupials. At present, only the Tasmanian devil has had iPS cells created from skin, and no sperm or egg cells were produced.

Pask's team has been able to dupe the dunnart's cells into reverting to stem cells -- and they've even made some slight genetic tweaks in the lab. But that's just the first step.

He believes there are likely to be small differences between species, but if the methodology remains consistent and reproducible in other marsupials, scientists could begin to create iPS cells from Australia's array of unique fauna. They could even sample skin cells from wild marsupials and reprogram those.

Doing so would be indispensable in the creation of a biobank, where the cells would be frozen down to -196 degrees Celsius (-273F) and stored until they're needed. It would act as a safeguard -- a backup copy of genetic material that could, in some distant future, be used to bring species back from the edge of oblivion, helping repopulate them and restoring their genetic diversity.

Underneath San Diego Zoo's Beckman Center for Conservation Research lies the Frozen Zoo, a repository of test tubes containing the genetic material of over 10,000 species. Stacked in towers and chilled inside giant metal vats, the tubes contain the DNA of threatened species from around the world, suspended in time.

It's the largest wildlife biobank in the world.

"Our goal is to opportunistically collect cells ... on multiple individuals of as many species as we can, to provide a vast genetic resource for research and conservation efforts," explains Marlys Houck, curator at the Frozen Zoo.

The Zoo's efforts to save the northern white rhino from extinction have been well publicized. Other research groups have been able to create a northern white rhino embryo in the lab, combining eggs of the last two remaining females with frozen sperm from departed males. Scientists propose implanting those embryos in a surrogate mother of a closely related species, the southern white rhino, to help drag the species back from the edge of oblivion.

For the better part of a decade, conservationists have been focused on this goal, and now their work is paying off: In the "coming months," the lab-created northern white rhino embryo will be implanted in a surrogate.

Sudan, the last male northern white rhinoceros, was euthanized in 2018.

Marisa Korody, a conservation geneticist at the Frozen Zoo, stresses that this type of intervention was really the last hope for the rhino, a species whose population had already diminished to just eight individuals a decade ago.

"We only turn to these methods when more traditional conservation methods have failed," she says.

In Australia, researchers are telling whoever will listen that traditional conservation methods are failing.

"We've been saying for decades and decades, many of our species are on a slippery slope," says John Rodger, a marsupial conservationist at the University of Newcastle, Australia, and CEO of the Fauna Research Alliance, which has long advocated for the banking of genetic material of species in Australia and New Zealand.

In October, 240 of Australia's top scientists delivered a letter to the government detailing the country's woeful record on protecting species, citing the 1,800 plants and animals in danger of extinction, and the "weak" environmental laws which have been ineffective at keeping Australian fauna alive.

Institutions around Australia, such as Taronga Zoo and Monash University, have been biobanking samples since the '90s, reliant on philanthropic donations to stay online, but researchers say this is not enough. For at least a decade, they've been calling for the establishment of a national biobank to support Australia's threatened species.

John Rodger

"Our real problem in Australia ... is underinvestment," Rodger says. "You've got to accept this is not a short-term investment."

The current government installed a threatened-species commissioner in 2017 and committed $255 million ($171 million in US dollars) in funding to improve the prospects of 20 mammal species by 2020. In the most recent progress report, released in 2019, only eight of those 20 were identified as having an "improved trajectory," meaning populations were either increasing faster or declining slower compared to 2015.

A spokesperson for the commissioner outlined the $50 million investment to support immediate work to protect wildlife following the bushfires, speaking to monitoring programs, establishment of "insurance populations" and feral cat traps. No future strategies regarding biobanking were referenced.

Researchers believe we need to act now to preserve iconic Australian species like the koala.

In the wake of the catastrophic bushfire season and the challenges posed by climate change, Australia's extinction crisis is again in the spotlight. Koalas are plastered over social media with charred noses and bandaged skin. On the front page of newspapers, kangaroos bound in front of towering walls of flame.

Houck notes that San Diego's Frozen Zoo currently stores cell lines "from nearly 30 marsupial species, including koala, Tasmanian devil and kangaroo," but that's only one-tenth of the known marsupial species living in Australia today.

"Nobody in the world is seriously working on marsupials but us," Rodger says. "We've got a huge interest in maintaining these guys for tourism, national icons... you name it."

There's a creeping sense of dread in the researchers I talk to that perhaps we've passed a tipping point, not just in Australia, but across the world. "We are losing species at an alarming rate," says Korody from the Frozen Zoo. "Some species are going extinct before we even know they are there."

With such high stakes, Pask and his dunnarts are in a race against time. Perfecting the techniques to genetically engineer the tiny marsupial's cells will help enable the preservation of all marsupial species for generations to come, future-proofing them against natural disasters, disease, land-clearing and threats we may not even be able to predict right now.

Pask reasons "we owe it" to marsupials to develop these tools and, at the very least, biobank their cells if we can't prevent extinction. "We really should be investing in this stuff now," he says. He's optimistic.

In some distant future, years from now, a bundle of frozen stem cells might just bring the koala or the kangaroo back from the brink of extinction.

And for that, we'll have the dunnart to thank.

Originally published Feb. 18, 5 a.m. PT.

Original post:
Building a 'doomsday vault' to save the kangaroo and koala from extinction - CNET

Genetic Engineering in Humans About Its Future Pros and …

Genetic testing may also apply another scientific strategy to the field of eugenics, or to intervene to promote a social philosophy that improves the genetic characteristics of humans. In the past, eugenics was used to demonstrate practices including involuntary sterilization and euthanasia.

Today, many people are concerned that preimplantation genetic diagnosis may be well established and can be applied technically to select specific non-disease features (rather than eliminating the serious diseases currently used) implanted embryos, thus equivalent to a eugenics Form of study.

In the media, this possibility has been sensational and often referred to as the so-called designer baby creation, which is even included in the Oxford English Dictionary. Although possible, this genetic technology has not yet been implemented; nevertheless, it still brings many intense moral issues.

The selection and enhancement of embryo characteristics can lead to ethical issues involving individuals and society. First, does the choice of specific characteristics poses a health risk, otherwise, these risks do not exist?

The safety of procedures for preimplantation genetic diagnosis is currently under investigation and, as this is a relatively new form of reproductive technology, lacks long-term data and a sufficient number of subjects.

However, a security question often asked about the fact that most genes have multiple effects. For example, in the late 1990s, scientists discovered a gene associated with memory (Tang et al., 1999).

Modification of this gene in mice greatly improved learning and memory, but it also caused an increased sensitivity to pain (Wei et al., 2001), which is clearly not an ideal feature.

In addition to security issues, personal freedom issues arise. For example, when a child cannot express consent by himself, should parents be allowed to manipulate the childs genes to select certain characteristics?

Suppose a mother and father choose an embryo based on their so-called musical sexual predisposition, but the child does not like music when he grows up. Does this change the childs feelings about his or her parents, and vice versa?

Finally, as far as society is concerned, everyone cannot get this expensive technology. Therefore, perhaps only the most privileged members of society can have designer children with more intelligence or physical appeal. This can cause genetic aristocracy and lead to new forms of inequality.

At present, these questions and conjectures are purely hypothetical because the techniques required for feature selection are not yet available. In fact, this technique may not be possible considering that most features are complex and involve many genes. Nevertheless, if you can create genetically enhanced humans, then thinking about these and other issues related to genetic engineering is also important.

After all, the vision of a designer baby may not be that far away. Last year was full of news about genetic engineering most of which was driven by cutting and pasting technique called Crispr. At the top of the list. Crisp can modify human embryos to correct relatively common, often fatal, mutations.

A controversial cell biologist named Shoukhrat Mitalipov, who pioneered work in the US, said his team not only used CRISPR to correct mutations in newly fertilized embryos, but they did it through a mechanism.

If not novel, at least it is unusual. The response of the scientific community is direct and negative. They just didnt buy a bit. So, Wednesday, in Nature Mitafilov published the initial working journal two groups of researchers published a criticism of the Mitalipov 2017 paper and Mitalipovs sharp, acronym and infographic filled with criticism trying to respond. Because morality doesnt matter well, not yet if science doesnt actually work.

You know how the baby is made, right? Ok, Mitalipovs team didnt do that. Scientific research using existing human embryos is contraindicated in most cases in the United States, so scientists fertilize them with normal human eggs and fertilize them with sperm containing the mutant MYBPC3 gene.

This version is a disease called hypertrophic cardiomyopathy, which is the most common cause of sudden death in young athletes. People with two mutants MYBPC3 one from mom, another from dad, or homologous alleles, in genetic language rarely survived childhood. Only one person who replicates heterozygotes often develops heart problems as they age.

To try to correct the mutation, Mitalipovs team used CRISPR to cut the mutant gene from the paternal chromosome and then insert the synthetic corrected version.

But the second step did not happen. In contrast, according to the analysis of Mitalipov, the cells replicated the wild-type gene from the maternal chromosome and inserted it. Results: The embryo has two wild-type alleles. It is called homology-dependent repair or homologous homeopathic repair.

Some of these authors have been studying DNA repair, and somehow they missed the elephant in the room, said Mitalipov, director of the Embryonic Cell and Gene Therapy Center at Oregon Health and Science University. We point out that there is a huge gap in how genes are repaired. We are not sure if it occurs in the somatic lineage, but in the embryonic lineage we have now demonstrated this.

Embryologists and cell biologists dont think they missed the elephant. They dont think so. We think there is another explanation, said Paul Thomas, the editor of the SA genome at the South Australian Institute of Health and Medical Research, a lead author of a review article.

Thomass research shows that in mice, Crispy tends to cut large pieces of DNA from the genome, the so-called large deletions. He suspects that this is also what happened in the Mitalipov embryos they missed a lot of deletion failures. If you create a lot of deletes on a chromosome, you need to specialize in that event, Thomas said. If you use the test method they use, this is a very standard test and cannot be detected.

Its like trying to figure out how many bagels a bakery makes by calculating whats on the shelf at the end of the day. Your statistics will say that the bakery mainly produces blueberries, but thats because the good taste of poppy seeds, garlic, salt and plains is invisible until you arrive. Your number will overestimate the proportion of blueberry production to the overall bagel.

Is this just a problem for mice and men? of course. Of course, more and more people are seeing a large number of mouse embryos missing. It is unclear whether a large number of deletions have occurred in human embryos because in fact we only have this research and a few other studies, Thomas said.

So Mitalipovs team returned to the lab. They took their old samples and re-analyzed them. This technique, called polymerase chain reaction, allows sequencing and analysis of a large enough amount of DNA. This time, they watched a longer chromosome.

We used large-scale PCR for analysis, up to 10,000 base pairs, and we still dont see any missing, Mitalipov said. He did not expect to find anything. The first paper of his group reported a success rate that is, a modified mutation rate about 70%. Mitalipov said it is hard to believe that 70% of his embryos will have a large number of defects caused by Crispr. He said that this made the technology unusable.

However, the case has not yet been closed. We were very surprised that they did not see any evidence of deletion in any of their responses, Thomas said. We dont think they completely rule out this possibility. One of Thomass co-authors, Fatwa Adikusuma, proposed a more accurate method of detection, such as qPCR (quantitative detection of DNA amount hence Q value). Mitalipov has not tried it.

Other teams have other questions. For example, a team led by Dieter Egli of Columbia University and Maria Jasin of the Memorial Sloan Kettering Cancer Center (including the outspoken Georges Biotech expert George Church) wondered how the CRIS
PR complex could support the maternal wild-type gene because, In the early part of cell division, mother contribution and father contribution are separate.

According to Mitalipov, the parental DNA cluster contained in an envelope called a pronucleus is exposed enough time for the repair process to work. Paul Knoepfler, a cell biologist at the University of California, Davis, said: If this is correct, what puzzles them is that they dont report more mosaics in these embryos.

Refers to a single organism with different genomes in different cells. The fragility is so late, for example in the two-cell embryo stage, which can lead to different genetic results, Knoepfler said and this could lead to later unhealthy embryos.

So is it possible for Mitalipov to do the right thing? As mentioned above, the new data is consistent with the genetic correction, Jasin wrote in an email. However, she said that Mitalipovs own response shows how difficult this research is.

When his team could not detect the parents allele, one of his embryos showed allele dropout. Not sure if there is no genetic correction for gene homologous recombination in all embryos, some embryos, or in the most extreme cases, adds Jasin.

Everyone, including Mitalipov, said that more research is needed to determine. It doesnt matter to him; he knows that people have a lot of concerns about what he said. If his method does work, then it only applies to embryos with a wild-type copy of the gene, on the one hand, there must be a wild-type gene version to replicate the cells.

But more importantly, new ideas require time and work to penetrate into one area. There is dogma, especially in biology, Mitalipov said. We just accepted our findings, calling it an unknown but powerful repair pathway in human embryos.

This dogma definitely takes time to make way for this approach. Mitalipovs team has strengthened their case to some extent, Knoepfler said. Maybe this points to the direction we fundamentally understand the new mechanism in early human embryos, but it is also possible that we will treat this completely differently a year later. Either way, for something going to the clinic, its my performance must exceed 70%. This means its time to do more work in the lab.

See the original post here:
Genetic Engineering in Humans About Its Future Pros and ...

China Uses DNA to Map Faces, With Help From the West – The New York Times

TUMXUK, China In a dusty city in the Xinjiang region on Chinas western frontier, the authorities are testing the rules of science.

With a million or more ethnic Uighurs and others from predominantly Muslim minority groups swept up in detentions across Xinjiang, officials in Tumxuk have gathered blood samples from hundreds of Uighurs part of a mass DNA collection effort dogged by questions about consent and how the data will be used.

In Tumxuk, at least, there is a partial answer: Chinese scientists are trying to find a way to use a DNA sample to create an image of a persons face.

The technology, which is also being developed in the United States and elsewhere, is in the early stages of development and can produce rough pictures good enough only to narrow a manhunt or perhaps eliminate suspects. But given the crackdown in Xinjiang, experts on ethics in science worry that China is building a tool that could be used to justify and intensify racial profiling and other state discrimination against Uighurs.

In the long term, experts say, it may even be possible for the Communist government to feed images produced from a DNA sample into the mass surveillance and facial recognition systems that it is building, tightening its grip on society by improving its ability to track dissidents and protesters as well as criminals.

Some of this research is taking place in labs run by Chinas Ministry of Public Security, and at least two Chinese scientists working with the ministry on the technology have received funding from respected institutions in Europe. International scientific journals have published their findings without examining the origin of the DNA used in the studies or vetting the ethical questions raised by collecting such samples in Xinjiang.

In papers, the Chinese scientists said they followed norms set by international associations of scientists, which would require that the men in Tumxuk (pronounced TUM-shook) gave their blood willingly. But in Xinjiang, many people have no choice. The government collects samples under the veneer of a mandatory health checkup program, according to Uighurs who have fled the country. Those placed in internment camps two of which are in Tumxuk also have little choice.

The police prevented reporters from The New York Times from interviewing Tumxuk residents, making verifying consent impossible. Many residents had vanished in any case. On the road to one of the internment camps, an entire neighborhood had been bulldozed into rubble.

Growing numbers of scientists and human rights activists say the Chinese government is exploiting the openness of the international scientific community to harness research into the human genome for questionable purposes.

Already, China is exploring using facial recognition technology to sort people by ethnicity. It is also researching how to use DNA to tell if a person is a Uighur. Research on the genetics behind the faces of Tumxuks men could help bridge the two.

The Chinese government is building essentially technologies used for hunting people, said Mark Munsterhjelm, an assistant professor at the University of Windsor in Ontario who tracks Chinese interest in the technology.

In the world of science, Dr. Munsterhjelm said, theres a kind of culture of complacency that has now given way to complicity.

Sketching someones face based solely on a DNA sample sounds like science fiction. It isnt.

The process is called DNA phenotyping. Scientists use it to analyze genes for traits like skin color, eye color and ancestry. A handful of companies and scientists are trying to perfect the science to create facial images sharp and accurate enough to identify criminals and victims.

The Maryland police used it last year to identify a murder victim. In 2015, the police in North Carolina arrested a man on two counts of murder after crime-scene DNA indicated the killer had fair skin, brown or hazel eyes, dark hair, and little evidence of freckling. The man pleaded guilty.

Despite such examples, experts widely question phenotypings effectiveness. Currently, it often produces facial images that are too smooth or indistinct to look like the face being replicated. DNA cannot indicate other factors that determine how people look, such as age or weight. DNA can reveal gender and ancestry, but the technology can be hit or miss when it comes to generating an image as specific as a face.

Phenotyping also raises ethical issues, said Pilar Ossorio, a professor of law and bioethics at the University of Wisconsin-Madison. The police could use it to round up large numbers of people who resemble a suspect, or use it to target ethnic groups. And the technology raises fundamental issues of consent from those who never wanted to be in a database to begin with.

What the Chinese government is doing should be a warning to everybody who kind of goes along happily thinking, How could anyone be worried about these technologies? Dr. Ossorio said.

With the ability to reconstruct faces, the Chinese police would have yet another genetic tool for social control. The authorities have already gathered millions of DNA samples in Xinjiang. They have also collected data from the hundreds of thousands of Uighurs and members of other minority groups locked up in detention camps in Xinjiang as part of a campaign to stop terrorism. Chinese officials have depicted the camps as benign facilities that offer vocational training, though documents describe prisonlike conditions, while testimonies from many who have been inside cite overcrowding and torture.

Even beyond the Uighurs, China has the worlds largest DNA database, with more than 80 million profiles as of July, according to Chinese news reports.

If I were to find DNA at a crime scene, the first thing I would do is to find a match in the 80 million data set, said Peter Claes, an imaging specialist at the Catholic University of Leuven in Belgium, who has studied DNA-based facial reconstruction for a decade. But what do you do if you dont find a match?

Though the technology is far from accurate, he said, DNA phenotyping can bring a solution.

To unlock the genetic mysteries behind the human face, the police in China turned to Chinese scientists with connections to leading institutions in Europe.

One of them was Tang Kun, a specialist in human genetic diversity at the Shanghai-based Partner Institute for Computational Biology, which was founded in part by the Max Planck Society, a top research group in Germany.

The German organization also provided $22,000 a year in funding to Dr. Tang because he conducted research at an institute affiliated with it, said Christina Beck, a spokeswoman for the Max Planck Society. Dr. Tang said the grant had run out before he began working with the police, according to Dr. Beck.

Another expert involved in the research was Liu Fan, a professor at the Beijing Institute of Genomics who is also an adjunct assistant professor at Erasmus University Medical Center in the Netherlands.

Both were named as authors of a 2018 study on Uighur faces in the journal Hereditas (Beijing), published by the government-backed Chinese Academy of Sciences. They were also listed as authors of a study examining DNA samples taken last year from 612 Uighurs in Tumxuk that appeared in April in Human Genetics, a journal published by Springer Nature, which also publishes the influential journal Nature.

Both papers named numerous other authors, including Li Caixia, chief forensic scientist at the Ministry of Public Security.

In an interview, Dr. Tang said he did not know why he was named as an author of the April paper, though he said it might have been because his graduate students worked on it. He said he had ended his affiliation with the Chinese police in 2017 because he felt their biological samples and research were subpar.

To be frank, you overestimate how genius the Chinese police is, said Dr. Tang, who had recently shut down a business focused on DNA testin
g and ancestry.

Like other geneticists, Dr. Tang has long been fascinated by Uighurs because their mix of European and East Asian features can help scientists identify genetic variants associated with physical traits. In his earlier studies, he said, he collected blood samples himself from willing subjects.

Dr. Tang said the police approached him in 2016, offering access to DNA samples and funding. At the time, he was a professor at the Partner Institute for Computational Biology, which is run by the Chinese Academy of Sciences but was founded in 2005 in part with funding from the Max Planck Society and still receives some grants and recommendations for researchers from the German group.

Dr. Beck, the Max Planck spokeswoman, said Dr. Tang had told the organization that he began working with the police in 2017, after it had stopped funding his research a year earlier.

But an employment ad on a government website suggests the relationship began earlier. The Ministry of Public Security placed the ad in 2016 seeking a researcher to help explore the DNA of physical appearance traits. It said the person would report to Dr. Tang and to Dr. Li, the ministrys chief forensic scientist.

Dr. Tang did not respond to additional requests for comment. The Max Planck Society said Dr. Tang had not reported his work with the police as required while holding a position at the Partner Institute, which he did not leave until last year.

The Max Planck Society takes this issue very seriously and will ask its ethics council to review the matter, Dr. Beck said.

It is not clear when Dr. Liu, the assistant professor at Erasmus University Medical Center, began working with the Chinese police. Dr. Liu says in his online rsum that he is a visiting professor at the Ministry of Public Security at a lab for on-site traceability technology.

In 2015, while holding a position with Erasmus, he also took a post at the Beijing Institute of Genomics. Two months later, the Beijing institute signed an agreement with the Chinese police to establish an innovation center to study cutting-edge technologies urgently needed by the public security forces, according to the institutes website.

Dr. Liu did not respond to requests for comment.

Erasmus said that Dr. Liu remained employed by the university as a part-time researcher and that his position in China was totally independent of the one in the Netherlands. It added that Dr. Liu had not received any funding from the university for the research papers, though he listed his affiliation with Erasmus on the studies. Erasmus made inquiries about his research and determined there was no need for further action, according to a spokeswoman.

Erasmus added that it could not be held responsible for any research that has not taken place under the auspices of Erasmus by Dr. Liu, even though it continued to employ him.

Still, Dr. Lius work suggests that sources of funding could be mingled.

In September, he was one of seven authors of a paper on height in Europeans published in the journal Forensic Science International. The paper said it was backed by a grant from the European Union and by a grant from Chinas Ministry of Public Security.

Dr. Tang said he was unaware of the origins of the DNA samples examined in the two papers, the 2018 paper in Hereditas (Beijing) and the Human Genetics paper published in April. The publishers of the papers said they were unaware, too.

Hereditas (Beijing) did not respond to a request for comment. Human Genetics said it had to trust scientists who said they had received informed consent from donors. Local ethics committees are generally responsible for verifying that the rules were followed, it said.

Springer Nature said on Monday that it had strengthened its guidelines on papers involving vulnerable groups of people and that it would add notes of concern to previously published papers.

In the papers, the authors said their methods had been approved by the ethics committee of the Institute of Forensic Science of China. That organization is part of the Ministry of Public Security, Chinas police.

With 161,000 residents, most of them Uighurs, the agricultural settlement of Tumxuk is governed by the powerful Xinjiang Production and Construction Corps, a quasi-military organization formed by decommissioned soldiers sent to Xinjiang in the 1950s to develop the region.

The state news media described Tumxuk, which is dotted with police checkpoints, as one of the gateways and major battlefields for Xinjiangs security work.

In January 2018, the town got a high-tech addition: a forensic DNA lab run by the Institute of Forensic Science of China, the same police research group responsible for the work on DNA phenotyping.

Procurement documents showed the lab relied on software systems made by Thermo Fisher Scientific, a Massachusetts company, to work with genetic sequencers that analyze DNA fragments. Thermo Fisher announced in February that it would suspend sales to the region, saying in a statement that it had decided to do so after undertaking fact-specific assessments.

For the Human Genetics study, samples were processed by a higher-end sequencer made by an American firm, Illumina, according to the authors. It is not clear who owned the sequencer. Illumina did not respond to requests for comment.

The police sought to prevent two Times reporters from conducting interviews in Tumxuk, stopping them upon arrival at the airport for interrogation. Government minders then tailed the reporters and later forced them to delete all photos, audio and video recordings taken on their phones in Tumxuk.

Uighurs and human rights groups have said the authorities collected DNA samples, images of irises and other personal data during mandatory health checks.

In an interview, Zhou Fang, the head of the health commission in Tumxuk, said residents voluntarily accepted free health checks under a public health program known as Physicals for All and denied that DNA samples were collected.

Ive never heard of such a thing, he said.

The questions angered Zhao Hai, the deputy head of Tumxuks foreign affairs office. He called a Times reporter shameless for asking a question linking the health checks with the collection of DNA samples.

Do you think America has the ability to do these free health checks? he asked. Only the Communist Party can do that!

Read the rest here:
China Uses DNA to Map Faces, With Help From the West - The New York Times

AI and gene-editing pioneers to discuss ethics – Stanford University News

Upon meeting for the first time at a dinner at Stanford earlier this year, Fei-Fei Li and Jennifer Doudna couldnt help but note the remarkable parallels in their experiences as scientists.

Stanfords Fei-Fei Li and Jennifer Doudna of UC Berkeley will discuss the ethics of artificial intelligence and CRISPR technology. (Image credit: Getty Images)

Both women helped kickstart twin revolutions that are profoundly reshaping society in the 21st century Li in the field of artificial intelligence (AI) and Doudna in the life sciences. Both revolutions can be traced back to 2012, the year that computer scientists collectively recognized the power of Lis approach to training computer vision algorithms and that Doudna drew attention to a new gene-editing tool known as CRISPR-Cas9 (CRISPR for short). Both pioneering scientists are also driven by a growing urgency to raise awareness about the ethical dangers of the technologies they helped create.

It was just incredible to hear how similar our stories were. Not just the timing of our scientific discoveries, but also our sense of responsibility for the ethics of the science are just so similar, said Li, who is a professor of computer science at Stanfords School of Engineering and co-director of the Stanford Institute for Human-Centered Artificial Intelligence (HAI).

The ethical angle to what we were doing was not something that either of us anticipated but that we found ourselves quickly drawn to, said Doudna, who is a professor of chemistry and of molecular and cell biology at the University of California, Berkeley.

The echoes between Li and Doudnas lives were also not lost on the dinner host that night, Stanford political science professor Rob Reich, who invited the pair to resume their conversation in public. Their talk, titled CRISPR, AI, and the Ethics of Scientific Discovery, will take place at Stanford on Nov. 19 and will be moderated by Stanford bioengineering professor Russ Altman(livestream will be available here).

The event is organized by the Stanford McCoy Family Center for Ethics in Society and HAI and is part of the Ethics, Society & Technology Integrative Hub that arose from the universitys Long-Range Vision.

The subject of the lecture hits the sweet spot of what the Integrative Hubs work is about, which is to cultivate and support the large community of faculty and students who work at the intersection of ethics, society and technology, said Reich, who directs the Center for Ethics in Society and co-directs the Integrative Hub.

I cant think of two better people to engage in a conversation and to really take seriously these questions of how, as you discover the effects of what youve created, do you bring ethical implications and societal consequences into the discussion? said Margaret Levi, a professor of political science at Stanfords School of Humanities and Sciences. Levi is also the Sara Miller McCune Director of the Center for Advanced Study in the Behavioral Sciences and co-director of the Integrative Hub.

Fei-Fei Li is a professor of computer science and co-director of Stanfords Institute for Human-Centered Artificial Intelligence. (Image credit: L.A. Cicero)

In 2006, Li wondered if computers could be taught to see the same way that children do through early exposure to countless objects and scenes, from which they could deduce visual rules and relationships. Her idea ran counter to the approach taken by most AI researchers at the time, which was to create increasingly customized computer algorithms for identifying specific objects in images.

Lis insight culminated in the creation of ImageNet, a massive dataset consisting of millions of training images, and an international computer vision competition of the same name. In 2012, the winner of the ImageNet contest beat competitors by a wide margin by training a type of AI known as a deep neural network on Lis dataset.

Li immediately understood that an important milestone in her field had just been reached, and despite being on maternity leave at Stanford, flew to Florence, Italy, to attend the award ceremony in person. I bought a last-minute ticket, Li said. I was literally on the ground for about 18 hours before flying back.

Computer vision and image recognition are largely responsible for AIs rapid ascent in recent years. They enable self-driving cars to detect objects, Facebook to tag people in photos and shopping apps to identify real-world objects using a phones camera.

Within a year or so of when the ImageNet result was announced, there was an exponential growth of interest and investment into this technology from the private industry, Li said. We recognized that AI had gone through a phase shift, from being a niche scientific field to a potential transformative force of our industry.

The field of biology underwent its own phase shift in the summer of 2012 when Doudna and her colleagues published a groundbreaking paper in the journal Science that described how components of an ancient antiviral defense system in microbes could be programmed to cut and splice DNA in any living organism, including humans, with surgical precision. CRISPR made genomes as malleable as a piece of literary prose at the mercy of an editors red pen, Doudna would later write.

CRISPR could one day enable scientists to cure myriad genetic diseases, eradicate mosquito-borne illnesses, create pest-resistant plants and resurrect extinct species. But it also raises the specter of customizable designer babies and lasting changes to the human genetic code through so-called germline editing, or edits made to reproductive cells that are transmitted to future generations.

This bioethics nightmare scenario was realized last fall when a Chinese researcher declared that he had used CRISPR to edit the genomes of twin girls in order to make them resistant to HIV. Doudna decried the act but allows that her own views on germline editing are still evolving.

Ive gone from thinking never, ever to thinking that there could be circumstances that would warrant that kind of genome editing, she said. But it would have to be under circumstances where there was a clear medical need that was unmet by any other means and the technology would have to be safe.

Both Li and Doudna fervently believe in the potential of their technologies to benefit society. But they also fear CRISPR and AI could be abused to fuel discrimination and exacerbate social inequalities.

The details are different for CRISPR and AI, but I think those concerns really apply to both, Doudna said.

Rather than just leaving such concerns to others to work out, both scientists have stepped outside of the comfort of their labs and taken actions to help ensure their worst fears dont come to pass. I almost feel that at this point of history I need to do this, not that its my natural tendency, Li said. It really is about our collective future due to technology.

Both scientists have testified before Congress about the possibilities and perils of their technologies. Li also co-launched a nonprofit called AI4All to increase inclusion and diversity among computer engineers and she co-directs Stanford HAI, which aims to develop human-centered AI technologies and applications. Doudna spends significant time talking to colleagues, students and the public about CRISPR. In 2015 she organized the first conference to discuss the safety and ethics of CRISPR genome editing.

Because we were involved in the origins of CRISPR, I felt it was especially important for my colleagues and me to be part of that discussion and really help to lead it, Doudna said. I asked myself, If I dont do it, who will?

To read all stories about Stanford science, subscribe to the biweekly Stanford Science Digest.

Altman is the Kenneth Fong Professor of Bioengineering, Genetics, Medicine, Biomedical Data Science and host of the Stanford Engineering radio show The Future of Everything. Levi is a member of Stanford Bio-X, the Wu Tsai Neurosciences Institute, and the Stanford Woods
Institute for the Environment. Li is the Sequoia Capital Professor at Stanford and a member of Stanford Bio-X and the Wu-Tsai Neurosciences Institute.

Originally posted here:
AI and gene-editing pioneers to discuss ethics - Stanford University News

This Mom Is Buying Mutant Mice From China To Find A Cure For Her Sons Rare Genetic Disease – BuzzFeed News

When Amber Freed first told doctors her baby boy wasnt able to move his hands, they said that wasnt possible.

Freed had given birth to twins in March 2017. While her baby girl, Riley, squirmed and babbled and crawled through the first year of her life, her fraternal twin, Maxwell, was different. He didnt crawl or babble like Riley did. I would fill out their baby books each month, and Riley had met all of these milestones. Maxwell didnt reach one, she said. Most alarmingly, however, Freed noticed that he never moved his hands.

She knew the news was going to be bad when they sent her to the sad room at the hospital, a featureless conference space filled with grim-faced doctors, to hear the diagnosis.

You take your baby to the doctor and you say, He cant move his hands. And they look at you and they say, Of course he can, said Freed.

Then they look for themselves, and you can see from the look on their faces that they have never seen anything like this.

On June 14, 2018, at the Children's Hospital Colorado in Denver, Maxwell was diagnosed with a genetic disease called SLC6A1. The diagnosis explained why the infant hadnt moved his hands or learned how to speak for the first year of his life, while Riley was thriving. But it didnt explain much else: All the doctors who diagnosed Maxwell knew about the genetic disease came from a single five-page study published in 2014, the year of its discovery. It was too rare to even have a name, she was told, so the doctors just called it by the name of the affected gene: SLC6A1.

Now her 2-year-old son is at the center of a multimillion-dollar race against time, one thats come to include genetics researchers whom Freed personally recruited, paid for by $1 million that Freed and her husband, Mark, have raised themselves. At the center of their research will be specially crafted mutant mice that Freed paid scientists in China to genetically alter to have the same disease as Maxwell. The four mice are scheduled to arrive stateside next week, but Freed said shes prepared to smuggle them into the US disguised as pets if there are any problems.

In total, Amber and Mark will need to raise as much as $7 million to test a genetic treatment for their child. And unless they can find and fund a cure, SLC6A1 will condemn Maxwell to severe epileptic seizures, most likely starting before he turns 3. The seizures may trigger developmental disabilities for a lifetime, often accompanied by aggressive behavior, hand flapping, and difficulty speaking.

And the Freeds will have to do it largely alone there are only an estimated 100 other people diagnosed with SLC6A1 in the world. This is the rarest of the rare diseases, pediatric geneticist Austin Larson of the Children's Hospital Colorado told BuzzFeed News.

SLC6A1 is just one of thousands of untreatable rare diseases, and the perilous path it has set up for Freed, half science quarterback and half research fundraiser, is one that few parents can follow. My dream is to create a playbook of how I did this for those that come after me, said Freed. I never want there to be another family that has suffered like this.

You can think of SLC6A1 as a vacuum cleaner in the brain, genetic counselor Katherine Helbig of the Childrens Hospital of Philadelphia, told BuzzFeed News. Helbig will speak at the first conference on the gene at the American Epilepsy Society meeting in Baltimore on Dec. 5, an effort organized by Freed.

The protein made by the gene acts as a stop sign to message-carrying chemicals in the brain, halting them by vacuuming them up once they reach their destination brain cell, Helbig explained.

When one of the two copies of the SLC6A1 gene in every brain cell is damaged, like in Maxwells case, too little of its protein is available to perform its vacuuming duties, leading to miscommunication between cells, developmental disorders, autism-like symptoms, and, often, severe epileptic seizures.

Maxwell is about the age when epileptic seizures typically start in kids with the genetic disease, said Helbig, adding, There probably are many more children out there who have it, but they just havent had the right test to find it. At least 100 similar genetic defects cause similar kinds of epilepsy, afflicting about 1 in 2,000 kids, she said.

I was the one who presented this diagnosis to Amber, said Larson of the Children's Hospital Colorado. There was no medicine or diet or any other treatment for SLC6A1. It wasnt an easy conversation. Most of the time when we present a diagnosis for a genetic condition, there is not a specific treatment available.

At that moment, it was just vividly clear that the only option was for me to create our own miracle, said Freed. Nobody else was going to help.

Half the battle with a rare genetic disease is getting researchers interested, said Helbig.

At that moment, it was just vividly clear that the only option was for me to create our own miracle. Nobody else was going to help.

So that is what Freed set out to do. She quit her job as a financial analyst and started making phone calls to scientists, calling 300 labs in the first three months. For those who didnt respond, she sent them snacks via Uber Eats.

Her search, and a rapid-fire education on genetic diseases, led her to conclude the best hope for helping Maxwell was an experimental technique called gene therapy.

All the roads zeroed in on one scientist: Steven Gray of the University of Texas Southwestern Medical Center in Dallas. In 2018, a team headed by Gray reported the first human experiments of gene transfer by spinal injection, conducted in 5 to 10 children with mutations in a gene called GAN that causes swelling in brain cells.

The GAN gene transfer in that experiment, first tested in mice, attached a corrected version of the damaged gene to a harmless virus. Viruses reproduce by infecting cells and hijacking their DNA machinery to reproduce their own genes, making more viruses. The gene therapy virus in turn leaves behind a corrected gene in the DNA of cells they infect. Injected into the spinal cord, Grays virus can travel straight to the brain, leaving behind the corrected gene after the virus has run its course.

I gave him my 30-second equity analyst pitch. I told him why Maxwell was a good patient, that we would raise $4 million to $7 million, and quarterback every step of the research, she said. And it worked. He agreed to make it a priority if we could raise the money.

The SLC6A1 researchers with the Freeds at a science meeting. From left: Terry Jo Bichell, Frances Shaffo, Amber Freed, Katty Kang, and Mark Freed.

Less than a month after meeting Gray, Freed contacted a lab at Tongji University in Shanghai that was also researching SLC6A1. The lab agreed to develop a mouse with Maxwells specific mutation for less than $50,000, using a gene modification technology called CRISPR that has revolutionized genetic engineering in the lab. CRISPR mice are much more expensive in the US, and this lab had experience with the gene, said Freed.

By July of this year, an experiment with a gene therapy virus that corrects SLC6A1 was tested on normal lab mice, which showed no sign of a toxic response, an encouraging sign. And by September, a line of CRISPR mice with Maxwells exact genetic mutation had been created at Tongji University.

It is the literal mouse version of him, said Freed. Testing a therapy in this mouse is as close as science can get to testing in my son directly.

To pay for all this, Maxwells family started fundraising last November and organized the first medical symposium on SLC6A1 in New Orleans that same month. They opened a GoFundMe account, which has raised $600,000, and held 35 fundraisers, which raised an additional $400,000 by October. In one charity competition, Larson from the Colorado Childrens Hospital, who diagnosed Maxwell, personally helped her raise $75,000.

It is the literal mouse version of him. Testing a therapy in this mouse is as close as sci
ence can get to testing in my son directly.

That money is helping to pay for the next step getting the CRISPR mice to Grays lab to test the SLC6A1-correcting virus on them. But its not as simple as putting the mice in a box and shipping them by mail. The mice will be transferred through a lab at Vanderbilt University headed by Katty Kang, an expert on the neurotransmitter disrupted by Maxwells mutation.

Amber is helping us to advance science, and everyone is making this a priority because of the young lives at stake not just Maxwell, but other children this could help, Kang told BuzzFeed News.

Once the four mice arrive, they will spend several weeks in quarantine, be tested to make sure they have Maxwells specific point mutation in the SLC6A1 gene, and breed with normal lab mice to produce generations of mixed-inheritance mice to serve as controls in future experiments. The mutant mice will be closely monitored before they head to UT Southwestern to make sure that they demonstrate the same problems and genetics as human patients with SLC6A1 and can therefore be used in any future clinical trials of gene therapy.

Right now at UT Southwestern, results from a safety test of the gene therapy virus conducted by Grays lab on young, normal lab mice is awaiting publication. If that works out, once the Chinese mice are sent over, they will also receive the gene-correcting virus. His team will see if their symptoms improve and to what extent their brain cells accept the corrected gene.

Maxwell's brain cells seen through a microscope (left), and a sample of his cells in a petri dish.

And then, Freed just needs another $5.5 million. Half a million dollars will go to test the virus in a second SLC6A1 animal model, likely a rat, as another safety step. Two million dollars will go toward creating more of the gene-correcting virus for a human safety study if that proves to be safe. And finally, if all that works out, $3 million will be needed to conduct the experiment on Maxwell and other children next year, following the path of the GAN clinical trial led by Gray.

Its a really horrible realization that the only thing standing in the way of a cure for your 2-year-old is money, said Freed.

Freed acknowledges that she has only been able to pursue a cure for Maxwell because her family has the resources to do so which she would never have had growing up in small towns in Texas, Montana, and Colorado in a poor family affected by alcoholism. I grew up visiting my parents in rehab and knew what to say to put a family member on a 72-hour psychiatric hold by age 12, she said. She dug herself out to build a career in finance, and hoped her kids would never have to experience the struggles she did growing up.

Even so, the fight hasnt been easy on them or on Maxwells sister, Riley.

Freed worries her daughter is growing up in doctors' waiting rooms, waiting on treatments for her brother to end. Maxwells disease has progressed, causing him to constantly clench his fingers, and sometimes pull his sisters hair. His 3-year-old sister will gently remind him, Soft hands, Maxie.

Families like the Freeds are at the forefront of efforts to turn diagnoses of rare genetic ailments, which often used to be the stopping point for medicine, into treatments. A similar case saw the family of a 3-year-old girl, Mila Makovec, raise $3 million for gene therapy to cure her Batten disease, a deadly genetic brain disease that affects 2 to 4 of every 100,000 children born in the US.

In a New England Journal of Medicine editorial on that case published in October, FDA officials questioned how high the agency should set the safety bar for such treatments, meant for severe diseases affecting so few people. In these cases, parents are often collaborators in developing treatments, and might not want to stop efforts that come with high risks. Even in rapidly progressing, fatal illnesses, precipitating severe complications or death is not acceptable, so what is the minimum assurance of safety that is needed? wrote senior FDA officials Janet Woodcock and Peter Marks.

This is way beyond what anyone expects of families.

Finally, Woodcock and Marks wrote, finding sustainable funding for such interventions may prove challenging, because the cost of production can be quite substantial, particularly for gene therapies.

In our era of financial inequality, the specter of wealthy parents buying custom genetic treatments for their childrens ailments while other parents desperately resort to GoFundMe accounts, or else do nothing looms as a possibility.

This is way beyond what anyone expects of families, said Larson. The pathway has been opened up by the brave new world of improved genetic diagnoses, and the coming of age of rapid genetic engineering tools like CRISPR.

But only 20 years ago, an experimental gene therapy that relied on a harmless virus killed an 18-year-old volunteer, Jesse Gelsinger, in a research misconduct case that brought gene therapy to a standstill. Now more than 2,500 gene therapy clinical trials have been conducted, and more than 370 are underway. The human genome was not sequenced until 2000; today, mapping an entire human gene map costs around $700. In this new era, customized treatments for rare genetic diseases like Maxwells are suddenly possible.

What I hope is that we are paving the way for other parents to help their children, said Freed.

Families of children with rare genetic diseases are also working together to make treatments like the one Freed is spearheading possible, said Larson.

They support each other and work together, he said. The best example might be the families of children with cystic fibrosis, who through the Cystic Fibrosis Foundation and the discovery of the gene responsible for the disease in 1989 have pushed for the discovery of new drug treatments. In October, the FDA approved a breakthrough pharmaceutical that could treat 90% of cases.

It is easier working with FDA on this kind of approach rather than starting from scratch, Gray told BuzzFeed News by email. After all, he said, its easier to follow a path that youve already walked down.

Similarly, Freed hopes the SLC6A1 Connect advocacy group she started can lead to similar treatments for other children with genetic epilepsies caused by the gene.

I dont think any parent should be expected to single-handedly cure his or her childs rare disease, said Helbig. Amber is a very tenacious and persistent person, and she will fight tooth and nail for her kids. But a lot of people dont have the resources and they shouldnt have to.

Helbig says that cautious optimism is appropriate on the chances of research yielding a genetic therapy for children like Maxwell. For SLC6A1, its really too early to say whether this is going to work.

But if it works, it might lead many more parents to get genetic tests for children that will reveal undiagnosed problems, she said. Many doctors discourage extensive genetic tests, thinking they wont find anything helpful. In the absence of known treatments, insurers are also reluctant to pay for such tests, discouraging all but the most fortunate and resourceful parents. Even for them, there are no guarantees.

The other tough reality is the possibility this treatment wont be completed in time to help Maxwell, said Freed. I love him with every ounce of my being, and I want him to know that I did everything humanly possible to change his outcome.

Read more:
This Mom Is Buying Mutant Mice From China To Find A Cure For Her Sons Rare Genetic Disease - BuzzFeed News

Youve heard of CRISPR, now meet its newer, savvier cousin CRISPR Prime – TechCrunch

CRISPR, the revolutionary ability to snip out and alter genes with scissor-like precision, has exploded in popularity over the last few years and is generally seen as the standalone wizard of modern gene-editing. However, its not a perfect system, sometimes cutting at the wrong place, not working as intended and leaving scientists scratching their heads. Well, now theres a new, more exacting upgrade to CRISPR called Prime, with the ability to, in theory, snip out more than 90 percent of all genetic diseases.

Just what is this new method and how does it work? We turned to IEEE fellow, biomedical researcher and dean of graduate education at Tuft Universitys school of engineering Karen Panetta for an explanation.

CRISPR is a powerful genome editor. It utilizes an enzyme called Cas9 that uses an RNA molecule as a guide to navigate to its target DNA. It then edits or modifies the DNA, which can deactivate genes or insert a desired sequence to achieve a behavior. Currently, we are most familiar with the application of genetically modified crops that are resistant to disease.

However, its most promising application is to genetically modify cells to overcome genetic defects or its potential to conquer diseases like cancer.

Some applications of genome editing technology include:

Of course, as with every technology, CRISPR isnt perfect. It works by cutting the double-stranded DNA at precise locations in the genome. When the cells natural repair process takes over, it can cause damage or, in the case where the modified DNA is inserted at the cut site, it can create unwanted off-target mutations.

Some genetic disorders are known to mutate specific DNA bases, so having the ability to edit these bases would be enormously beneficial in terms of overcoming many genetic disorders. However, CRISPR is not well suited for intentionally introducing specific DNA bases, the As, Cs, Ts, and Gs that make up the double helix.

Prime editing was intended to overcome this disadvantage, as well as other limitations of CRISPR.

Prime editing can do multi-letter base-editing, which could tackle fatal genetic disorders such as Tay-Sachs, which is caused by a mutation of four DNA letters.

Its also more precise. I view this as analogous to the precision lasers brought to surgery versus using a hand-held scalpel. It minimized damage, so the healing process was more efficient.

Prime editing can insert, modify or delete individual DNA letters; it can also insert a sequence of multiple letters into a genome with minimal damage to DNA strands.

Imagine being able to prevent cancer and/or hereditary diseases, like breast cancer, from ever occurring by editing out the genes that are makers for cancer. Cancer treatments are usually long, debilitating processes that physically and emotionally drain patients. It also devastates patients loved ones who must endure watching helpless on the sidelines as the patient battles to survive.

Editing out genetic disorders and/or hereditary diseases to prevent them from ever coming to fruition could also have an enormous impact on reducing the costs of healthcare, effectively helping redefine methods of medical treatment.

It could change lives so that long-term disability care for diseases like Alzheimers and special needs education costs could be significantly reduced or never needed.

Scientists recognized CRISPRs ability to prevent bacteria from infecting more cells and the natural repair mechanism that it initiates after damage occurs, thus having the capacity to halt bacterial infections via genome editing. Essentially, it showed adaptive immunity capabilities.

Its already out there! It has been used for treating sickle-cell anemia and in human embryos to prevent HIV infections from being transmitted to offspring of HIV parents.

IEEE Engineers, like myself, are always seeking to take the fundamental science and expand it beyond the petri dish to benefit humanity.

In the short term, I think that Prime editing will help generate the type of fetal like cells that are needed to help patients recover and heal as well as developing new vaccines against deadly diseases. It will also allow researchers new lower cost alternatives and access to Alzheimers like cells without obtaining them post-mortem.

Also, AI and deep learning is modeled after human neural networks, so the process of genome editing could potentially help inform and influence new computer algorithms for self-diagnosis and repair, which will become an important aspect of future autonomous systems.

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Youve heard of CRISPR, now meet its newer, savvier cousin CRISPR Prime - TechCrunch

Human germline engineering – Wikipedia

Human germline engineering is the process by which the genome of an individual is edited in such a way that the change is heritable. This is achieved through genetic alterations within the germ cells, or the reproductive cells, such as the egg and sperm.[1] Human germline engineering should not be confused with gene therapy. Gene therapy consists of altering somatic cells, which are all cells in the body that are not involved in reproduction. While gene therapy does change the genome of the targeted cells, these cells are not within the germline, so the alterations are not heritable and cannot be passed on to the next generation.[1]

The first attempt to edit the human germline was reported in 2015, when a group of Chinese scientists used the gene editing technique CRISPR/Cas9 to edit single-celled, non-viable embryos to see the effectiveness of this technique.[2] This attempt was rather unsuccessful; only a small fraction of the embryos successfully spliced the new genetic material and many of the embryos contained a large amount of random mutations.[2][3] The non-viable embryos that were used contained an extra set of chromosomes, which may have been problematic. In 2016, another similar study was performed in China which also used non-viable embryos with extra sets of chromosomes. This study showed very similar results to the first; there were successful integrations of the desired gene, yet the majority of the attempts failed, or produced undesirable mutations.[3]

The most recent, and arguably most successful, experiment in August 2017 attempted the correction of the heterozygous MYBPC3 mutation associated with Hypertrophic Cardiomyopathy in human embryos with precise CRISPRCas9 targeting. 52% of human embryos were successfully edited to retain only the wild type normal copy of MYBPC3 gene, the rest of the embryos were mosaic, where some cells in the zygote contained the normal gene copy and some contained the mutation.[4]

In November 2018, researcher Jiankui He claimed that he had created the first human genetically edited babies, known by their pseudonyms, Lulu (Chinese: ) and Nana (Chinese: ).[5][6]{

Human genetic modification is the direct manipulation of the genome using molecular engineering. The two different types of gene modification is "somatic gene modification" and "germline genetic modification." Somatic gene modification adds, cuts, or changes the genes in cells of a living person. Germline gene modification changes the genes in sperm, eggs, and embryos. These modifications would appear in every cell of the human body.

Human germline engineering is modifying the genes in the human sex cells that can be passed on to the future generations. This process is done by a complicated but an accurate technique that contains an enzyme complex called CRISPR/Cas9 clustered regularly interspaced short palindromic repeats, this enzyme can be found in many bacteria immune system, in which they use it to fight off any harmful infections.[7]

CRISPR is a repeated, short sequence of RNA that match with the genetic sequence that the scientists are aiming to modify or engineer. CRISPR works in rhythm with Cas9, an enzyme that splices the DNA. First, the CRISPR/Cas9 complex searches through the cell's DNA until it finds and binds to a sequence that matches the CRISPR, then, the Cas9 splices the DNA. After that, the scientist inserts a piece of DNA before the cell starts repairing the spliced part, said John Reidhaar-Olson, a biochemist at Albert Einstein College of Medicine in New York[8]. The main purpose of human germline engineering is to enable the scientists to discover the unknown functions of the genes by eliminating specific DNA fragments and observing the consequences in the targeted cell. Also, scientists use CRISPR technology to fix the gene mutations and to treat or eliminate some diseases that can be passed on to the offsprings[9].

CRISPR/cas9 is a genome editing tool that allows scientists to edit the genome by adding or removing sections of DNA. It contains an enzyme and RNA, the enzyme acting like scissors to alter the DNA while the RNA acts as a guide for those enzymes. This system is currently the fastest and cheapest way to genetically engineer on the market today and its uses are endless. The RNA in the CRISPR/cas9 allows researchers to target specific sequences in the genome making it possible for them to alter one sequence and not the others surrounding them. This is a new technology for scientists in the genomic altering field.[10]

Although the CRISPR/cas9 cannot yet be used in humans[citation needed], it allows scientists to target genes more effectively in diploid cells of mammals in order to one day be used in human research. Clinical trials are being conducted on somatic cells, but CRISPR could make it possible to modify the DNA of spermatogonial stem cells. This could eliminate certain diseases in human, or at least significantly decrease a disease's frequency until it eventually disappears over generations.[11] Cancer survivors theoretically would be able to have their genes modified by the CRISPR/cas9 so that certain diseases or mutations will not be passed down to their offspring. This could possibly eliminate cancer predispositions in humans.[11] Researchers hope that they can use the system in the future to treat currently incurable diseases by altering the genome altogether.

The Berlin Patient has a genetic mutation in the CCR5 gene (which codes for a protein on the surface of white blood cells, targeted by the HIV virus) that deactivates the expression of CCR5, conferring innate resistance to HIV. HIV/AIDS carries a large disease burden and is incurable (see Epidemiology of HIV/AIDS). One proposal is to genetically modify human embryos to give the CCR5 32 allele to people.

There are many prospective uses such as curing genetic diseases and disorders. If perfected, somatic gene editing can promise helping people who are sick. In the first study published regarding human germline engineering, the researchers attempted to edit the HBB gene which codes for the human -globin protein.[2] Mutations in the HBB gene result in the disorder -thalassaemia, which can be fatal.[2] Perfect editing of the genome in patients who have these HBB mutations would result in copies of the gene which do not possess any mutations, effectively curing the disease. The importance of editing the germline would be to pass on this normal copy of the HBB genes to future generations.

Another possible use of human germline engineering would be eugenic modifications to humans which would result in what are known as "designer babies". The concept of a "designer baby" is that its entire genetic composition could be selected for.[12] In an extreme case, people would be able to effectively create the offspring that they want, with a genotype of their choosing. Not only does human germline engineering allow for the selection of specific traits, but it also allows for enhancement of these traits.[12] Using human germline editing for selection and enhancement is currently very heavily scrutinized, and the main driving force behind the movement of trying to ban human germline engineering.[13]

The ability to germline engineer human genetic codes would be the beginning of eradicating incurable diseases such as HIV/AIDS, sickle-cell anemia and multiple forms of cancer that we cannot stop nor cure today.[14] Scientists having the technology to not only eradicate those existing diseases but to prevent them altogether in fetuses would bring a whole new generation of medical technology. There are numerous disease that humans and other mammals obtain that are fatal because scientists have not found a methodized ways to treat them. With germline engineering, doctors and scientists would have the ability to prevent known and future diseases from becoming an epidemic.

The topic of human germline engineering is a widely debated topic. It is formally outlawed in more than 40 countries. Currently, 15 of 22 Western European nations have outlawed human g
ermline engineering.[15] Human germline modification has for many years has been heavily off limits. There is no current legislation in the United States that explicitly prohibits germline engineering, however, the Consolidated Appropriation Act of 2016 banned the use of U.S. Food and Drug Administration (FDA) funds to engage in research regarding human germline modifications.[16] In recent years, as new founding is known as "gene editing" or "genome editing" has promoted speculation about their use in human embryos. In 2014, it has been said about researchers in the US and China working on human embryos. In April 2015, a research team published an experiment in which they used CRISPR to edit a gene that is associated with blood disease in non-living human embryos. All these experiments were highly unsuccessful, but gene editing tools are used in labs.

Scientists using the CRISPR/cas9 system to modify genetic materials have run into issues when it comes to mammalian alterations due to the complex diploid cells. Studies have been done in microorganisms regarding loss of function genetic screening and some studies using mice as a subject. RNA processes differ between bacteria and mammalian cells and scientists have had difficulties coding for mRNA's translated data without the interference of RNA. Studies have been done using the cas9 nuclease that uses a single guide RNA to allow for larger knockout regions in mice which was successful.[17] Altering the genetic sequence of mammals has also been widely debated thus creating a difficult FDA regulation standard for these studies.

The lack of clear international regulation has lead to researchers across the globe attempting to create an international framework of ethical guidelines. Current framework lacks the requisite treaties among nations to create a mechanism for international enforcement. At the first International Summit on Human Gene Editing in December 2015 the collaboration of scientists issued the first international guidelines on genetic research.[18] These guidelines allow for the pre-clinical research into the editing of genetic sequences in human cells granted the embryos are not used to implant pregnancy. Genetic alteration of somatic cells for therapeutic proposes was also considered an ethnically acceptable field of research in part due to the lack of ability of somatic cells to transfer genetic material to subsequent generations. However citing the lack of social consensus, and the risk of inaccurate gene editing the conference called for restraint on any germline modifications on implanted embryos intended for pregnancy.

With the international outcry in response to the first recorded case of human germ line edited embryos being implanted by researcher He Jiankui, scientists have continued discussion on the best possible mechanism for enforcement of an international framework. On March 13th 2019 researchers Eric Lander, Franoise Baylis, Feng Zhang, Emmanuelle Charpentier, Paul Bergfrom along with others across the globe published a call for a framework that does not foreclose any outcome but includes a voluntary pledge by nations along with a coordinating body to monitor the application of pledged nations in a moratorium on human germline editing with an attempt to reach social consensus before moving forward into further research.[19] The World Health Organization announced on December 18th 2018 plans to convene an intentional committee on clinical germline editing.[20]

As it stands, there is much controversy surrounding human germline engineering. Editing the genes of human embryos is very different, and raises great social and ethical concerns. The scientific community, and global community, are quite divided regarding whether or not human germline engineering should be practiced or not. It is currently banned in many of the leading, developed countries, and highly regulated in the others due to ethical issues.[21] The large debate lies in the possibility of eugenics if human germline engineering were to be practiced clinically. This topic is hotly debated because the side opposing human germline modification believes that it will be used to create humans with "perfect", or "desirable" traits.[21][22][23][24][25] Those in favor of human germline modification see it as a potential medical tool, or a medical cure for certain diseases that lie within the genetic code.[22] There is a debate as to if this is morally acceptable as well. Such debate ranges from the ethical obligation to use safe and efficient technology to prevent disease to seeing actual benefit in genetic disabilities.[26] While typically there is a clash between religion and science, the topic of human germline engineering has shown some unity between the two fields. Several religious positions have been published with regards to human germline engineering. According to them, many see germline modification as being more moral than the alternative, which would be either discarding of the embryo, or birth of a diseased human.[22][24][25] The main conditions when it comes to whether or not it is morally and ethically acceptable lie within the intent of the modification, and the conditions in which the engineering is done.

The process of modifying the human genome has raised ethical questions. One of the issues is off target effects, large genomes may contain identical or homologous DNA sequences, and the enzyme complex CRISPR/Cas9 may unintentionally cleave these DNA sequences causing mutations that may lead to cell death.[27]

Another very interesting point on the debate of whether or not it is ethical and moral to engineer the human germline is a perspective of looking at past technologies and how they have evolved. Dr. Gregory Stock discusses the use of several diagnostic tests used to monitor current pregnancies and several diagnostic tests that can be done to determine the health of embryos.[23] Such tests include amniocentesis, ultrasounds, and other preimplantation genetic diagnostic tests. These tests are quite common, and reliable, as we talk about them today; however, in the past when they were first introduced, they too were scrutinized.[23]

One of the main arguments against human germline engineering lies in the ethical feeling that it will dehumanize children. At an extreme, parents may be able to completely design their own child, and there is a fear that this will transform children into objects, rather than human beings.[23][24][25] There is also a large opposition as people state that by engineering the human germline, there is an attempt at "playing God", and there is a strong opposition to this. One final, and very possible issue that causes a strong opposition of this technology is one that lies within the scientific community itself. Inevitably, this technology would be used for enhancements to the genome, which would likely cause many more to use these same enhancements. By doing this, the genetic diversity of the human race and the human gene pool as we know it would slowly and surely diminish.[23] Despite the controversy surrounding the topic of human germline engineering, it is slowly and very carefully making its way into many labs around the world. These experiments are highly regulated, and they do not include the use of viable human embryos, which allows scientists to refine the techniques, without posing a threat to any real human beings.[23]

The creation of genetically modified humans may have been performed in the mid-1990s, in which a 1997 study published in The Lancet claimed, the first case of human germ-line genetic modification resulting in normal healthy children..[28][29] In November 2018, researcher Jiankui He claimed that he had created the first human genetically edited babies, known by their pseudonyms, Lulu (Chinese: ) and Nana (Chinese: ).[5][6] Researcher Alcino J. Silva has discovered an impact the CCR5 gene has has on the memory function the brain.[30] Silva speculates the brain function of Lulu and Nana likely has been impacted but that the exact consequences of the edit are impossible to predict. Studies have sh
own mice who have had the CCR5 gene have shown a marked improvement in the function of their memory and brain recovery after stroke.

The first known publication of research into human germline editing was by a group of Chinese scientists in April 2015 in the Journal "Protein and Cell".[31] The scientists used tripronuclear (3PN) zygotes, zygotes fertilized by two sperm and therefore non-viable, to investigate CRISPR/Cas9-mediated gene editing in human cells, something that had never been attempted before. The scientists found that while CRISPR/Cas9 could effectively cleave the -globin gene (HBB), the efficiency of homologous recombination directed repair of HBB was highly inefficient and did not do so in a majority of the trials. Problems arose such as off target cleavage and the competitive recombination of the endogenous delta-globin with the HBB lead to unexpected mutation. The results of the study indicated that repair of HBB in the embryos occurred preferentially through alternative pathways. In the end only 4 of the 54 zygotes carried the intended genetic information, and even then the successfully edited embryos were mosaics containing the preferential genetic code and the mutation. The conclusion of the scientists was that further effort was needed in to improve the precision and efficiency of CRISPER/Cas9 gene editing.

In March 2017 a group of Chinese scientists claimed to have edited three normal viable human embryos out of six total in the experiment.[32] The study showed that CRISPR/Cas9 is could effectively be used as a gene-editing tool in human 2PN zygotes, which could lead potentially pregnancy viable if implanted. The scientists used injection of Cas9 protein complexed with the relevant sgRNAs and homology donors into human embryos. The scientists found homologous recombination-mediated alteration in HBB and G6PD. The scientists also noted the limitations of their study and called for further research.

In August 2017 a group of scientists from Oregon published an article in "Nature" journal detailing the successful use of CRISPR to edit out a mutation responsible for congenital heart disease.[33] The study looked at heterozygous MYBPC3 mutation in human embryos. The study claimed precise CRISPR/Cas9 and homology-directed repair response with high accuracy and percision. Double-strand breaks at the mutant paternal allele were repaired using the homologous wild-type gene. By modifying the cell cycle stage at which the DSB was induced, they were able to avoid mosaicism, which had been seen in earlier similar studies, in cleaving embryos and achieve a large percentage of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of unintended mutations. The scientists concluded that the technique may be used for the correction of mutations in human embryos. The claims of this study were however pushed back on by critics who argued the evidence was overall unpersuasive.

In June 2018 a group of scientists published and article in "Nature" journal indicating a potential link for edited cells having increased potential turn cancerous.[34] The scientists reported that genome editing by CRISPR/Cas9 induced DNA damage response and the cell cycle stopped. The study was conducted in human retinal pigment epithelial cells, and the use of CRISPR lead to a selection against cells with a functional p53 pathway. The conclusion of the study would suggest that p53 inhibition might increase efficiency of human germline editing and that p53 function would need to be watched when developing CRISPR/Cas9 based therapy.

In November 2018 a group of Chinese scientists published research in the journal "Molecular Therapy" detailing their use of CRISPR-Cas9 technology to correct a single mistaken amino acid successfully in 16 out of 18 attempts in a human embryo.[35] The unusual level of precision was achieved by the use of a base editor (BE) system which was constructed by fusing the deaminase to the dCas9 protein. The BE system efficiently edits the targeted C to T or G to A without the use of a donor and without DBS formation. The study focused on the FBN1 mutation that is causative for Marfan syndrome. The study provides proof positive for the corrective value of gene therapy for the FBN1 mutation in both somatic cells and germline cells. The study is noted for its relative precision which is a departure from past results of CRISPER-Cas9 studies.

The most controversial research to date has been the work of He Jiankui who presented his research at Second International Summit on Human Genome Editing in November 2018.[36] Jianku claimed to have implanted embryos that were successfully modified with a mutation in the CCR5 gene with the intent of preventing HIV transmission. The result of his experiment was the birth of two female children code named Lulu and Nana. The reaction against the announcement was swift and met with widespread international denunciation. Further details of Jianku's research have yet to be published aside from what was announced at the summit. Since the reveal of the research Jiankui's position at Southern University of Science and Technology has been terminated and he has been under a state of house arrest for his work and may even face the death penalty.[37]

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Human germline engineering - Wikipedia

Young scientists call on Greens to rethink GM stance in the cause of the climate – The Spinoff

An open letter signed by more than 150 New Zealanders under 30 who specialise in biological or environmental science says the current law hinders efforts to tackle the climate crisis, and urges the Greens to change their position and take a lead on reform.

A group of more than 150 young New Zealand scientists has laid down a challenge to the Green Party to revisit its position on genetic modification.

In an open letter, the signatories urge Green Party members and MPs to take a lead in overhauling strict legislation, enacted 16 years ago, that regulates GM research. To do so is urgent, they argue, in light of the climate crisis.

Climate change is one of the greatest crises in human history, and our current law severely restricts the development of technologies that could make a vital difference, reads the letter.

GM based study in New Zealand was bridled by one of the toughest regulatory environments in the world for this field of research, they write. We believe that GM based research could be decisive in our efforts to reduce New Zealand and global climate emissions as well as partially mitigating some of the impacts of climate change.

The letter read it in full here is signed 155 people under 30 who either have or are studying for a PhD or Masters degree in biological or environmental science. It pokes a stick at a potential hornets nest for the Green Party, pitching members who are staunchly opposed to genetic engineering against the more resolutely evidence-based camp keen to see science deployed in the fight against climate change.

The Greens had been targeted, according to the open letter, because of a history of leading in science based policy such as climate action, even when that path is difficult.

Responding to the letter, the Greens spokesperson for science and technology, Gareth Hughes, said: Were comfortable with keeping GE in the lab but were always open to a facts-based public conversation about GE.

Green Party policy calls for keeping genetic research organisms completely contained in a secure indoor laboratory and prohibiting genetically modified and transgenic organisms that are intended for release into the environment or food chain.

The signatories say that the existing 2003 law is a handbrake on GM related research in areas including agricultural efficiency, carbon capture, and the production of alternative proteins.

The existing regulation in New Zealand inhibits application of advances such as these, blocking not only the development of green technology, but the potential for a just transition away from extractive and polluting industries. New Zealand has the opportunity to be a world leader in such a transition: for example, the development and demonstration of effective technologies to reduce agricultural emissions could have an international impact and set an example for other countries.

The letter notes that among those calling for a public discussion around reforms to genetic modification laws are the expert panel on gene editing set up by the Royal Society Te Aprangi, which reported back in August, the prime ministers chief science advisor, and the interim climate change committee.

The Greens have been strong advocates of both climate action and evidence based policy informed by science, concludes the letter.

In this light we call upon its members, supporters, ministers, and MPs to add their voices to the cause of a science-based approach to climate, on behalf of the people and environment of both Aotearoa and the world.

Approached for comment, the Green Party leadership directed questions to science and technology spokesperson Gareth Hughes.

We acknowledge the letter and appreciate the message, Hughes told The Spinoff in an email.

Were comfortable with keeping GE in the lab but were always open to a facts-based public conversation about GE to ensure our environment and species are protected and consumers are safe and informed.

Hughes noted that the prime ministers chief science adviser, Juliet Gerrard, had recently pointed out that GE regulation isnt just a scientific question, it has ethical and economic dimensions too. Risks to New Zealands fast-growing organics sector and national agricultural reputation need to be considered.

Gerrard has also said, however, that New Zealands existing law on genetic engineering is not fit for purpose. Speaking to the Spinoff shortly after her appointment, she said: The act was written before the technologies were discussing were even invented. So I think what we need to do is have a calm look at sorting out the language and the legal and regulatory framework.

Her predecessor as PMs science adviser, Sir Peter Gluckman, has gone further, saying, If our country does not periodically consider how to use or not use evolving technologies, we run the risk of becoming a backwater with a declining competitive position. We must to find a way to have ongoing conversations about fast moving and evolving technologies; burying our heads in the sands of short-termism can have serious long-term costs.

An expert panel, cited by the letter writers, set up by Royal Society Te Aprangi to consider implications of new technologies which allow more controlled and precise gene editing, called for an overhaul of the regulations and an urgent need for wide discussion and debate about gene editing within and across all New Zealand communities.

Hughes added: There are emissions reduction practices available right now without needing hypothetical, future GE-based technologies. We believe regenerative and organic agriculture is a better future for New Zealand and our environment.

Green Party policies are developed by our members and any change would have to come from the membership.

The strength of divergent views within the Greens bubbled to the surface last week, when a member went public over a rejected op-ed submission to the party magazine, Te Awa.

In the proposed piece, which he provided to the NZ Herald, GE opponent and non-toxic pesticide developer Chris Henry had called for the resignation of James Shaw, writing: We simply cannot have someone weak on the issue leading the political side.

He had been motivated by an appearance by Shaw on Q&A, in which the Greens co-leader said he would be led by the science in assessing the arguments for GM technology in reducing methane emissions in agriculture.

The editor of the magazine, which is independent from the party caucus, told Henry: Your piece conflicts with many of our principles and values when it asks for James resignation. The Green Partys non-violence and appropriate decision-making principles preclude me from publishing your article. You have chosen a confrontational and violent approach to getting attention to your concerns.

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Young scientists call on Greens to rethink GM stance in the cause of the climate - The Spinoff

Human Genetic Modification | Center for Genetics and Society

Human genetic modification is the direct manipulation of the genome using molecular engineering techniques. Recently developed techniques for modifying genes are often called gene editing. Genetic modification can be applied in two very different ways: somatic genetic modification and germline genetic modification.

Somatic genetic modification adds, cuts, or changes the genes in some of the cells of an existing person, typically to alleviate a medical condition. These gene therapy techniques are approaching clinical practice, but only for a few conditions, and at a very high cost.

Germline genetic modification would change the genes in eggs, sperm, or early embryos. Often referred to as inheritable genetic modification or gene editing for reproduction, these alterations would appear in every cell of the person who developed from that gamete or embryo, and also in all subsequent generations. Germline modification has not been tried in humans, but it would be, by far, the most consequential type of genetic modification. If used for enhancement purposes, it could open the door to a new market-based form of eugenics. Human germline modification has been prohibited by law in more than 40 countries, and by a binding international treaty of the Council of Europe.

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Human Genetic Modification | Center for Genetics and Society