When she was in her early 30s, Katy Mathes decided to check her cancer risk. A genetic test showed a mutation on a BRCA gene, which significantly raises a persons lifetime risk of developing hereditary breast or ovarian cancer.
Thirteen people in the family got testedher mother, her sister, cousins and aunts. Eleven had the mutation. Almost all did their testing with Myriad Genetics Inc., which introduced the first BRCA tests in 1996.
Here we are at the end of yet another year, a year that definitely went by faster than the year before or for that matter the year before that. And as ever at this time of year tis the season for casting ahead and divining what the future holds, delivering lists of top 10s and predictions of what will be hot and what will not.
In some fields, the resultant list will look very much like something delivered by the toss of a coin, but in the science and research areas it is pretty certain what will land in the top two or three subjects.
Number one has got to be climate and the impact of global warming. There is no other area that can match it for the variety and depth of research activity being applied to a whole range of climate-related subjects. And the hard news stories keep tumbling out of this endeavour, helping to show that global changes are taking place due to the alterations in climate that we as humans have set in motion.
One peer-reviewed study about the increasingly rapid loss of ice mass over Greenland was published less than a fortnight before Christmas. It showed that the biggest block of land ice in the northern hemisphere was melting away much faster than expected, seven times faster the study suggests.
Published in the journal Nature, it said the island lost 33 billion tonnes of ice on average during the last decade of the 20th century but the average annual ice loss for the most recent 10 years now stands at 254 billion tonnes of ice a year.
This is just one story and one research area, but climate-related studies arise in many fields from alteration of ocean currents to changed rainfall patterns and from species loss to poor air quality. It is also a subject area that affects us all given the potential of coastal flooding, crop losses and human migration to name but a few possible future impacts.
The impacts for humanity are also there in research into new ways to alter our genetic blueprints. The key to unlocking the potential to overcome gene-based diseases relates CRISPR CAS9, our current best technology for getting into the genome and then adding, deleting or altering individual genes.
It has the potential to reverse disease states by correcting unwanted mutations. It is being used in labs around the world as scientists seek to fully understand the method and apply it to alter genes. It is a powerful research tool, for example to create a mouse model that imitates a human disease state and then developing and testing drugs that might be used in humans. It also allows the researcher to look for any unwanted downstream effects arising from genetic alterations.
There are so many scientists using the CRISPR tools that news reports and discoveries will certainly follow. Yet most research scientists are concerned about the lack of controls or limits on what kind of genetic experiments that might be conducted on the human genome. Too little is known about unexpected problems if a number of genes are altered to eliminate a genetic disorder.
There is also the issue of genetic alteration of the germline, the genetic material that moves across to the next generation. There is currently an international block on germline alterations but that has not stopped at least one researcher who went ahead and created the worlds first two genetically modified humans. Breakthroughs will be delivered all through 2020 it is probably safe to say.
What might come third in this short list is up for grabs, and what might produce the next big scientific discovery could come from any direction. For that reason this report becomes a wish list relevant to Irish research and scientific endeavour related to our engagement with important international research bodies.
One of the most important decisions in this regard brings us closer to membership of Cern, Europes premier nuclear research body. A Dil committee studied the research and commercial potential arising from membership and called on the Government to join Cern as quickly as possible.
Cerns huge atom smasher confirmed the existence of the Higgs Boson, an international effort that involved many countries. Ireland could become more involved in this kind of research if it were a member. The Government has already taken the leap and announced our membership of the European Southern Observatory.
Our astronomers and physicists can now get access to some of the worlds largest telescopes based in Chile. The ESO is also a mill for discoveries and this membership gives us the potential to become international players in this field. And in more familiar territory, the Government has renewed its commitment to invest 100 million in the European Space Agency between now and 2024, a decision that ensures Ireland can bid for commercial contracts and researchers can participate in ESA activities. Our investment pays for itself given Irish companies can share in contracts.
All of the research areas mentioned here show how important it is to internationalise Irelands involvement in science. By doing this, we give more opportunities to promising young Irish scientists and help build a strong international reputation for research. Certainly that is not too much to ask for this Christmas.
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Another year of climate change, genetics and Irish scientific ambition - The Irish Times
New research led by La Trobe University in Australia has uncovered genetic clues which could explain why some people have more severe side effects from long-term methamphetamine use than others.
The research, published in Molecular Psychiatry found that variations in the gene known as BDNF strongly determine the effects of methamphetamine in the brain. This could potentially explain why some users develop methamphetamine-induced psychosis, which is similar to schizophrenia.
La Trobe neuroscientist Professor Maarten van den Buuse said the research, conducted using animal models, may lead to ways of identifying individuals at particular risk of developing psychosis and could mean a fundamental change in the way the effects of drug-induced psychosis on the brain are treated.
Drug-induced psychosis is generally treated with anti-psychotic medications, but these are not generally effective and are often associated with side effects. If further research is able to provide more details on the role genetics plays in the effects of long-term methamphetamine use, we could begin looking at therapies that would make a real difference for people affected by it."
Professor Maarten van den Buuse, La Trobe neuroscientist
The research looked specifically into the impact of methamphetamine use in adolescence and early adulthood, which is often when long-term users begin taking the drug, Professor van den Buuse said.
The findings are the result of collaboration between academics at La Trobe's School of Psychology and Public Health, and the La Trobe Institute of Molecular Science.
Source:
Journal reference:
Greening, D.W., et al. (2019) Chronic methamphetamine interacts with BDNF Val66Met to remodel psychosis pathways in the mesocorticolimbic proteome. Molecular Psychiatry. doi.org/10.1038/s41380-019-0617-8.
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Genetics plays a role in the effects of long-term methamphetamine use - News-Medical.net
NEW YORK The Jackson Laboratory announced on Wednesday that it has received $2.5 million from the Mark Foundation for Cancer Research to study the influence of host genetics on response to immunotherapy.
The researchers, who are conducting the study in mice, are aiming to generate new insights on which cancer patients will respond positively to immunotherapies, based on their genetic backgrounds. The project, "Dissecting the Genetic Control of Response to Immune Checkpoint Inhibitors in Cancer," has implications for how oncologists prescribe a treatment regimen, the lab noted.
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Jackson Laboratory Receives $2.5M Grant to Study Influence of Host Genetics on Immunotherapy - GenomeWeb
(WZAW) -- Jenna Finley is a board-certified genetic counselor at Invitae, a leading medical genetics company. After counseling patients for years, Jenna knew the power with genetic information, but with no strong family history of disease she wasnt concerned about her risk. She mostly wanted to better understand the experience of her patients.
Her results revealed a genetic change in a gene associated with an increased risk of breast cancer. She went to see her doctor, who referred her to a high-risk breast cancer clinic, where she worked with a team to establish a plan to carefully monitor her health. Now any signs of breast cancer that develop will be caught early.
With her job experience, Jenna knew that the other members of her family should be tested in case they, too, faced an increased health risks based on their shared genes. In fact, her mothers test came back positive for the same cancer-causing genetic change Jenna has. More surprisingly, her father learned that he has a disorder that causes excess iron in the bodys organs, which can be fatal.
Jennas father quickly went to his doctor who found his iron levels were so high that he had to begin treatment immediately to avoid potentially irreversible damage. Had Jenna and her parents not gone through the process of genetic testing, they might have ever known about these health conditions.
Studies show that increased genetic risks are common. In fact, 1 in 6 consumers in the U.S. have a medically actionable disorder and may not know it.
Genetic testing help with a wide range of health questions, whether youre current facing a health issue, planning for a family, currently expecting or interested in preventing disease.
For more information, visit http://www.invitae.com
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One woman's genetic test might have saved her father's lilfe - WSAW
Triplet Therapeutics, a biotechnology startup harnessing human genetics to develop treatments for repeat expansion disorders at their source, officially launched today with $59 million in financing including a $49 million Series A financing led by MPM Capital and Pfizer Ventures U.S. LLC, the venture capital arm of Pfizer Inc.Atlas Venture, which co-founded and seeded Triplet with a $10 million investment, also participated in the Series A alongside Invus, Partners Innovation Fund and Alexandria Venture Investments.
The company will use the Series A funds to progress its first development candidates into IND-enabling studies, as well as to advance natural history studies to inform its clinical development plan and contribute to the scientific understanding of repeat expansion disorders.
The Cambridge, Mass.-based Triplet was founded in 2018 by Nessan Bermingham, Ph.D., a serial biotech entrepreneur and venture partner at Atlas Venture, along with Atlas Venture and Andrew Fraley, Ph.D., to pursue a transformative approach to developing treatments for repeat expansion disorders, a group of more than 40 known genetic diseases associated with expanded DNA nucleotide repeats.Triplet Therapeutics is developing transformational treatments for patients with unmet medical needs by leveraging insights of human genetics to target the underlying cause of repeat expansion disorders, a group of more than 40 known genetic diseases including Huntingtons disease, myotonic dystrophy and spinocerebellar ataxias.
Triplet is developing antisense oligonucleotide (ASO) and small interfering RNA (siRNA) development candidates to precisely knock down key components of the DDR pathway that drive repeat expansion. This approach operates upstream of current approaches in development, targeting the fundamental driver of these diseases. By precisely reducing activity of select DDR targets, Triplets approach is designed to halt onset and progression across a wide range of repeat expansion disorders.
Were excited to launch Triplet today to transform the treatment of repeat expansion disorders, Dr. Bermingham said. This milestone would not have been possible without the contributions of thousands of patients, whose participation in genetic research has enabled us to build a fundamentally new understanding of the cause of these diseases. With this financing we are positioned to rapidly advance our initial development candidates toward the clinic for patients.
More than 40 repeat expansion disorders have been identified, and most of these diseases are severe with limited to no treatment options, said Jean-Franois Formela, M.D., partner at Atlas Venture and Board Chair of Triplet. We have built Triplet to fundamentally transform what has been the treatment strategy for these diseases up to now.
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Biotech startup Triplet Therapeutics launches with $59M to harness human genetics to develop treatments for repeat expansion disorders -...
By StaffThe Canadian Press
Posted December 17, 2019 3:09 pm
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A Newfoundland First Nation has announced a study of genetic links between its members and ancient Indigenous inhabitants of the island, including the Beothuk people.
Miawpukek First Nation announced the study this month, to be done in partnership with Terra Nova Genomics, Inc. and funded by a National Geographic Explorers grant of US$30,000.
READ MORE: Rare DNA quirk could reveal mysteries of Newfoundlands first settlers
Chief MiSel Joe says the study offers an opportunity to compare oral stories that trace family histories back to the Beothuk widely thought to be extinct with scientific evidence.
Researchers plan to begin looking at DNA testing kits from a sample group of 20 people, eventually expanding to assess samples from as many volunteers as possible.
Genetics professor Steven Carr with Terra Nova Genomics says the study is the largest of its kind with an Indigenous group in Canada.
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READ MORE: Remains of two Beothuk people to be returned to Canada
Testing is set to begin in January and Carr says it may be a year or more before findings are ready for publication.
2019 The Canadian Press
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Newfoundland First Nation to study genetic links with ancient Beothuk - Global News
Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the instruction book containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.
The genetic coding system works amazingly well, but like all systems, occasionally things dont go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code develops an error causing you to have a devastating disease.
If genetic testing is so powerful in analysing and understanding your health, why cant you just as easily have this same genetic information inform your care at the doctors office? To answer this question, lets first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).
Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.
Precision medicine is a growth area
With all this money and effort being expended, why isnt the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forums Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.
Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.
These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctors office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:
1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply dont have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white
2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.
3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).
4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply wont order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.
Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.
We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.
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Written by
Arthur Hermann, Fellow, Precision Medicine, World Economic Forum
The views expressed in this article are those of the author alone and not the World Economic Forum.
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How to bring precision medicine into the doctor's office - World Economic Forum
A famed Harvard geneticist is defending his work on a genetics-based dating appand distancing himself from Jeffrey Epstein, the science-obsessed pedophile who fantasized about spreading his DNA by inseminating 20 women at a time at his ranch.
The fact that there are people with completely idiotic ideas about genetics doesnt mean Im one of them, George Church told The Daily Beast in a phone interview.
Just because they hung out with me briefly doesnt mean I bought into their malarkey in any sense, just like geneticists today dont buy into the eugenics of the 1920s.
Church has had to account for his links to Epstein numerous times since the disgraced money manager was indicted for sex-trafficking and then killed himself in jail last August. Most recently, he was grilled about their relationship during a 60 Minutes profile that included Churchs plans for the dating app, which critics have denounced as a modern form of eugenics.
Epstein helped fund Churchs lab at Harvard before being unmasked as a predatorbut Church has admitted maintaining contact with Epstein even after the financier served time and registered as a sex offender.
Now Church has confirmed to The Daily Beast that he was one of several notable scientistsincluding Harvard biology professor Martin Nowak, Harvard astronomy professor Dimitar Sasselov, MIT physics professor Seth Lloyd, and the pioneering biologist Steven Bennerwho attended a 2007 gathering on Epsteins private island Little St. James.
Photos verified by Church show them together on the beach and around a blackboard in discussion with Epstein. The property was nicknamed pedophile island by locals because of the alleged sexual abuse of girls, but Church said he saw nothing untoward at the gathering, which predated Epsteins 2008 guilty plea.
Scientific meetings take place all over the place, and usually youre so wrapped up in the meeting that you dont take advantage of the place youre in. This was one of those cases. We did our science nerd thing and left, he said, noting that the scientists slept on a different island.
Church said the attendees were there to discuss the origins of life and that Nowak later published a paper based on the discussions. We just came there for the meeting and then came back. We looked around the beach a bit. There wasnt much there, frankly. He was building something, some structure, he said.
Church said that Epstein had no influence on his work, which has been focused on allowing humans to live longer with fewer diseases.
To that end, he made an off-handed reference during the 60 Minutes interview to a dating app that would match couples with the goal of eliminating severe hereditary diseases. His brainchild was not well-received. A Fordham associate ethics professor told The Daily Beast the concept sounds like eugenics, likening it to the Nazi ideal of cultivating a master race.
Church said hes been describing the same idea for years now without any furor.
If you know what youre doing is the right thing to help families have healthy children, I dont think you need to worry whether somebody somewhere has been associated with you in a way thats less than ideal.
Church said it was preposterous to compare his work to eugenics.
Its ludicrous to think thats what Im doing, but it makes good clickbait, doesnt it? he said.
The app would prevent people from matching with partners with similar genetic mutations that would induce a congenital disease like Tay-Sachs on the couples children. The geneticist said the technology will likely work alongside established dating sites and apps as a premium service rather than as a standalone, and it wouldnt have access to a users full genome, only whether the person carries specific alleles related to congenital disease.
Eugenics is coercive. Rather than restricting peoples options for their health and their families, were expanding them, he said. Were not going to be forcibly sterilizing people, if thats the business model they think were up to. Thats as far from what we intend to do as can be.
The MIT Technology Review identified the technologys parent company as DigiD8, incorporated in September by Churchs cofounder Barghavi Govindarajan. Its slogan: Science is your wingman. Church said hes funding the app alongside private investors and declined to disclose the amount the fledgling company has raised, calling it adequate. Harvard is not among the investors, he said.
He sees the matchmaking app as a continuation of his work on genetics and part of his duty as a scientist.
I felt like Im providing all these great tools, but theyre very expensive. Gene therapy is a couple million bucks. I feel like its my responsibility to point out alternatives, he said. Its very early stage, though.
One of the questions lingering over the proposed technology is who will decide what genes the software will screen for. Would it further stigma against the chronically ill and disabled? Against trans people, as Vice suggested? Against certain races?
Church said he and his team would leave that question to clinical geneticists, but he described the criteria as genes that result in illnesses that cause very premature deaths, often with pain and a lot of medical costs. He said that the screening would likely rule out only five percent of someones dating pool.
There is no line, just as theres no line with what speed limits should be on the road, but you have to draw one, and medical doctors are very good at drawing practical lines, he said.
Church said hes open to critics, despite what he saw as their overreaction.
If any doubters, after they see whats actually there, make a compelling counterargument, I may change directions, he told The Daily Beast. Im very open to suggestions, and Im very interested to hear what everybody has to say once they see whats really there.
He said he wasnt expecting 60 Minutes to air his comments about the dating app. He published a FAQ Wednesday on his website explaining some details of what the technology would look like.
There are medical tests that perform the same function Churchs dating app would. Couples considering IVF can take genetic compatibility tests for specific conditions, and women undergoing the treatment can screen their embryos and weigh the option of abortion if they test positive. Churchs app would start far earlier in the romantic process, which he views as a positive.