Category Archives: Gene Medicine

August 3, 2017 6:22 PM

NEW YORK (CBSNewYork) A major scientific breakthrough was announced this week, and it could wipe out certain diseases.

As CBS2s Dr. Max Gomez reported, researchers for the first time have fixed a faulty gene in a human embryo. The genetic engineering procedure could be revolutionary, but people are afraid of how it might be used.

Genetic engineering has been around for some years, but using it actually to repair DNA mutations that cause disease is very hard to do.

But now, in a landmark study, researchers from the U.S., China, and Korea have fixed a faulty gene that causes a lethal heart condition.

Medical science has known for many years that certain serious diseases are caused by genetic mutations that are passed along from generation to generation. Researchers have long dreamed of repairing those errors in DNA.

The goal of preventing and permanently eliminating terrible genetic diseases were talking here cystic fibrosis, Tay-Sachs disease, sickle cell, hemophilia thats been a long-sought goal of medicine, said Dr. Arthur Caplan of NYU Langone Medical Center.

The goal just took a big step toward reality with a study in the journal Nature. It involved using a sperm cell from a male with a mutation known to cause a lethal heart muscle condition, which was used to fertilize an egg without the mutation.

The key was using a new gene-editing technique called Clustered Regularly Interspaced Short Palindromic Repeats or CRISPR that found and removed the defective gene.

The unexpected result was that the fertilized egg used the copy of the normal gene from the mothe to repair and replace the edited gene.

And it worked in most of the embryos tested, according to Eric Schadt, dean for precision medicine at the Icahn School of Medicine at Mount Sinai Hospital.

The efficiency of the overall procedure was much higher than earlier, Schadt said. Over 70 percent of the embryos that were targeted were corrected, so it just brought it much closer to prime time and being able to think about its use in clinical applications.

But like most powerful technologies, the potential for good comes with the possibility for abuse.

You dont just fix diseases. You wind up trying to improve or enhance our offspring. You try to make super babies, Caplan said. Whos going to guarantee access? Whos going to try and guarantee reasonable pricing. Theres a lot of money to be made out here.

Another caution that both Caplan and Schadt pointed out is that while the embryos looked normal, they were only allowed to develop for a few days in a petri dish.

That is a long way from knowing that an engineered embryo would yield a normal baby. Information about safety is not known.

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Embryonic Gene Editing Could Wipe Out Several Conditions, Researchers Say - CBS New York

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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Groundbreaking study demonstrates promise and controversy of gene editing in embryos - ABC News

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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Ben-Gurion University scholars uncover the secret to personalized medicine - The Jerusalem Post

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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Kalter: Gene-editing brings hope - Boston Herald

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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Medicine Is Getting More Precise For White People - FiveThirtyEight

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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Genetic counseling field to rapidly expand - CNBC

Last year, Britain said some of its scientists could edit embryo genes to better understand human development.

And earlier this year in the U.S., the National Academy of Sciences and National Academy of Medicine said in a report that altering the genes of embryos might be OK if done under strict criteria and aimed at preventing serious disease.

"This is the kind of research that the report discussed," University of Wisconsin-Madison bioethicist R. Alta Charo said of the news of Oregon's work. She co-led the National Academies panel but was not commenting on its behalf Thursday.

"This was purely laboratory-based work that is incredibly valuable for helping us understand how one might make these germline changes in a way that is precise and safe. But it's only a first step," she said.

"We still have regulatory barriers in the United States to ever trying this to achieve a pregnancy. The public has plenty of time" to weigh in on whether that should occur, she said. "Any such experiment aimed at a pregnancy would need FDA approval, and the agency is currently not allowed to even consider such a request" because of limits set by Congress.

One prominent genetics expert, Dr. Eric Topol, director of the Scripps Translational Science Institute in La Jolla, California, said gene editing of embryos is "an unstoppable, inevitable science, and this is more proof it can be done."

Experiments are in the works now in the U.S. using gene-edited cells to try to treat people with various diseases, but "in order to really have a cure, you want to get this at the embryo stage," he said. "If it isn't done in this country, it will be done elsewhere."

There are other ways that some parents who know they carry a problem gene can avoid passing it to their children, he added. They can create embryos through in vitro fertilization, screen them in the lab and implant only ones free of the defect.

Dr. Robert C. Green, a medical geneticist at Harvard Medical School, said the prospect of editing embryos to avoid disease "is inevitable and exciting," and that "with proper controls in place, it's going to lead to huge advances in human health."

The need for it is clear, he added: "Our research has suggested that there are far more disease-associated mutations in the general public than was previously suspected."

Hank Greely, director of Stanford University's Center for Law and the Biosciences, called CRISPR "the most exciting thing I've seen in biology in the 25 years I've been watching it," with tremendous possibilities to aid human health.

"Everybody should calm down" because this is just one of many steps advancing the science, and there are regulatory safeguards already in place. "We've got time to do it carefully," he said.

Michael Watson, executive director of the American College of Medical Genetics and Genomics, said the college thinks that any work aimed at pregnancy is premature, but the lab work is a necessary first step.

"That's the only way we're going to learn" if it's safe or feasible, he said.

___

A version of this article appears in print on July 28, 2017, on Page A13 of the New York edition with the headline: U.S. Scientists Edit Genes in Human Embryo.

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In US First, Scientists Edit Genes of Human Embryos - New York Times

TUESDAY, Aug. 1, 2017 (HealthDay News) -- Idhifa (enasidenib) has been approved by the U.S. Food and Drug Administration to treat adults with a specific genetic mutation that leads to relapsed or refractory acute myeloid leukemia (AML).

The mutation in the IDH2 gene can be diagnosed with a newly approved companion diagnostic, the RealTime IDH2 Assay, the agency said in a news release Tuesday.

"The use of Idhifa was associated with a complete remission in some patients and a reduction in the need for both red cell and platelet transfusions," said Dr. Richard Pazdur, director of the FDA's Oncology Center of Excellence.

AML is a rapidly progressing cancer that begins in the bone marrow and causes an abnormally high number of white blood cells. More than 21,000 people in the United States are projected to be diagnosed with the disease this year, and more than 10,000 are likely to die from it, the U.S. National Cancer Institute estimates.

Idhifa is designed to block enzymes that foster cell growth. The drug was clinically evaluated in a trial of nearly 200 people with relapsed or refractory AML whose IDH2 mutations were detected by the newly approved diagnostic. After a minimum of six months of treatment, 34 percent of trial participants no longer required blood transfusions, the FDA said.

Common side effects of the drug included nausea, vomiting, diarrhea, elevated levels of bilirubin (a byproduct of the liver as red blood cells are broken down) and loss of appetite.

The drug's label will contain a boxed warning of a deadly side effect called differentiation syndrome, with possible symptoms including fever, difficulty breathing, lung inflammation and rapid weight gain.

Women who are pregnant or breast-feeding shouldn't take the drug, the agency warned, as it could harm a developing fetus or newborn.

Idhifa is produced by Celgene Corp., in Summit, N.J. The RealTime IDH2 Assay is produced by Chicago-based Abbott Laboratories.

The FDA has more about these approvals.

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Idhifa Approved for Some With Acute Myeloid Leukemia - Sioux City Journal

Updated | Late last week, reports emerged that scientists in Oregon had used gene-editing technology, known as CRISPR-Cas9, to edit a human embryo. While research like this is already occurring in China and Great Britain, this is the first time scientists in the U.S. have edited an embryo.

The move raises thequestion of whether regulations are strict enough in the U.S. Both Congress and the National Institutes of Health have explicitly said they would not fund research that uses gene-editing to alter embryos. But laws and guidelines are not keeping pace with this fast-moving and controversial work.

CRISPR is an experimental biomedical technique in which scientists are able to alter DNA, such as change the misspellings of a gene that contributes to mutations. The technology has the potential to reverse and eradicate congenital diseases if it can be used successfully on a developing fetus.

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Here's how CRISPR gene editing works. REUTERS

The news frenzy that followed this announcement was based on a leak from unknown sources. Initial reports emerged from a number of less known sources, including MIT Technology Review, that Shoukhrat Mitalipov of Oregon Health and Science University used the technology to change the DNA of not just one, but a number of embryos. But the news stories about this research werent based on a published study, which means they dont provide the full picture. No one yet knows what the researchers did or what the results were.

Until now, most of the breakthrough research on CRISPRaside from the discovery itself, which is attributed to multiple research groups in the U.S. has occurred in China. InApril 2015, Chinese scientists reported that theyd edited the genome of human embryos, a world first, in an attempt to eliminate the underlying cause of a rare blood disorder.

Researchers there have also been experimenting with CRISPR technology to treat cancer. Last spring, a team of scientists at Sichuan Universitys West China Hospital used the approach to modify immune cells in a patient with an aggressive form of lung cancer. The researchers altered genes in a bid to empower the cells to combat the malignancy. Another group of Chinese scientists tried changing genes in blood that were then injected into a patient with a rare form of head and neck cancer to suppress tumor growth.

Despite potential of CRISPR to cure fatal diseases, the technology has fast become one of the most significant challenges for bioethicists. Some people view its power as potentially dangerous because it could allow scientists to cherry-pick genetic traits to create so-called designer babies.

Arthur Caplan, a professor of bioethics at New York University's Langone Medical Center and founding director of NYULMC's division of medical ethics thinks the fears are overblown. Gene-editing technology, says Caplan, is nowhere near this sci-fi fantasy.

If you would compare this to a trip to Mars, you're basically launching some satellites, says Caplan. He suggests that much of the media coverage on CRISPR is melodramatic, including last weeks coverage of researchers meddling with an embryo. We haven't shown that you can fix a disease or make someone smarter.

Lack of Guidelines

CRISPR technology isnt ready for clinical use, whether to stop serious genetic diseases or simply make brown eyes blue. But geneticists are working toward these goals, and the scientific community is ill-prepared to regulate this potentially powerful technology.

So far guidelines for using CRISPR are minimal. In 2015, the National Institutes of Health issued a firm statement. Advances in technology have given us an elegant new way of carrying out genome editing, but the strong arguments against engaging in this activity remain, the NIH said in its statement. These include the serious and unquantifiable safety issues, ethical issues presented by altering the germline in a way that affects the next generation without their consent, and a current lack of compelling medical applications justifying the use of CRISPR/Cas9 in embryos.

But although the NIH wont back CRISPR research for embryo editing, that doesnt mean such research is prohibited in the U.S. Private organizations and donors fund researchers. Caplan suspects this is how the team in Oregon managed to carry out their experiment.

In February 2017, the National Academy of Sciences and the National Academy of Medicinetwo leading medical authorities that propose medical and research guidelines for a wide range of research and medical topics issued sweeping recommendations for the use of CRISPR technology. In their joint Human Genome Editing: Science, Ethics, and Governance report, the panel of experts deemed the development of novel treatments and therapies an appropriate use of the technology. The recommendations also approve investigating CRISPR in clinical trials for preventing serious diseases and disabilities and basic laboratory research to further understand the impact of this technology.

The authors of the report caution against human genome editing for purposes other than treatment and prevention of diseases and disabilities. But the line between treatment and enhancement isnt always clear, says Caplan. And policing so-called ethical uses of CRISPR technology will be increasingly difficult because single genes are responsible for a myriad diseases and traits. You don't realize that you're changing DNA in places you don't want to, he says.

A source familiar with the controversial Oregon research reported last week told Newsweek that a major journal will publish a paper on the work by the end of this week. According to The Niche, a blog produced by the Knoepfler Lab at University of California Davis School of Medicine in Sacramento, California, the paper is slated to be published in Nature . Mitalipov did not respond to Newsweek s requests for comment or confirmation.

Caplan hopes that publication of the paper will initiate further discussion about the ethics of experimenting with CRISPR including practical measures such as a registry for scientists conducting studies through private funding. We need to have an international meeting about what are the penalties of doing this, he says. Will you go to jail or get a fine?

This story has been updated to note that the initial report of the CRISPR research in Oregon was based on a leak, but did not necessarily misconstrue the research.

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Gene Editing Is Revolutionizing Medicine but Causing a Government Ethics Nightmare - Newsweek

Xconomy Boston

One day after the release of a Nature Medicine paper warning of the potential hazards of testing CRISPR-Cas9 gene editing in humans, Homology Medicines, a startup advancing a different genetic surgery technique, has just grabbed a big round of funding to make its own clinical push.

Homology, of Bedford, MA, wrapped up an $83.5 million Series B round this morning. A wide group of investors led by Deerfield Management provided the funding, bringing the companys total amount raised to a whopping $127 million since it was formed last year.

Homology is making the bold claim that its underlying science, technology it calls AMEnDR, is a better version of existing gene editing methods, among them the CRISPR-Cas9 technology that has taken the scientific research world by storm and has led to the formation of three now publicly traded companies, Editas Medicine (NASDAQ: EDIT), Intellia Therapeutics (NASDAQ: NTLA), and CRISPR Therapeutics (NASDAQ: CRSP).

CRISPR gene editing is a two-part biological system that researchers can use to help irreversibly alter DNA. The three companies are involved in a high-stakes race to use the technology to develop human therapeutics, with the first clinical trials expected to begin next year. Yet one of the fears involved in bringing the technology to human trials is the possibility of off-target effectsa genetic surgery error that causes irreparable damage, like cancer. One of the fields pioneers, Feng Zhang of the Broad Institute of MIT and Harvard, just co-authored a paper in Nature Medicine urging caution about the rush to move forward. Zhang and colleague David Scott argued that researchers should analyze patients DNA before giving them CRISPR-based drugs, citing the myriad differences between each persons genetic makeup.

Homology isnt using CRISPR, like its publicly traded rivals. Instead, its recreating a natural biological process known as homologous recombination, which cells in humans and other species do to repair DNA damage or, in the case of bacteria, to improve their genetic diversity. In homologous recombination, one chromosome essentially swaps one short DNA sequence for another similar one. Homology aims to engineer a piece of healthy DNA, pack it into a type of adeno-associated virus, or AAVa delivery tool commonly used in gene therapy and gene editing technologiesand infuse it into the body. The virus carrying the DNA locks on to the cell that needs a genetic fix, enters it, and releases its DNA payload. The healthy DNA then swaps places with the faulty gene inside the patients cells. If and when the cells divide, the new cells would carry the fixed gene, not the faulty one. One potential benefit of this approach is there may be less likelihood of an off-target error, like mutations in the target DNA that cause cancer, than with CRISPR.

Thats the hope, but the technology hasnt been tested in humans as of yet. With the new cash, however, Homology is getting a shot to try. In a statement, Homology CEO Arthur Tzianabos said the funding will help Homology bring its first drug candidate toward the clinic, though he didnt specify how long that might take. The company is focusing on rare diseasesno surprise given Tzianabos, chief operating officer Sam Rasty, and chief scientific officer Albert Seymour all worked with one another at rare disease giant Shire (NASDAQ: SHPG). According to its website, the company will develop therapies for inborn errors of metabolism, and Duchenne muscular dystrophy and cystic fibrosis are among its potential targets as well. (Duchenne and cystic fibrosis are early targets of CRISPR-based medicines as well.)

Fidelity Management and Research, Novartis, Rock Springs Capital, HBM Healthcare Investments, Arch Venture Partners, Temasek, 5AM Ventures, Maverick Ventures, Vida Ventures, Vivo Capital, and Alexandria Venture Investments also took part in the funding. Heres more on Homology, and gene editing with CRISPR-Cas9.

Ben Fidler is Xconomy's Deputy Biotechnology Editor. You can e-mail him at bfidler@xconomy.com

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Homology Med Bags $83.5M More, Fueling Push For Gene Editing ... - Xconomy