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Category Archives: Transhuman News
Worse than death: The far-future dystopia of genome hacking – The Outline
Posted: August 3, 2017 at 9:51 am
John Sotos, the Chief Medical Officer at Intel, has a wild, scary thought experiment: What if, by investing in hacking the human genome for good, weve opened it up to be hacked for evil?
Sotos gave a talk this weekend at the DEF CON hacker convention in Las Vegas titled, in full, Genetic Diseases to Guide Digital Hacks of the Human Genome: How the Cancer Moonshot Program will Enable Almost Anyone to Crash the Operating System that Runs You or to End Civilization.
Sotos, whose employer allowed him to give the talk but not to do interviews about it, believes that it may one day be possible to create terrifying bioweapons using genetics. He hypothesized several attacks that could be devastating if the capability to execute them fell into the hands of adversaries, especially ideological ones. They ranged from targeted pandemics, meaning viruses that only affect people with a certain gene, to altering sexual preferences.
These attacks could become possible thanks to the Human Genome Project, a government-funded effort to map all the genes in human DNA, and the Cancer Moonshot, another government program that is investing in precision medicine as well as emerging DNA and RNA technologies.
Sotos is assuming that the Cancer Moonshot, a $1.6 billion program authorized in 2016, will succeed in its goals. The ideal cancer treatment would go something like this: biopsy a tumor, tabulate its genetic signature, create a virus that kills cells with that signature, inject it into the patients body. A few days later, the patient is cancer-free.
Imagine such precise gene editing technology is possible, and then imagine that its also possible to use a computer program to simulate and tinker with everything thats going on in the genome another emerging technology called digital biology. Eventually, Sotos believes, it will be possible to digitally reprogram the human genome in a living human.
The problems that arise from these advancements now start to resemble those in the existing information security industry, except that the genome has no protection and the locations of its weaknesses are publicly documented. The human genome is full of potential exploits, Sotos said, using the infosec term for a vulnerability that a hacker can leverage to take over a system. The genome is basically an open-source operating system, he said, full of security vulnerabilities.
In theory, hackers who were militant vegans could induce meat intolerance in others, while hackers who oppose drinking could force alcohol intolerance. Hackers who were interested in, say, controlling women, could induce chastity by creating a hyper-susceptibility to STDs, or extreme sun sensitivity that would force women to wear veils. Hackers could also supercharge pharmaceutical sales by spreading the genes for treatable illness, a way to make money on the stock market (or perhaps, in this dystopian future, the pharma companies will be morally bankrupt enough to do it themselves). Based on what we already know about which genes are located where and cause what, hackers in this thought experiment could induce deafness, blindness, night blindness, strong fishy body odor, total baldness, intractable diarrhea, massive weight gain, shouting involuntary obscenities, physical fragility, or a susceptibility to death from excitement. There are things worse than death, he said.
The talk was riveting, but Sotos started getting pushback immediately from scientists who said it amounted to baseless fear-mongering.
Former U.S. Chief Data Scientist DJ Patil tweeted that the scenarios Sotos posited were a real risk. Creating noise & sounding alarms this way isn't helpful to saving lives, he tweeted. The risk is really small. It's really hard to mass produce these. The real risk we should be focusing on is drug resistant TB and pandemics.
Talks at DEF CON often tend to exaggerate a threat to get attention on a topic. There is widespread agreement that genetic information must be protected, but there isnt much in the way of legislation or market forces that would make that happen. Thought experiments play a role in prompting government to take defensive action, Sotos said.
The Cobra Event, a novel Sotos cited in his talk about a highly contagious brain-pox cooked up by a genetics wizard named Archimedes, reportedly influenced Bill Clinton to start stockpiling antibiotics and training public health authorities to deal with a chemical or biological weapons attack. It would probably be better if we could get forward-looking public policy without having to scare it into politicians, but unfortunately the human brain is hardwired to be reactive at least until we hack it to be otherwise.
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US scientists edit genome of human embryo, but cast doubt on possibility of ‘designer babies’ – STAT
Posted: at 9:51 am
C
reating designer babies with a revolutionary new genome-editing technique would be extremely difficult, according to the first U.S. experiment that tried to replace a disease-causing gene in a viable human embryo.
Partial results of the study hadleaked out last week, ahead of its publication in Nature on Wednesday, stirring critics fears that genes for desired traits from HIV resistance to strong muscles might soon be easily slipped into embryos. In fact, the researchers found the opposite: They were unable to insert a lab-made gene.
Biologist Shoukhrat Mitalipov of Oregon Health and Science University, who led the first-of-its-kind experiment, described the key result as very surprising and dramatic.
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The external DNA provided to fertilized human eggs developing in a lab dish was never used, he told STAT. The scientists excised a mutated, heart-disease-causing gene from the embryos agene thatcame from sperm used to create them through in vitro fertilization and supplied them with a healthy replacement. But every single one of the 112 embryos ignored it. Instead, they copied the healthy gene from their mother and incorporated that into their genome to replace the fathers.
This is the main finding from our study, Mitalipov said: Embryos natural preference for a parents gene is very strong, and they wont use anything else.
The discovery suggests that opportunities for disease prevention are more limited than scientists assumed and that enhancement giving a days-old embryo better genes is unlikely to succeed, at least with current methods. Genetic tinkering can, however, eliminate a bad gene that an embryo got from one parent and replace it with a good gene from the other parent. And the experiment showed for the first time in a large number of embryos that this can be done efficientlyand without harming other genes.
That offers the prospect of preventing inherited diseases such as cystic fibrosis, Huntingtons disease, and some cancers, as long as one parent carries a healthy gene to replace the disease-causing one. (The age-old desire of many couples to choose which parents traits their child inherits could also become a reality, though probably not for years.)
Polls show greater public support for using germline editing changing the DNA of very early embryosto prevent disease than for giving embryos souped-up genes for, say, extraordinary memories or unbreakable bones. Such traits would be passed on to all subsequent generations. Although some studies have identifiedgenes associated with those enhanced traits, they are extraordinarily rare. To bestow the traits on an embryo would require creating the genes in a lab and injecting them the exact thing that failed completely in the new study.
The surprise finding showed that to introduce a novel gene is [an] issue, said Fredrik Lanner, of Karolinska University Hospital in Sweden, who was not involved in the Oregon study. (Lanner received permissionlast year to conduct similar experiments editing the genome of human embryos). More research would be needed to really know how efficiently a new gene version can be introduced.
The discovery that human embryos mighthave natural barriers to accepting introduced DNA something other kinds of human cells, and other animal embryos, have no problem doing offers some assurance that designer babies are not in the offing anytime soon. But critics of editing the human germline were not mollified.
Marcy Darnovsky, executive director of the Center for Genetics and Society, argued that there are other ways for couples to have a biological child free of the known genetic defects carried by one parent or both: Screening the DNA of IVF embryos through a technique called preimplantation genetic diagnosis (PGD) lets parents choose only healthy embryos to implant.
We have to weigh the medical benefit to a few from correcting an embryos mutation against the social risks for all of us, she said, adding that enhancement-type alterations might in fact be possible. I dont see any reason to doubt that Mitalipov or others will pursue other new wrinkles in these procedures, to enable more extensive genetic alterations.
The research hit other hot buttons.Mitalipov (a skilled reproductive biologist known for pushing boundaries) and his colleagues created human embryos. Doing that for research is legal in Oregon and some other states but illegal in others and ardently opposed by many religious groups. And the scientists destroyed them after a few days, which some critics regard as murder. (The researchers had no intention of implanting the altered embryos in a uterus.)
A 1995 law prohibits the use of U.S. funds to create human embryos for research or to destroy them, and the National Institutes of Health bansuse of its grants to edit the genome of human embryos, but this study was funded by private foundations and university funds.
At first glance, the experiment ran according to script. The scientists created embryos by fertilizing (in lab dishes) eggs from a dozen healthy donors with sperm from a man with the mutation that causes the rare heart disorder called hypertrophic cardiomyopathy. At the same time, the scientists injected CRISPR-Cas9.
This revolutionary genome-editing technology typically has three components. A targeting molecule carries the CRISPRcomplex to the target gene within a cell. A molecular scissors snips out the target gene. A healthy gene is supposed to replace the excised one. In experiment after experiment in regular human cells (not embryos), this now-classic use of CRISPR-Cas9 shreds the targeted DNA and the double helix stitches in a replacement like a seamstress darning a sock.
Thats what happened when Mitalipov injected CRISPR into stem cells produced from the man with hypertrophic cardiomyopathy. The incurable disorder strikes about 1 in 500 people, said Dr. Carolyn Yung Ho of Brigham and Womens Hospital in Boston, making the hearts left ventricle abnormally thick; mutations in any of several genes, including one called MYBPC3, can cause it. As expected, CRISPR efficiently snipped out the mutated MYBPC3 gene, and the cells replaced it with the healthy version that was slipped in with the CRISPR complex. We supplied a repair template and the cells used it, Mitalipov said.
The research ethics committee at OHSU, which vets studies, questioned Mitalipovs proposal to next CRISPR embryos.They told me, You have your answer [from the stem cell experiment]; why do you have to do embryos? Mitalipov recalled. I told themI had a hunch that the results might be different. I said, Let me do embryos.
His hunch was right. CRISPR seemed to work like a charm in the embryos. It excised the cardiomyopathy gene in 22 of the 112 embryos, an exceptionally high efficiency for CRISPR. It excised no unintended targets, contrary to what had happened in a CRISPR experiment in China, which got many such off-target effects. And CRISPR worked in all of the cells the embryo eventually divided into, probably because it was injected into the egg at the same time as the sperm.
But the embryos did not insert the healthy, lab-made heart gene in place of the CRISPRd mutated one. The reason is a mystery, but bioengineer Neville Sanjana of the New York Genome Center said, I dont think it is a complete surprise. After all, this is likely how DNA repair evolved in the first place to repair a damaged chromosome by using the other, intact one.
Mitalipov suspects that an embryo responds to CRISPRs snipping out one of its genes by looking up and down and around the genome and somehow recognizing maternal DNA and inserting that in place of the snipped-out paternal gene. If so, then any replacement gene that scientists offer stands little chance of getting accepted.
Chinese researchers reported earlier this year on anexperimentin which they got about 10 percent of CRISPRd human embryos to accept an introduced gene, but it used only a few embryos and had other limitations. The U.S. study suggests that the insert-a-gene recipe for designer babies will be tougher than expected: To introduce a novel gene, said Karolinskas Lanner, you would [have to] target both DNA copies moms and dads with CRISPR. That might be possible, butmore research would be needed to really know how efficiently a new gene version can be introduced.
Even if CRISPRing embryos can only cause a child to inherit a mothers trait and not the fathers, or vice versa, that should be enough to eliminate a disease-causing mutation from an embryo and future generations. The vast majority of patients with a disease-causing mutation have a partner with the [healthy] gene, Mitalipov said. That healthy gene, with an assist from CRISPR, could replace the mutated one in an embryo, giving children only the healthy gene.
Every generation on would carry this repair because weve removed the disease-causing gene variant from that familys lineage, he said.
That would obviate the need to screen IVF embryos to find a mutation-free one to implant. Unwanted embryos are usually destroyed. When the OHSU ethics committee pressed Mitalipov about destroying embryos in his experiment, he had an answer: If CRISPR can eliminate disease-causing mutations from embryos, as he hoped his research would help make possible, Im going to rescue the [IVF] embryos that are now thrown away.
But not soon, and probably not in the United States. Federal law prohibits regulators from even considering a request to launch a clinical trial in which embryos would be genetically altered and implanted in a uterus.
Mitalipov has another hunch, this time about where that will lead: Unfortunately, this technology will just be shifted to unregulated countries.
Senior Writer, Science and Discovery
Sharon covers science and discovery.
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US scientists edit genome of human embryo, but cast doubt on possibility of 'designer babies' - STAT
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Opinion: Human genome editingwe should all have a say – Phys.org – Phys.Org
Posted: at 9:51 am
August 2, 2017 by Franoise Baylis, The Conversation
Mitalipov's team is not the first to genetically modify human embryos. This was first accomplished in 2015 by a group of Chinese scientists led by Junjiu Huang. Mitalipov's team, however, may be the first to demonstrate basic safety and efficacy using the CRISPR technique.
This has serious implications for the ethics debate on human germline modification which involves inserting, deleting or replacing the DNA of human sperm, eggs or embryos to change the genes of future children.
Ethically controversial
Those who support human embryo research will argue that Mitalipov's research to alter human embryos is ethically acceptable because the embryos were not allowed to develop beyond 14 days (the widely accepted international limit on human embryo research) and because the modified embryos were not used to initiate a pregnancy. They will also point to the future potential benefit of correcting defective genes that cause inherited disease.
This research is ethically controversial, however, because it is a clear step on the path to making heritable modifications - genetic changes that can be passed down through subsequent generations.
Beyond safety and efficacy
Internationally, UNESCO has called for a ban on human germline gene editing. And the "Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine" the Oviedo Convention specifies that "an intervention seeking to modify the human genome may only be undertaken for preventive, diagnostic or therapeutic purposes and only if its aim is not to introduce any modification in the genome of any descendants."
In a move away from the positions taken by UNESCO and included in the Oviedo Convention, in 2015 the 12-person Organizing Committee of the first International Summit on Human Gene Editing (of which I was a member) issued a statement endorsing basic and preclinical gene editing research involving human embryos.
The statement further stipulated, however, that: "It would be irresponsible to proceed with any clinical use of germline editing unless and until (i) the relevant safety and efficacy issues have been resolved, based on appropriate understanding and balancing of risks, potential benefits, and alternatives, and (ii) there is broad societal consensus about the appropriateness of the proposed application."
Mitalipov's research aims to address the first condition about safety and efficacy. But what of the second condition which effectively recognizes that the human genome belongs to all of us and that it is not for scientists or other elites to decree what should or should not happen to it?
Modification endorsed
Since the 2015 statement was issued, many individuals and groups have tried to set aside the recommendation calling for a broad societal consensus.
For example, in February 2017, the U.S. National Academy of Sciences and National Academy of Medicine published a report endorsing germline modification. It states unequivocally that "clinical trials using heritable germline genome editing should be permitted" provided the research is only for compelling reasons and under strict oversight limiting uses of the technology to specified criteria.
Seeds of change in Canada
In Canada, it is illegal to modify human germ cells. Altering "the genome of a cell of a human being or in vitro embryo such that the alteration is capable of being transmitted to descendants" is among the activities prohibited in the 2004 Assisted Human Reproduction Act.
Worried that "Canadian researchers may fall behind on the international scene" and that "restrictive research policies may lead to medical tourism," the Canadian Institutes for Health Research (with input from the Canadian Stem Cell Network) has begun to plant the seeds of change.
In its Human Germline Gene Editing report, CIHR hints at the benefits of changing the legislation. It also suggests professional self-regulation and research funding guidelines could replace the current federal statutory prohibition.
Future of the species
With the recent announcement of Mitalipov's technological advances and increasing suggestions from researchers that heritable modifications to human embryos be permitted, it is essential that citizens be given opportunities to think through the ethical issues and to work towards broad societal consensus.
We are talking about nothing less than the future of the human species. No decisions about the modification of the germline should be made without broad societal consultation.
Nothing about us without us!
Explore further: Genome editing in human cells
This article was originally published on The Conversation. Read the original article.
New techniques in molecular biology that enable targeted interventions in the genome are opening up promising new possibilities for research and application. The ethical and legal ramifications of these methods, known as ...
Recent evidence demonstrating the feasibility of using novel CRISPR/Cas9 gene editing technology to make targeted changes in the DNA of human embryos is forcing researchers, clinicians, and ethicists to revisit the highly ...
Human cells or embryos that undergo a process of gene-editing must not be used to establish a pregnancy, an international scientific panel said Thursday, urging strict limits on the controversial research.
The announcement by researchers in Portland, Oregon that they've successfully modified the genetic material of a human embryo took some people by surprise.
Clinical trials for genome editing of the human germline - adding, removing, or replacing DNA base pairs in gametes or early embryos - could be permitted in the future, but only for serious conditions under stringent oversight, ...
A team of researchers has created the first genetically modified human embryos, the MIT Technology Review reported this week.
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Now I can see this research as far as understanding EXACTLY how to make those changes in case of some unforeseen global emergency/need in the future.
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Opinion: Human genome editingwe should all have a say - Phys.org - Phys.Org
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Healthcare Disrupter VIOME Raises $15 Million In Series A Funding … – Markets Insider
Posted: at 9:50 am
NEW YORK, Aug. 2, 2017 /PRNewswire/ --VIOME, the AI powered wellness service providing unprecedented insights into your personal health, has raised $15 million in Series A funding to support the launch of its at-home health kit, specifically targeting the Microbiome. VIOME is currently operating as an early beta program with several thousand customers actively using the product. Interested customers can sign up today as the company plans to announce wide availability in the US, UK, Canada, India and Middle East starting in September.
The new round brings VIOME's total funding to $21 Million led by Khosla Ventures with participation from Bold Capital Partners. Khosla Ventures, led by managing partner Vinod Khosla, will receive one seat on the VIOME board.
"VIOME is a transformationalhealthcarecompany with a team that comprises decades of experience across AI, health and science, and a singular mission of keeping people healthy," says Vinod Khosla. "By investing in VIOME, we're investing in a future where preventable illnesses are a thing of the past."
VIOME uses state-of-the-art proprietary technology licensed exclusively through its partnership with the prestigious Los Alamos National Laboratory. Its services offer unparalleled visibility into the ecosystem of the body to create unique molecular profiles for its subscribers. VIOME identifies and quantifies all microorganisms in the gut, but more importantly, analyzes what they are actually doing. By applying machine learning to this analysis, VIOME then makes personalized nutritional recommendations to balance the gut microbiome and ecosystem inside the body.
These results offer complete transparency into your own health and the nutrition you need to prevent many of today's chronic illnesses. With this insight, illness can become a choice - a matter of your own decisions.
"Los Alamos National Laboratory has exclusively licensed our advanced transcriptome technology to Viome which allows rapid identification of micro-organisms and their metabolic activities," says Duncan McBranch, Chief Technology Officer at Los Alamos National Laboratory. "This technology was originally developed by leading scientists at the lab to address our national security challenges, and with VIOME's focus on personalized healthcare, it can be used to maintain good health and to prevent chronic disease."
With 45 employees located in Cupertino, Los Alamos, and New York, VIOME was founded by a group of leading entrepreneurs in science and technology. This includes innovator, philanthropist and founder of Moon Express, Intelius, TalentWise and InfoSpace, Naveen Jain.
"Modern healthcare is really symptom-care. It puts the needs of the system hospitals and insurance companies, above the patient," says Jain, who serves as CEO. "With VIOME, we're allowing people to reclaim control of their health so that chronic illness can become a choice rather than just a matter of bad luck."
Building an expert team, VIOME's leadership includes Chief Technology Officer Guruduth Banavar, who led the creation of Watson AI technologies at IBM, before joining VIOME to apply these technologies to enhance human wellness.
Chief Science Officer Momo Vuyisich brings more than 25 years of R&D experience in many scientific disciplines. He was most recently a scientist and leader of the Applied Genomics team at Los Alamos National Laboratory. Chief Medical Officer Helen Messier is a national leader in personalized "omics"-based medical care, previously serving as medical director, Genomics at Human Longevity, Inc.
VIOME also counts Mark Hyman (Cleveland Clinic Center for Functional Medicine), Dave Asprey (Founder of Bulletproof), Aubrey De Grey (Biomedical Gerontologist), Dallas Hartwig (New York Times Best-Selling Author), and Dr. Tom O'Bryan (Founder of theDr.com) as ambassadors.
Receiving 365 days of wellness a year from VIOME, people are empowered to achieve their goals and live a more informed, healthy and happy life. Learn more atVIOME.com.
Media ContactFactory PR // rel="nofollow">viome@factorypr.com
About VIOMEVIOME is a wellness service that applies artificial intelligence to complex biological data to provide personalized diet, nutrition and lifestyle recommendations for healthy living.
VIOME tailors its service to evaluate and pinpoint potential issues in the body related to the Microbiome, which tunes our immune system, keeps us under control and reduces inflammation. VIOME specifically targets the bacteria, viruses, yeast, fungus and mold in our system that works symbiotically with the body to provide the nutrition needed to feel energetic and stay healthy.
About Naveen JainNaveen Jain is an entrepreneur and philanthropist driven to solve the world's biggest challenges and epidemics through innovation. To date, he has founded several companies revolutionizing the science, technology and medicine arenas. They include Moon Express, BlueDot, VIOME, Intelius, Talent Wise and InfoSpace.
Naveen is a trustee of the board at the XPRIZE Foundation where he recently launched a million-dollar Women Safety XPRIZE to empower women around the world. In addition, Naveen is also on the board of Singularity University and has been awarded many honors for his accomplishments and entrepreneurial successes.
About KhoslaKhosla Ventures provides venture assistance and strategic advice to entrepreneurs working on breakthrough technologies. The firm was founded in 2004 by Vinod Khosla, co-founder of Sun Microsystems. With over four billion dollars under management, the firm focuses on a broad range of areas including consumer, enterprise, education, advertising, financial services, semiconductors, health, big data, agriculture/food, sustainable energy and robotics. Khosla Ventures is headquartered in Menlo Park, Calif.
About BOLD Capital PartnersBOLD Capital Partners ("BOLD"), is a venture capital firm targeting investments in early stage and growth technology companies. BOLD is particularly interested in entrepreneurial leaders that leverage exponential technologies to transform the world and create innovative solutions to humanities' grand challenges. The investment platform leverages the resources of Singularity University (www.su.org) and the Peter Diamandis ecosystem (www.diamandis.com) to actively seek and support world-class entrepreneurs. BOLD has offices in Santa Monica and Palo Alto, California.
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Healthcare Disrupter VIOME Raises $15 Million In Series A Funding ... - Markets Insider
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24 People in Phase 1 Trial Focusing on Psoriasis Have Received KY1005, Which Is Also an MS Therapy – Multiple Sclerosis News Today
Posted: at 9:48 am
Twenty-four people have now received the multiple sclerosis and psoriasis therapy KY1005 in a Phase 1 clinical trial, according to its developer,Kymab.
The Cambridge, England, company createshuman antibody drugs for autoimmune diseases. The trial will focus on KY1005 as a psoriasis therapy, although its mechanism of action should work in MS as well, Kymab said.
KY1005 is the first of a series of products we are developing focused on autoimmune diseases, immune-oncology, hematology and infectious disease, Dr. David Chiswell, Kymabs CEO, said in a press release.
Our vision is to build Kymab into a major global biopharmaceutical company, he said. This, the first of what will be a steady stream of clinical trials, is an important step towards realizing our vision. Indeed, the potential of KY1005 is such that, on its own, it could treat a number of immune and inflammatory disorders. We are confident that this will be the first of several trials on this antibody alone.
KY1005 prevents a protein known as the OX40-Ligand from activating the protein it binds to, OX40. When activated, OX40 triggers the proliferation of memory and effector T lymphocytes, cells that regulate immune system responses.
OX40 plays a crucial role in the development of MS, studies in mice have shown.KY1005 blocks OX40L, allowing OX40 to rebalance the immune system and prevent autoimmune responses.
I am delighted that we have reached another important milestone for Kymab, said Professor Allan Bradley, a Kymab co-founder. Since the companys founding only seven years ago, we have generated a number of best-in-class drug candidates using our exquisite antibody platform, he said. Kymabs platform contains the entire repertoire of human antibodies, making it the most comprehensive antibody development platform available.
To now have our first antibody firmly on its clinical [trial] development pathway, with a rich pipeline of future products following, is a significant milestone and a testament to the unique qualities of the antibody drugs produced by ourproprietary antibody platform as well as the performance of the Kymab team in progressing them rapidly through development, he said.
The Phase 1 trial (NCT03161288) will evaluate the effects of single and multiple ascending doses of KY1005 versus a placebo in healthy volunteers and people with a mild-to-moderate psoriasis, an autoimmune diseasecharacterized by patches of abnormal skin.
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Groundbreaking study demonstrates promise and controversy of gene editing in embryos – ABC News
Posted: at 9:48 am
In a groundbreaking experiment, an international team of scientists on Wednesday officially reported the successful elimination of a genetic disease from human embryos.
Its potentially a huge step for medicine -- but also a controversial one. While these embryos, which a team led by researchers at the Oregon Health and Science University edited using a novel gene-editing procedure known as CRISPR-Cas9, were destroyed rather than implanted into a womb, some say this type of genetic manipulation opens the door to other possibilities in human engineering.
Below are answers to some of the common questions about this research.
In short, this experiment showed that it is potentially possible to correct a genetic disease in an embryo with a high chance of success. In order to show this, the researchers created human embryos designed to have a specific genetic mutation responsible for a type of heart disease known as hypertrophic cardiomyopathy. This genetic disease, which occurs in one out of 500 people, can cause sudden death, as well as a host of other cardiac problems such as heart failure and arrhythmias.
Using a technique known as CRISPR-Cas9, the scientists were able to target the faulty genes as the cells in the embryo divided -- swapping them out for a properly functioning form of the gene. What was novel about this study is that researchers were able to nudge the embryo to use its own native machinery to perform the repair with a high degree of efficiency using a correct form of the gene already present in the cell. In this particular experiment, the researchers used CRISPR-Cas9 on 58 embryos containing the mutation. After the procedure, they found that the mutation was corrected in 42 embryos -- a success rate of 72 percent.
If a feat similar to that seen in this experiment could be achieved in an afflicted embryo that was allowed to develop into a person, it would prevent the condition in this individual -- and it would also prevent their future sons and daughters from inheriting this condition as well.
Moreover, there are thousands of genetic diseases, ranging from cystic fibrosis to sickle cell anemia, for which such a procedure could be relevant. Tests currently exist to diagnose many diseases prior to birth; however, at this time there is no therapy in use that actually alters the DNA of embryos prior to birth. Of course, the use of such a technique would inevitably raise the prospect of exerting all kinds of control over human reproduction -- as well as a host of new ethical questions.
Its not likely, at least for now. Currently, the U.S. Food and Drug Administration is barred from reviewing investigational medical studies involving editing of human embryos -- something which would be required in order to proceed with moving this research into practice. Additionally, the National Institutes of Health, which is an important source of science research funding in the United States, will not financially support research on gene editing of embryos. The research in this study was not supported by funding from the National Institutes of Health.
Right now, it is unclear. Importantly, even though this experiment was considered to be successful, it is not known how this method would perform in other cases -- for example, a case in which both copies of the gene were mutated rather than just one, which was the case in this experiment. Also, since the scientists destroyed these embryos at a very early stage of development, it is not possible to tell for sure how viable these embryos would actually have been in the long run, or whether there would have been any unforeseen complications with their development.
But along with these scientific questions are also big ethical questions -- ones that will only be answered as scientists, ethicists and the public reflect further on this groundbreaking step.
Will Garneau, M.D., is an internal medicine resident at the Johns Hopkins Hospital.
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Ben-Gurion University scholars uncover the secret to personalized medicine – The Jerusalem Post
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The secret to healing what ails you lies within your own DNA. (photo credit:DREAMSTIME)
Israeli genetic researchers have opened the door to new avenues of medical innovation with their research into the role that RNA plays in gene regulation.
Genomes, a complete set of genes, are divided into two categories: coding DNA and noncoding DNA (known as RNA). Dr. Ramon Birnbaum, co-founder of Ben-Gurion University of the Negevs Center for Evolutionary Genomics and Medicine (EGM), had long been fascinated with the latter. His pioneering research found that noncoding DNA, once labeled junk, plays an essential role in gene regulation.
His research focuses on understanding gene regulation during the brains development and specifically in early onset epilepsy. He explains why diagnosis and treatment can be difficult in infants: The symptoms can look the same, but the causes can be very different. Diving into the mechanisms that cause genes to express or not express will lead to more accurate diagnoses and avoid inefficient or even damaging medication."
Dr. Barak Rotblat, a member of the EGM Center, focuses on how genes affect cancer cells. He explains the potential for personalized medicine treating cancer patients. You can take a biopsy, see the specific tumor, know which genes are highly expressed, and which promote the cancers growth. You then create a cocktail to hit the tumor cells of the individual patient.
Meanwhile, Dr. Debbie Toiber, also of the EGM Center and Department of Life Sciences, is taking the RNA research in another direction. Her focus is on how mapping DNA can improve health and potentially increase lifespans.
DNA damage is one of the major causes of aging and age-related diseases, she explains. Most of the damage is repaired, but not everything. So as we age the DNA damage accumulates. With the accumulated damage, cells and neurons die, and organs become debilitated, causing the body to be more susceptible to disease and aging disorders.
Damage to the body is inevitable on some level by simply living, with the environment causing additional damage. While lifestyle plays a major role in the bodys ability to repair DNA damage on its own, genetic makeup contributes as well.
For example, if someone has an inherited gene mutation, it could limit his or her bodys ability to repair itself, leaving the individual prone to immune system damage, cancer, neurodegeneration, and premature aging. By looking into a persons genetic makeup, researchers are opening the door to personalized medicine, designed to uniquely address an individuals needs.
As Israeli researchers move forward with their studies, we come closer to gaining a deeper understanding of the human genome and providing the right personalized treatment for a myriad of medical conditions, from birth to old age and everything in between.
Making lives better in the Negev, in Israel and around the world, Ben-Gurion University of the Negev inter-disciplinary research and applied science teams are shaping the world of tomorrow with groundbreaking innovation. Sign up for eIMPACT newsletter to learn about the latest innovations as they happen.
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Kalter: Gene-editing brings hope – Boston Herald
Posted: at 9:48 am
Scientists were able to wipe out a genetic mutation that causes a potentially fatal heart defect using a controversial gene-editing method, and geneticists say it likely will become a crucial part of the fight against hereditary diseases.
Therell be a lot of people concerned about downstream effects and ethical questions, but ultimately, I think this will join the palette of tools that clinicians have to prevent and manage disease, said Brigham and Womens geneticist Dr. Robert Green. And I think its going to be a fantastic addition.
Scientists at the Oregon Health & Science University rid embryos created specifically for research of a harmful gene using a tool called CRISPR which can act like miniature scissors to snip components of DNA.
The gene that was targeted causes hypertrophic cardiomyopathy, a condition that causes heart muscles to harden and can lead to sudden cardiac arrest, especially among young athletes.
About one in 500 adults are known to suffer from the condition.
There is a 50-50 chance of passing on the mutation for a parent who carries one abnormal copy of the MYBPC3 gene.
This is going to open up a whole new arena of joint decision-making with families and clinicians, Green said. There will have to be some guidelines in place, and within those guidelines, people will have to make personal decisions about choosing the trade-off on risk.
One of those potential risks is off-target genetic sequences, which is when normal cells are unintentionally affected by the gene-editing, which researchers in this study did not report as a major problem, according to the paper published yesterday in the journal Nature.
But scientists arent even sure exactly what the repercussions of those risks would be though Green said creating unintended mutations for other diseases would be among the suspected possibilities.
The National Academies of Science, Engineering and Medicine recently cautioned scientists to explore germ-line editing for conditions without reasonable alternatives.
Hypertrophic cardiomyopathy, despite its potentially fatal consequences, does have sufficient treatment options, said Massachusetts General Hospital cardiologist Dr. Jason Wasfy. Implantable defibrillators that deliver shocks to the heart are most often used to treat the condition.
Its actually not that common in fatalities, Wasfy said. I think for this particular disease, there are pretty good ways of treating patients.
He added that the offending gene cannot be identified in roughly half the patients.
Its very difficult for us to know which patients are at high risk, he said. But, he added, The patients at risk, when we know which gene is involved, this has the potential to have a meaningful impact on their lives.
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Medicine Is Getting More Precise For White People – FiveThirtyEight
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Aug. 2, 2017 at 12:34 PM
Every human on earth is unique our genes are different, we eat different things, we live in different places. As a result, medical treatments tend to work differently on different people. Depending on your genes, a drug might cure your sickness or it might cause a side effect that makes you sicker.
In the past, many of humanitys individual variations were invisible to us, but today, new technology offers us a way to peer into each persons genome, allowing doctors to personalize treatments for each patient. This approach, called precision medicine, has been a major focus of research and investment in the last few years.
But precision medicine only works if scientists have studied people who are similar to you. If your genes are rare or unusual compared to those researchers have examined in the past, you could end up getting the wrong treatment. Since the vast majority of genetics studies are done on people of European ancestry, members of other racial groups may lose out on the benefits of precision medicine entirely. Those same groups already often receive worse health care in the United States than people of European descent get, and personalized medical treatment could make the gap in care larger.
Precision medicine is based on the idea that genes can be linked to diseases. To study this, scientists assemble a group of people, some with a disease and some without, and identify their genetic differences. If particular differences are common among the people who have the disease and absent from the people without it, then scientists can infer that those genetic patterns might be involved in the disease.
But each person has their own catalogue of genetic characteristics. Some are common in people of certain ancestral backgrounds and rare in those from other backgrounds. If scientists exclusively study individuals of one ethnic group, they may not know how to refine their treatments for a person from a different group.
A 2009 analysis of the studies that can link a genetic variant to a disease or trait showed that fully 96 percent of participants were of European descent. In a 2016 commentary in the journal Nature, Alice Popejoy and Stephanie Fullerton, respectively a graduate student and a professor at the University of Washington, showed that these studies had grown more diverse and people of European ancestry now account for 81 percent of research subjects. Things are getting better, and its still pretty darn slow, Fullerton said in an interview. And of the progress that has been made, much of it is attributable not to an increase in diversity in U.S. research but to studies conducted in Asian countries, which involve local participants.
Disparities in biomedical research exacerbate an existing gap in U.S. health care. African-Americans and Latinos are less likely to have health insurance and more likely to suffer from chronic diseases. Even controlling for wealth differences between populations, African-Americans receive worse health care.
The science underlying precision medicine threatens to make these disparities worse because it could leave any genetic differences that primarily affect nonwhite groups unstudied. Some genetic differences are prevalent in one population and rare in another. A prominent example is a gene called APOL1. Differences in this gene are common in people whose ancestors are from sub-Saharan Africa but rare in those of other backgrounds. Some of these variations increase the risk of developing kidney disease more than sevenfold, but they also seem to confer protection against African sleeping sickness. Knowing a patients APOL1 genetic makeup might be useful for guiding kidney disease treatment, and APOL1 is likely one of many genes that must be studied within a nonwhite population.
Its possible to solve the problem of underrepresentation. The National Institutes of Health fund a number of large-scale genetic research projects in the United States, and scientists there consider this a major issue. We are aware of this situation, and work is being funded to rectify the situation, said Charles Rotimi, an investigator at NIH. He pointed to initiatives like Human Heredity and Health in Africa and the Population Architecture using Genomics and Epidemiology Consortium. These projects are developing more diverse study populations to address the underrepresentation of people of non-European ancestries, in some cases going to African countries to collect genetic data. In the United States, individual investigators can also apply for smaller-scale NIH grants to study particular diseases.
Even when scientists make a conscious effort to recruit a diverse study population, they can run into hurdles. For very good reason, minority populations can be more skeptical and concerned about being involved in biomedical research, said professor Danielle Dick of Virginia Commonwealth University, who studies how genetics contribute to a persons risk of substance abuse. The good reason Dick referred to is a long history of biomedical researchers mistreating people of color, including in the Tuskegee trials and through the forced sterilization of Puerto Ricans. Dicks team and others have tried to address issues of underrepresentation by visiting various hospitals to recruit Hispanic or African-American study participants, providing educational materials about genetics research, arranging to collect samples when patients may be off work, and taking other measures to encourage participation.
But the imbalance in samples is so severe, and the rush to develop precision medicine is so swift, that the problem may not be solved before treatments are developed, and as a result, those treatments will likely predominantly help people of European ancestry. The time horizon for a lot of therapies is typically in the 10- to 15-year range, Fullerton said. Could we solve it in that time frame? Possibly. But genetic differences may already be causing disparities in treatment results between groups. Some genetic variants that are common to certain racial or ethnic groups can affect a patients tolerance for drugs, for example, so knowing about a patients genetic code can guide a physicians prescription. Doctors are observing these phenomena in the clinic already, said Nishadi Rajapakse, an NIH administrator at the National Institute on Minority Health and Health Disparities.
Clinical differences in health care are only likely to become more severe as precision medicine advances. New drugs are already targeting certain genetic differences, although none that would function primarily in one ethnic group and not in others. In the long run, people of European ancestry could benefit from ever more specialized treatments while people of color are left behind.
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Genetic counseling field to rapidly expand – CNBC
Posted: at 9:48 am
As a college student at the University of Mount Union in Alliance, Ohio, Megan McMinn studied biology, hoping to one day become a physician's assistant.
But a desire to interact even more with patients led her down a different path in genetic counseling.
"What genetic counseling gave me was a good split between patient care and the hard science research end of things," McMinn said.
At Geisinger Health System in Danville, Pa., McMinn sees about six patients a day, working in oncology. Soon, she'll move onto a cardiology clinic, helping to identify genetic risks for individuals and potentially their families. The system currently has 25 genetic counselors on staff, but anticipates needing hundreds more as genetic testing becomes cheaper and more accessible.
The trend extends far beyond Geisinger, as the field has grown dramatically in the past decade, touching all aspects of health-care as medicine becomes more personalized.
"Genetics permeates everythingthere won't be enough genetic counselors to see every patient who gets genetic information," said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC).
As a result, the Bureau of Labor Statistics projects the occupation will grow by 29 percent through 2024, faster than the average for all occupations
"I think [a genetic counselor] will become a key member of the team, discussing with patients and families what to do next, how to figure out how the genome is going to interact with your lifestyle and make decisions about what you want to do medically," said Dr. David Feinberg, president and CEO of Geisinger Health System.
Genetic counselors typically receive a bachelor's degree in biology, social science or a related field, and then go on to receive specialized training. Master's degrees in genetic counseling are offered by programs accredited by the Accreditation Council for Genetic Counseling, offered at some 30 schools in the U.S. and Canada, according to the NSGC.
Those who want to be certified as genetic counselors must obtain a master's degree from an accredited program, but do not need to be doctors.
The NSGC is also working to recruit new talent by doing outreach in middle and high schools to let younger students know the field is an option in the future. Pay is competitive as wellon average, counselors make around $80,000 a year, but that can increase up to $250,000 annually depending on specialty, location and expertise, Freivogel said.
Health insurance often pays for genetic counseling, and for genetic testing when recommended by a counselor or doctor. However, it's important to check with insurers before scheduling any tests as coverage levels vary. Cost also varies greatly, for example, as multi-gene cancer panels can range from $300 to $4,000 depending on the type of test, the lab used and whether the patient goes through his or her insurance or pays out of pocket.
And while at-home tests like 23andMe are typically less expensive, those taking them still need to see a genetic counselor to explain their results.
Part of the reason more counselors will be needed in the future at Geisinger is because the health system is home to the MyCode Community Health Initiative, one of the largest biobanks of human DNA samples of its kind, according to Amy Sturm, director of Cardiovascular Genomic Counseling at Geisinger. The project has consent from more than 150,000 patients to participate in having their entire DNA code sequenced and synced with their electronic medical records, to look for new causes of disease and different ways to treat conditions.
"We are figuring out and researching the best way to deliver this information back to our patients and also back to families with the ultimate goal of preventing disease and improving the healthcare system," Sturm said.
Keeping up with the latest in genomics, where new developments happen almost daily, can be a challenge. Yet counselors like McMinn say the ability to impact more than just the patient by studying the genome makes the job well worth it.
"We are able to bring to the forefront the fact that we're not just taking care of the patient, but we're taking care of the entire family," McMinn said.
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