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Archive for the ‘Genetics’ Category

How a Venture Investor with a PhD in Genetics Helped This Biotech Firm Get Started, Funded, and Acquired – Inc.

Tuesday, October 5th, 2021

IN 2016, INVENTOR and scientist Erik Gentalen reached out to a former colleague with exciting news, and a proposition.

"I started a company, and we could use some help," Gentalen said. The former colleague, Lena Wu, had worked with him around 15 years earlier as the director of business development at Caliper Technologies, a Mountain View, California-based bioresearch firm. Gentalen's new company, Intabio, would launch his latest invention, an instrument to analyze and ensure the efficacy and safety of biopharmaceutical drugs. Called the Blaze System, the machine could reduce the analysis time from weeks in some cases to less than 30 minutes per sample, dramatically shortening a drug's development period.

Wu joined Intabio's board later that year and became CEO the next. It was a hire that paid dividends in unexpected ways. When it came time to raise startup capital, Gentalen turned to Genoa Ventures managing director Jenny Rooke, whom he'd met through other investors in the life sciences industry.

"It was Erik's openness to bringing in Lena's complementary strengths that attracted me to the company," Rooke says. "When Lena joined forces with Erik as his business partner and Intabio's CEO, I knew the time was right."

In 2017, Rooke's San Francisco-based venture capital firm led Intabio's $3.2 million seed financing.

"It was clear from the earliest meeting that Jenny had great technical expertise, was willing to be collaborative in solving issues, and was thoughtful and strategic," Wu says. "Many people in Jenny's position are super supportive but not critical. She's the rare combination of both."

Rooke honed her expertise while earning a PhD in genetics at Yale, after which she worked at McKinsey advising pharmaceutical and biotech companies on business strategy. She also served in the executive ranks of U.S. Genomics (later called PathoGenetix), leading R&D and corporate development. Rooke knew the business. According to Wu, she had a keen eye for burnout, a common affliction among entrepreneurs. "She would say, 'You need to take a break. Now, go on vacation,' " Wu recalls. "I've never had another VC tell me to go on vacation."

Though Genoa didn't lead Intabio's Series A or Series B funding rounds, which brought the company's total funding to $30 million, Rooke introduced Wu to other investors and identified VCs to target. "We gained a great deal of credibility as a good investment given Jenny's reputation and the fact that she led our seed round," Wu says.

Intabio's first non-founder hire after raising capital was principal scientist Scott Mack, who helped develop the company's technology and was the first author of the company's published scientific paper describing the technology. (Mack's dog is also the Blaze System's namesake.) As of early 2021, Intabio had more than 40 employees.

Mack and Blaze (the system, not the dog) had their work cut out for them. Getting from a prototype that was tested only in-house at Intabio to a pre-commercial beta system took three years of development. Pharmaceutical companies Pfizer and Janssen Pharmaceuticals beta-tested the Blaze system, while Merck was an "early access collaborator" that sent samples to Intabio to analyze at the company's lab and return the results. Wu developed Intabio's go-to-market strategy and early access program, with Rooke helping refine and pressure-test aspects of the strategy.

When all was said and done, the proof-of-concept method worked. In January 2021, the life sciences company Sciex announced it had acquired Intabio for an undisclosed sum, just three and half years after the startup began operations. And when negotiating the deal, Wu relied on Rooke to play the role of not just investor but true partner.

"Jenny's input was, as always, both supportive and rigorous," Wu says. "It gave me the confidence that as a management team, we were making the right decision."

From the October 2021 issue of Inc. Magazine

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How a Venture Investor with a PhD in Genetics Helped This Biotech Firm Get Started, Funded, and Acquired - Inc.

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The Multiple System Atrophy Coalition Announces a Groundbreaking Project to Explore the Genetics of MSA – Johnson City Press (subscription)

Tuesday, October 5th, 2021

MCLEAN, Va., Oct. 1, 2021 /PRNewswire-PRWeb/ --The Multiple System Atrophy ("MSA") Coalition announces a ground-breaking million-dollar multi-year collaborative project focused on exploring the genetics of up to 1,200 people with either a diagnosis of probable MSA, in the case of living patients, or postmortem pathological confirmation of multiple system atrophy, aimed at locating commonalities in their genes that might contribute to the development of multiple system atrophy. The aim of this collaborative study is to sequence and organize the genomes of existing genetic samples as well as to organize previously sequenced whole-genome data into a single database that is accessible to researchers worldwide. While many researchers have looked at the genetics of MSA, this will be the first time such a large number of genomes from ethnically diverse populations have been sequenced and organized in such a way as to facilitate thorough analysis and collaborative enterprise.

"MSA is not typically passed from parent to child, except in extremely rare cases. However, there are still important clues about the underlying cause of MSA that can be found by examining the genetic code of a large population of MSA patients and looking for commonalities. Because MSA is a such a rare disease, there is a need for multiple researchers to work together and pool their data. Until now there has not been a concerted effort among genetic labs to combine these rare genetic samples from MSA patients with diverse backgrounds into a large, shared database," said Pam Bower, chair of the MSA Coalition's research committee. "The MSA Coalition is proud to be the driver of this ground-breaking study."

University of Florida will perform genetic sequencing under the direction of Matt Farrer, PhD, while storage, analysis and visualization of data will occur at Harvard Medical School in the Clinical Genome Analysis Platform ("CGAP") under the direction of Dana Vuzman, PhD. Additional genomic information will be provided by University College of London, Queen Square Institute of Neurology under the direction of Henry Houlden, MBBS, MRCP, PhD; by Translational Genomics Research Institute (TGen) under the direction of Matt Huentelman, PhD (Funded in part by the Rex Griswold Foundation, a grant from the NIH NINDS (R21-NS093222, PI: Huentelman), and through institutional support of TGen.); and by Seoul National University, under the direction of Beomseok Jeon, MD, PhD and Han-Joon Kim, MD, PhD. The Core G team also plans to coordinate their work with that being done at NIH under the direction of Sonja Scholz, MD, PhD. The group, collectively known as "Core G" (Genetics), will work closely with Vik Khurana, MD, PhD, board member and Scientific Liaison of the Board of Directors of the MSA Coalition and Chief of the Movement Disorders Division at Brigham and Women's Hospital and Harvard Medical School. Dr. Khurana will endeavor to integrate Core G team-member efforts more broadly into the MSA Collaborative Cores Initiative sponsored by the Coalition that will seed fund additional projects over time.

"I am thrilled that after years of planning and deliberation that Core G is funded and ready to go," said Khurana. "This group of terrific researchers, together with their expertise, bring precious patient samples from three continents to establish a foundation upon which other collaborations and initiatives will be built. We are under no illusion that the genetics of MSA will prove challenging, no less than a moonshot. At the same time, genetic insights promise to unlock powerful hypothesis-driven science that can find cures. And so, this moonshot is worth the effort and has been structured to be collaborative, open and sustainable in the long-term."

"We are incredibly proud of assembling this group of world-renowned researchers to collaborate on this project. It has taken almost three years to organize this project and obtain consents from all the institutions involved. Great care has been taken by all contributing institutions to safeguard the privacy of the patients and anonymize the genetic materials, so that patient privacy is protected," said Cynthia Roemer, MSA Coalition board chair. "We are also grateful to our many donors, who have made this project possible, and to the patients we have lost to MSA who generously left bequests to the MSA Coalition to further critical research like this. We quite literally could not do it without them!"

Dana Vuzman, PhD is an Instructor of Medicine at Harvard Medical School and the Director of Genomic Platform Development at DBMI. Dr. Vuzman oversees the implementation of the Clinical Genome Analysis Platform (CGAP) and the Single Cell RNA Platform in the Department. Prior to joining DBMI, she served as Chief Informatics Officer at One Brave Idea, Sr. Director of Biomedical Informatics at KEW, Inc., and Co-Director at Brigham Genomic Medicine. Dr. Vuzman earned her PhD in Computational Biology from the Weizmann Institute of Science in Israel and completed her postdoctoral training in Computational Genetics at Brigham and Women's Hospital and Harvard Medical School.

Matt Farrer, PhD is critically acclaimed for his work in the genetics and neuroscience of Parkinson's disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned his first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary's Hospital Medical School, UK. He completed a fellowship in Medical Genetics at the Kennedy-Galton Centre, UK and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000 where he opened his first laboratory to predict and prevent Parkinson's disease. Dr. Farrer became a tenured professor in 2006, a Mayo Consultant, and subsequently, a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada where he became a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine, and his team had many notable accomplishments including several new genes and mouse models for Parkinson's disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia and was a first for Canada.

In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine's Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, and the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.

Henry Houlden, MBBS, MRCP, PhD: Dr. Houlden is a professor of neurology and neurogenetics in the Department of Neuromuscular Disease, University College, London, Queen Square Institute of Neurology, and undertakes research laboratory works on neurogenetics and movement disorders with a particular interest in rare diseases that are adult or childhood-onset, such as multiple system atrophy (MSA), spinocerebellar ataxia and other movement disorders, inherited neuromuscular conditions, and difficult to diagnose disorders, particularly in diverse and underrepresented populations. He assists with the integration of new gene discovery with exome and genome sequencing identifying disease genes such as CANVAS, NARS1, NKX-6.2, SCA11, SCA15, GRIA2, and GAD1, with functional experimental validation in human tissue and other model systems. Dr. Houlden has clinical expertise in inherited neurological disorders and movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions.

Matt Huentelman, PhD: Dr. Huentelman's research interests center around the investigation of the "-omics" (genomics, transcriptomics, and proteomics) of neurological traits and disease. His laboratory's overarching goal is to leverage findings in these disciplines to better understand, diagnose, and treat human diseases of the nervous system.

Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute where he investigated the application of gene therapy in the study and prevention of hypertension. His undergraduate degree is in Biochemistry from Ohio University's Department of Chemistry and Biochemistry at Clippinger Laboratories. Dr. Huentelman's career includes visiting researcher stints in Moscow, Russia at the MV Lomonosov Moscow State University "Biology Faculty" and in the United Kingdom within the University of Bristol's Department of Physiology.

Beomseok Jeon, MD, PhD: Professor Jeon is the medical director of the Movement Disorder Center, Seoul National University Hospital and is interested in genetics of Parkinsonism and medical and surgical treatment of advanced Parkinson's Disease.

Dr. Jeon earned his undergraduate, MD and PhD degrees from Seoul National University. His clinical interests include Parkinson's disease and other movement disorders including tremor, ataxia, dystonia, and chorea. His research focuses on the role of genetics in movement disorders, especially in the Korean population. He has established a DNA bank of thousands of Korean patients with movement disorders and normal controls. He is also involved in treatment of advanced Parkinson disease, and works with neurosurgical colleagues for various surgical treatment.

Han-Joon Kim, MD, PhD: Dr. Kim is a Professor in the Department of Neurology and the Movement Disorder Center at Seoul National University Hospital, Seoul, Korea. After graduation from the Medical College of Seoul National University in 1997, Dr. Kim took an internship and residency in neurology at Seoul National University Hospital (SNUH) where he became a Movement Disorder Specialist.

Clinically, Dr. Kim has experience with patients with various movement disorders including Parkinson's Disease (PD), Multiple System Atrophy (MSA), other atypical Parkinsonisms, and ataxias. Notably, Dr. Kim has set up a large registry of Korean MSA patients, which will serve as a basis for both observational and interventional studies in this rare disease.

Sonja W. Scholz, MD, PhD: Dr. Scholz is a Neurologist and Neurogeneticist specialized in movement and cognitive disorders. She received her medical degree from the Medical University Innsbruck, Austria. Following graduation, she was a post-doctoral fellow at the Laboratory of Neurogenetics at the NIH's National Institute on Aging (NIA) under the supervision of Drs. Andrew Singleton and John Hardy. She obtained a Ph.D. in Neurogenomics from the University College London, UK in 2010. She then moved to Baltimore to complete her neurology residency training at Johns Hopkins. In 2015, Dr. Scholz received the McFarland Transition to Independence Award for Neurologist-Scientists. She is a Lasker Clinical Research Tenure Track Investigator within the Neurogenetics Branch at the NIH's National Institute of Neurological Disorders and Stroke (NINDS). Her laboratory focuses on identifying genetic causes of neurodegenerative diseases, such as dementia with Lewy bodies, multiple system atrophy, and frontotemporal dementia.

Media Contact

Moriah Meeks, MSA Coalition, +1 (312) 270-0171, mmeeks@staff.msacoalition.org

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This startup wants to keep your dog alive longer based on genetic info – The American Genius

Tuesday, October 5th, 2021

Data breaches are scarily common in todays digital world, and even gargantuan businesses can easily be brought to their knees should a wayward phishing attempt (or a disgruntled former employee) succeed in making off with valuable information.

While your small business probably doesnt have all of the same calibre of worries as your more monolithic counterparts, dont make the mistake of thinking that your data cant be stolen to devastating effect, even if you think the data you have is irrelevant and not worthy of being stolen (youre wrong).

Cloud storage and increased collaborative tool use means that things like sensitive documents and files are at increased risk of theft. Small businesses are especially susceptible to this due to a lower likelihood of advanced security usage, so it pays to know what kinds of things you might be at risk of losing.

According to MUO, employees are most likely to steal collaborative documents, consumer databases, and any resources devoted to research and development.

Safeguarding these items can be tricky due to their relatively high-traffic use, so a preventive strategy is your best defense.

It should be noted that trust in your employees is crucial, and treating them like theyre poised to steal from you at any moment is not a particularly effective management strategy.

However, its important to be aware of the following reasons and possible preventive measures for employee theft of data.

Firstly, corporate espionage (as dramatic as it sounds) is still something you have to worry about as a small business owner. It isnt uncommon for competitors to bribe (or even simply persuade) current employees to share data, even if your competitors are relatively small themselves.

Your employees should know that data is sacred (and confidential), but employing things like intrusion systems and holding trainings for recognition of espionage can help prevent this problem.

Those competitors might also try to snag some of your employees, and not just for their work ethic. Employees may save their own copies of documents that they think will be helpful in their new workspace; in doing so, they can unwittingly aid your competitor with much more than their skillset. Again, reminding your employees that all work documents are both confidential and property of your brand can cut down on accidental data theft in this category.

Non-Compete agreements and NDAs can also prevent this kind of theft, intentional or otherwise; if an employee chooses to leave your business, making sure they are aware of their contractual obligations is key. Perhaps the worst competitor you can have is a former employee who launches their own business in your field, though, and this is a situation in which data theft can be intellectual. Once again, Non-Competes and NDAs are helpful in mitigating damage in this context.

Finally, angry employees can find themselves doing a myriad of dumb (and harmful) things, up to and including data theft.

As mentioned earlier, early prevention is the best way to keep your data on your servers and out of your departing employees hands. Restricting employee access to files and folders can limit the number of possible breaches, and the aforementioned Non-Compete and Nondisclosure agreements are absolutely crucial in any business that deals in datajust make sure youre discussing the terms of those agreements with employees as they come and go.

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Threatened rattlesnakes’ inbreeding makes species more resistant to bad mutations – The Ohio State University News

Tuesday, October 5th, 2021

The first look at a threatened rattlesnake species recent genetic history suggests that inbreeding necessitated by limited habitat may not be as detrimental as theory would predict it to be.

In fact, scientists speculate that Eastern massasauga rattlesnakes may have pre-adapted to living in small, isolated populations where the most dangerous genetic mutations that arose could be easily exposed and purged.

Researchers sequenced the genomes of 90 Eastern massasauga rattlesnakes, which were listed as threatened under the Endangered Species Act in 2016 because of loss and fragmentation of their wetland habitat. For comparison, the researchers also sequenced 10 genomes of a close relative, the Western massasauga rattlesnake, a common species with no limitations on breeding opportunities and large populations.

The Ohio State University team found that the most potentially damaging gene mutations were less abundant in the Eastern than the Western species. This finding suggests the breeding limitations of small, isolated populations might be accompanied by an evolutionary advantage of being able to elbow out genetic variants that get in the way of survival, saidH. Lisle Gibbs, professor of evolution, ecology and organismal biology at Ohio State and senior author of the study.

This is something that has been reported very recently in other endangered species, but its the first time its been shown in a reptile, Gibbs said. We always worry about genetics and the loss of variation and what it means to be in a small population in which theres lots of inbreeding. At least in this species, maybe its not such a big deal.

From a conservation perspective, perhaps we can downplay genetics and say ecology such as habitat restoration is more important.

Gibbs completed the study with Alexander Ochoa, a former postdoctoral researcher at Ohio State who is now a postdoctoral scholar at the University of Central Florida. The research is published in the journal Molecular Ecology.

Eastern massasauga rattlesnakes live in isolated spaces in midwestern and eastern North America, and evolutionary theory posits that the inevitable inbreeding in such populations threatens species with extinction as genetic mutations accumulate. The smallest populations might reach 30 snakes, but Ohios Killdeer Plains Wildlife Area is home to one of the most genetically diverse and largest populations in the country, numbering in the thousands.

Gibbs has studied Eastern massasaugas for over two decades and, as director of the Ohio Biodiversity Conservation Partnership, advises the Ohio Department of Natural Resources on management of the species.

Through years and years of study, we know that most populations are isolated, like little natural zoos scattered throughout the landscape, Gibbs said. Due to habitat degradation, weve known they show little variation but weve never actually looked at variation in genes that code for things that matter to a rattlesnake.

Only recently has it been possible to apply the research techniques perfected with the human genome to work with this species. Gibbs and Ochoa zeroed in on identifying mutations in genes that may affect survival and reproduction to gauge how hazardous inbreeding might be to Eastern massasaugas.

Though a higher overall number of potentially deleterious mutations were found in the common Western massasaugas, that didnt translate to more threats to their survival because most troublesome gene copies were offset by protective copies. That can happen only in heterozygotes, which have two different copies, or alleles, of a particular gene one inherited from each parent. Because of generations of inbreeding, Eastern massasaugas are much more likely to have two copies of the same allele.

Thats why inbreeding has impacts because thats when you get two bad alleles showing up together, with no good allele to compensate, so there is a negative effect, Gibbs said. Theres more inbreeding, so overall you get more mostly bad mutations together, but the really bad ones, because theyre exposed, are also eliminated at a much greater rate.

Through another analytical technique comparing the narrowing of the Eastern and Western massasauga genetic makeup over several hundred years, Gibbs and Ochoa confirmed the impact human activity has had on the Eastern massasaugas swampy habitat. Unlike the Eastern species, Western massasaugas live in grassy and woodland regions of the south-central United States that are less densely populated by humans.

We looked at what has happened in these snakes and their population sizes over the last 300 years, which is when humans have been tromping all over North America, impacting the landscape, Gibbs said. The impacts in terms of reducing population sizes are greater in Eastern than in Western massasaugas over this period.

The findings could influence management decisions. A common conservation practice would involve introducing snakes from a more genetically diverse population into a highly isolated group to counter the effects of inbreeding. But it turns out the Eastern massasauga might benefit more from preservation of its habitat while the genetics takes care of itself.

This counterintuitive result makes us rethink what living in a small population is, and whether genetic problems are as important as we think they are, Gibbs said. This is certainly not to say living in a small population isnt bad it just may be that the genetic effects are not as bad as we thought.

This work was supported by the State Wildlife Grants Program administered jointly by the U.S. Fish and Wildlife Service and the Ohio Division of Wildlife, with funds provided by the Ohio Biodiversity Conservation Partnership between Ohio State and the Ohio Division of Wildlife, as well as the National Science Foundation.

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Opportunities in the Animal Genetics Market to 2026: Asia Pacific Set to Witness Rapid Growth in – GlobeNewswire

Tuesday, October 5th, 2021

Dublin, Sept. 30, 2021 (GLOBE NEWSWIRE) -- The "Global Animal Genetics Market Research Report: Forecast (2021-2026)" report has been added to ResearchAndMarkets.com's offering.

The global animal genetics market is likely to grow at a CAGR of 6.4% in the forecast period of 2021-26 due to the surging advancements in continuous genetic alteration practices resulting in the growing production of animals with modified breeds and massive investments by numerous end-user industries. Animal producers are gaining huge milk & meat production by leveraging the technology of animal genetic alterations. With the help of strategic breeding, farmers can yield more substantial gains, which shall expand the end-user base and the overall market growth.

Based on the Animal Type, the Poultry segment registered the fastest market growth. It accounted for higher than USD 1.4 billion in recent years and is likely to continue the pace. The prominent factors for the market growth are the rise in the requirement for better quality food products, like meat, eggs & milk, and the flooding population & urbanization across regions. Hence, it shall continue to propel the demand and attain the fastest market growth in the forecast period.

Based on the Animal Type, the Canine segment in the animal genetics market shall attain the largest market share in the forecast years. It owes to the rapidly increasing research for high-quality breeding among dogs. Furthermore, the genetic research on canines is expanding the discovery of diverse genes implicating in the size, personality traits, and fur color. These factors are leading to the exponential demand for animal genetics to enhance the overall market share., states the author in their research report, "Global Animal Genetics Market Analysis, 2021."

Various microeconomic and macroeconomic characters are burgeoning exponential extensions for the APAC market. Factors like high population density and urban sprawl are enduring the demands of food producers to satisfy nutritional needs by increasing livestock production. Moreover, the animal healthcare ecosystem has been on a constant development path and is creating several opportunities for market leaders to bring effective testing procedures.

The Global Animal Genetics Market has a vast opportunity due to the constant launches and developments of new products and strategies. Various companies adopt these practices to extend their brand and product globally in the animal genetics industry.

With the swiftly surging population, their main objective is to meet the growing demands of different people. Moreover, producers operating in the market adopted different approaches of product innovation to cater to the rapidly changing customer demands.

Key Questions Answered in the Market Research Report:1. What are the overall market statistics or market estimates (Market Overview, Market Size- By Value, Forecast Numbers, Market Segmentation, Market Shares) of the Global Animal Genetics Market?2. What is the region-wise industry size, growth drivers, and challenges?3. What are the key innovations, opportunities, current & future trends, and regulations in the Global Animal Genetics Market?4. Who are the key competitors, their key strengths & weaknesses, and how do they perform in the Global Animal Genetics Market based on the competitive benchmarking matrix?5. What are the key results derived from the market surveys conducted during the Global Animal Genetics Market study?

Key Topics Covered:

1. Introduction

2. Preface

3. Executive Summary

4. Impact of COVID-19 on Global Animal Genetics Market

5. Global Animal Genetics Market Trends & Insights

6. Global Animal Genetics Market Dynamics

7. Global Animal Genetics Market Hotspots & Opportunities

8. Global Animal Genetics Market Regulations & Policy

9. Global Animal Genetics Market Outlook, 2016- 2026F

10. North America Animal Genetics Market Outlook, 2016-2026F

11. South America Animal Genetics Market Outlook, 2016-2026F

12. Europe Animal Genetics Market Outlook, 2016-2026F

13. Middle East & Africa Animal Genetics Market Outlook, 2016-2026F

14. Asia Pacific Animal Genetics Market Outlook, 2016-2026F

15. Key Strategic Imperatives for Success and Growth

16. Competition Outlook

Companies Mentioned

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

About ResearchAndMarkets.comResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends.

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The Jackson Laboratory appoints Dr. Lon Cardon as its next president and chief executive officer – Yahoo Finance

Tuesday, October 5th, 2021

Lon Cardon, Ph.D., FMedSci

The Jackson Laboratory, an independent, nonprofit biomedical research institution, today announced the appointment of Lon Cardon, Ph.D., FMedSci, a pioneer in human genetics and drug discovery, as its next president and chief executive officer.

Bar Harbor, Maine, Oct. 04, 2021 (GLOBE NEWSWIRE) -- The Jackson Laboratory, an independent, nonprofit biomedical research institution, today announced the appointment of Lon Cardon, Ph.D., FMedSci, a pioneer in human genetics and drug discovery, as its next president and chief executive officer. Effective on November 29, Cardon will succeed current President and CEO Edison Liu, M.D., who will step down after a decade of leadership. Liu will continue to serve as a JAX professor studying the functional genomics of cancer with a focus on breast cancer.

After ten years of steering JAX through impressive expansion, dramatic change and remarkable achievements, Ed has made an indelible impact at JAX as a leader, researcher, and oncologist in our local communities and within the global biomedical research field, said David Roux, chairman of The Jackson Laboratory Board of Trustees. We are now thrilled to appoint Lon as the next president and CEO of JAX. Under his leadership, Lon will guide the Laboratory as it propels into its next intense period of growth.

Timothy Dattels, vice chairman of The Jackson Laboratory Board of Trustees and chair of the Presidential Search Committee added, As both an accomplished academic researcher as well as a demonstrated successful leader in both pharma and biotech, Lon is extremely well-suited to shape the vision, impact and strategic direction of The Jackson Laboratory over the next decade.

In his new role, Cardon will develop and drive a clear, integrated strategy for the Laboratorys continued long-term success, leveraging the unique and powerful interplay of JAXs deep expertise in mammalian genetics and human genomics combined with the latest advances in digital technologies such as artificial intelligence, machine learning and new computation platforms as well as its research, educational and business strengths.

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For many years there has been immense promise to translate human genetics and genomics discoveries into new diagnostics, prognostics and treatments for both common and rare diseases, said Cardon. Many of the foundational pieces are finally coming into place. The next step is to put them together to begin to realize this promise.

The Jackson Laboratory has a unique combination of critical components to finally approach the long-awaited potential of genetics for translation, coupling deep understanding of mouse models of human disease with extensive genetic and genomics expertise, large-scale research capacity, and computational and data analytics to bring it all together. I am excited to lead the organization to help shape a new era for human health where understanding all of our unique genomes will help to predict, treat and modify the course of disease.

Cardon joined BioMarin in September 2017 as chief scientific officer and senior vice president and was promoted in 2019 to chief scientific strategy officer to enrich BioMarins pipeline. Before joining BioMarin, he was a senior vice president at GlaxoSmithKline, leading departments and divisions spanning genetics, molecular biology, computational biology, statistics and epidemiology, and ultimately leading an early-to-late pipeline division called Alternative Discovery and Development. Prior to Cardons 14-year tenure in industry, he spent the first half of his career as a senior academic in the United Kingdom and United States, initially as professor of Bioinformatics at the University of Oxford and then as professor of Biostatistics at the University of Washington and co-chair of the Herbold Bioinformatics Program at the Fred Hutchinson Cancer Research Center.

Cardon received his Ph.D. from the University of Colorado and conducted his postdoctoral research in the Department of Mathematics at Stanford University. He has been awarded a Wellcome Trust Principal Fellowship and is an elected Fellow of the U.K.s Academy of Medical Sciences and the American Association for the Advancement of Science.

Cardon has authored more than 225 scientific publications and 15 books and chapters, mainly focused on genetics methodology, applications and discoveries for rare and common diseases, ranging from Huntingtons disease to dyslexia. He is an elected Fellow of the UKs Academy of Medical Sciences and the American Association for the Advancement of Science.

About The Jackson Laboratory

The Jackson Laboratory is an independent, nonprofit biomedical research institution with more than 2,400 employees. Headquartered in Bar Harbor, Maine, it has a National Cancer Institute-designated Cancer Center, a genomic medicine institute in Farmington, Conn., and facilities in Ellsworth and Augusta, Maine, in Sacramento, Calif., and Shanghai, China and a joint venture in Beijing. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.

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Genetic discrimination: The next great health battle likely to wash up on NZ shores – Newstalk ZB

Tuesday, October 5th, 2021

Theres growing concern about genetic discrimination in New Zealand and the lack of Government intervention in this fast-moving field.

As genetictesting becomes more accessible than ever before, there are calls for a line in the sand to be drawn and a final answer toaquestionnot yet canvassed: should insurers be able to use our geneticinformation?

Genetic discrimination is using someones genetic information to discriminate against them to treat them in a way thats different to someone else because we know something about their genetics.

Currently,lifeand health insurance companies in New Zealand are allowed to use thisdatain determining coverand premiumsfor applicants something experts sayanecdotalevidence suggest hasledto increased premiums, or no cover at all.

While insurers may argue it's their right to know a person's medical history researchers say genetics is, in fact, not a part of one's history, but a part of their future.

There are a lot of complexities in determining someone's genetic makeup and whether they are prone to getting a disease later in life.

There are also ways to mitigate and change the outcome of a patient's health once becoming privy to this information. For example, getting a mastectomywill drastically limit the chances of getting breast cancer, but there are fears an insurer may refuse cover based on a positive BRCA gene test regardless.

University ofOtago law and bioethics lecturerDr Jeanne Snellingsaysif people do have the test,and its positive, they can do things tominimisedevelopment of the disease.

They can undergo surveillance, get prophylactic preventative treatment and their risk could be quite similar to someone elses in the end. But, the insurance company is taking this absolutist approach saying that a positive test disqualifies you from obtaining life insurance cover.

There aredoubts about whether an insurance company would have staff with the expertise on hand to dissect someones genetic information.

University of Aucklands Faculty of Medical and Health Sciences Professor Andrew Shelling says it usually takes acastofspecialists to trawl through the data of an entire persons genome.

Good luck to the insurance company if they can find something, let us know. Because we have an entire team of experts from the clinicians to thebioinformaticiansto the geneticists who sit in a multi-disciplinary clinic each week trying to discuss the outcomes of what theyre looking at.

Based on the increased complexity of genetic testing nowadays, there is also a risk of getting it wrong if you dont have the right expertise. Hesaid.

There'salsoconcernpeople will not opt for undergoing genetic testing purely based on the fact it could be used by insurers -- and thus, miss out on the opportunity to decreasefuturehealth risks.

Despite the life-saving prevention available through genetic testing, experts say people avoiditand research because they are afraid of insurance discrimination.

This not only limits what a person can do to better their health in future -- but stunts medical research, particularly in minority groups like Mori and Pasifika, whose genetics are an even greater enigma to researchers than Pakeha.

Professor Shelling says we know that Mori have been discriminated against for years and this may be another form of it.

We base a lot of our genetics on European DNA, so for our Mori and Pasific people we dont always know what their results mean in a clinical setting.

We have an extra responsibility as genomic scientists to support Mori and Pasific getting genetic testing and make sure they dont get further discriminated against.

In a lot of our research studies around New Zealand, we are trying to increase the number of Mori and Pasific participants.

He fears if they have any concerns about insurance, theyllturn away from being part of these studies.

It's a conflict Jane Tiller anethical, legal and social advisor for Public Health Genomics at Melbournes Monash University --has battled for five years in Australia where a moratorium's been put in place to try and curb the issue.

Now, in Australia, you can get life insurance up to $500,000. If you try and take out more, you have to then disclose your genetic test results. she said.

She says the moratoriums a good step towards consumer protection but its a fraught approach.

"It goes up to certain financial limits and is only five years. So, we dont know what will happen in 2024 when it ends.

We are still gathering data about how its [the moratorium]working. Were remaining concerned about the lack of Government regulations on this issue.We would like to see a complete ban, like in Canada.

The moratorium isalso self-regulated by the insurance industry.

Self-regulation has been shown to be conflicted and problematic, both in Australia and New Zealand.

Theres very little transparency on how insurance companies use this data.Because this is self-regulated, theres a lot of questions around how decisions are made and what data is relied on.

The newly formed AGenDA (Against Genomic Discrimination Aotearoa) group, is lobbying for Government attention on this issue.

AGenDasmessage is that genetic discrimination is not only aconsumer protection issue, but a human rights issue.

Theysay itsnot just about making sure insurers get the information they need todiscriminate; its about stopping them from discriminatingaltogether. Its about ensuring consumers can make decisions about healthcare and learn empowering information without fear of discrimination for themselves or their family members.

They say thesectorhas come to presume divulgence -- an expectation thats been born of our insurance industry over many years.

The Financial Services Councils Richard Kiplin says its not something companies will ask for but if a client has information, it's only fair that they disclose it.

Within the New Zealand sector organisation by organisation will make their own calls. he said.

Whats important for New Zealand consumers to understand is that this is a complex area, and life companies need to assess risk and theyll do that in an appropriate way.

Genetic testing,at this point of time, is not a standard part of that -- but thats obviously evolving and moving very fast.

I think if people have had a genetic test and have information then they know information that a life and health company would want to understand. And so thats a part of the disclosure process.

Kiplin says hes open to working with researchers and other parties in future to solidify guidelines around genetic testing.

We have a robust committee structure thats been looking at some of these issues and reviewing guidelines.

The sector is never static, theres always stuff you can change and this is one of the big areas of the future.Hesaid.

AGenDAis alsoconcerned at the lack of Government intervention.

The Minister of Commerce and Consumer Affairs David Clark points towards the Ministry of Business, Innovation and Employment's Insurance Law Review.

"Insurer use of genetic testing results is one of many issues raised with MBIE during the course of the review, but it was not highlighted as a significant issue in the submissions (it was mentioned in two out of around 500 submissions received). Hesaid.

Clark mirrors the industrys openness to work with experts to understand the situation better.

Im told, the industryhavepreviously told my officials they are not seeing high levels of genetic testing, but I am open to further briefings on the matter.

The MBIEreview was promptedto ensure New Zealands insurance contract law is facilitating insurance markets that work well and enable individuals and businesses to effectively protect themselves against risk.

In November 2019 the Government agreed tothereform which includesmaking sure insurers ask consumers the right questions, the requirement for policies to be written and presented clearly, strengthening protection for consumers against unfair terms and extending powers to the Financial Markets Authority to monitor and enforce compliance.

Next steps for the review include release of an exposure draft Bill for consultation in late-2021.

Genetic testing has been described asa quantum leap for healthcare. A new kind ofapparatuswe can use to decode our future health.

In July 2021,the World Health Organization (WHO) provided the first global recommendations to help establish human genome editing as a tool for public health, with an emphasis on safety, effectiveness and ethics.

While their concerns are mainly based around the use of genetics to edit our DNA --WHO Director-General,Dr Tedros Adhanom Ghebreyesus, recognisedgenome editing and testing as a potential to advance our ability to treat and cure disease.

"But the full impact will only be realized if we deploy it for the benefit of all people, instead of fueling more health inequity between and within countries,Hesaid.

In September, the WHOrecommended DNA testing as a first-choice screening method for cervical cancer prevention.

It recognised DNA-based testing for human papillomavirus (HPV) has been shown to be more effective than todays commonly used screening methods aimed at detecting and preventing cervical cancer, a major cause of death among women worldwide.

Asgenetictestingbecomesmore mainstream,as the technologies mature,and as testsbecome moreprecise and affordable-- it evolves from being aniche offering tobecomingilluminatedon healthcarescentrestage.

And whilegenetictesting is applauded for its potential to become a part of our everyday health toolbox one question remains:should insurers be able to use our genetic information?

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Sarepta Therapeutics Opens Genetic Therapies Center of Excellence in Columbus, Ohio – Yahoo Finance

Tuesday, October 5th, 2021

Sareptas Genetic Therapies Center of Excellence Building Exterior

The new, state-of-the-art research facility encompasses 85,000 square feet and significantly expands Sareptas global research and development capabilities.

Sareptas Chief Scientific Officer Louise Rodino-Klapac and CEO Doug Ingram were joined by distinguished guests including The Honorable JON HUSTED, Lieutenant Governor, State of Ohio; EDDIE PAULINE, President & CEO, BioOhio; JESSICA EVANS, Psy.D., Assistant Director, Speak Foundation; PAT FURLONG, President & CEO, Parent Project Muscular Dystrophy; and representatives from state and local government.

Center dedicated to research and development activities to advance Sareptas industry-leading, multi-platform pipeline

The Center encompasses 85,000 square feet of space, tripling Sareptas footprint in Ohio

CAMBRIDGE, Mass., Oct. 04, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today celebrated the grand opening of the Genetic Therapies Center of Excellence (GTCOE), its new research facility in Columbus, Ohio.

The 85,000 square foot state-of-the-art facility expands Sareptas research and development capabilities and footprint, which includes sites in Cambridge, Andover and Burlington, Mass. With more than 70 employees today and plans to double the number of employees by the end of 2022, the Center is focused on discovery, pre-clinical and clinical development supporting Sareptas pipeline of genetic medicines which includes RNA, gene therapy and gene editing programs. The Center also supports process development and optimization work that enables the transition from clinical-scale to commercial-scale manufacturing, a critical task facing companies developing gene therapies.

Advances in the science of genetic medicine are creating incredible opportunities to develop medicines with the potential to transform the lives of people with rare diseases. Sareptas Genetic Therapies Center of Excellence complements and enhances our existing research and development expertise and will play a central and strategic role in our future as the leader in precision genetic medicine, said Doug Ingram, president and chief executive officer, Sarepta.

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Among the guests joining the Sarepta team today for a dedication, ribbon-cutting ceremony and facility tours: The Honorable Jon Husted, Ohios Lieutenant Governor; Pat Furlong, president and chief executive officer, Parent Project Muscular Dystrophy (PPMD); Jessica Evans, assistant director, The Speak Foundation; local officials; and luminaries from Columbus growing biotechnology sector. At the event, Sarepta also announced a $20,000 donation to the Ronald McDonald House Charities of Central Ohio, with Dee Anders, chief executive officer and executive director, Ronald McDonald House Charities of Central Ohio, present to accept.

Sarepta has operated in Columbus since 2018 and were proud to be at the forefront of Columbus emergence as a leading hub for biotechnology committed to the local community and the patients and families we serve, said Louise Rodino-Klapac, Ph.D., Sareptas Columbus-based executive vice president and chief scientific officer. Our growing presence in Ohio will help us strengthen our close working relationships with long-standing local partners such as Nationwide Childrens Hospital, while we work with the greatest urgency to advance our pipeline, further the science of genetic medicine and create an environment where future generations of scientific talent will thrive.

Sarepta Therapeutics decision to expand in Ohio is the latest example that Ohio is a great state to grow a business, said Lt. Governor Jon Husted. When we created the Columbus Innovation District last year, we were focused on cultivating the right environment in central Ohio to attract new investments and jobs in gene and cell therapy. This new facility is a victory, as it builds on our strategy, creating jobs and producing some of the most advanced research and development of precision genetic medicine, further solidifying Ohio as a leader in gene therapy.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website at http://www.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Forward-Looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding potential opportunities in the rare disease space; the potential transformative benefits of medicines in the rare disease space; our plans to double the number of employees in Columbus, Ohio by the end of 2022; and the potential for our growing presence in Ohio to help strengthen our close working relationships with long-standing local partners while we work with the greatest urgency to advance our pipeline, further the science of genetic medicine and create an environment where future generations of scientific talent will thrive.

These forward-looking statements involve risks and uncertainties that may cause actual results to differ materially from those expressed or implied in the forward-looking statements. Many of these risks and uncertainties are beyond our control. Known risk factors include, among others: we may not be able to execute on our business plans and goals, including meeting our expected or planned regulatory milestones and timelines, clinical development plans, and bringing our product candidates to market, due to a variety of reasons, many of which are outside of our control, including possible limitations on company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover our product candidates; the impact of the COVID-19 pandemic; and those risks identified under the heading Risk Factors in our most recent Annual Report on Form 10-K for the year ended December 31, 2020, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings we make, which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties we face, we encourage you to review our SEC filings. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. We undertake no obligation to update forward-looking statements based on events or circumstances after the date of this press release, except as required by law.

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052iestepan@sarepta.com

Media Contact: Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Supreme Court issues notice to government on admission to Medical Genetics courses – The Hindu

Tuesday, October 5th, 2021

The Supreme Court on Friday sought a response from the government on a plea challenging a notification for NEET-Super Specialities (NEET-SS) 2021 in August allowing postgraduates from a broad spectrum of medical disciplines to apply for Doctorate of Medicine (Medical Genetics) and Doctorate of National Board in Medical Genetics courses.

A Bench of Justices D.Y. Chandrachud and B.V. Nagarathna issued notice and listed the case for hearing after two weeks.

The order was passed on a petition filed by the Society of Indian Academy of Medical Genetics, which challenged the validity of the information bulletin published by the National Board of Examinations on August 31.

The society argued that the bulletin contradicted the guidelines prescribed by the National Medical Commission that only aspirants from Medicine, Paediatrics and Obstetrics could apply for the Medical Genetics courses concerned.

The petition noted that elite medical institutes such as the AIIMS restricted admissions to the Medical Genetics courses to these three streams.

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‘Forest Genetics and the Tree of Life’: Local forester to speak at Weldon Baptist about God, living things – The Daily Herald

Tuesday, October 5th, 2021

Forester Bradley W. Antill will be a guest speaker at Weldon Baptist Church on Wednesday to discuss the subject Forest Genetics and the Tree of Life.

Born in Norton, Ohio, Antill said he moved to Shallotte to take up a forestry job with the Federal Paperboard. He then moved to Henrico in 1997 for a job with the Coastal Lumber Company in Weldon, which has since changed its name in 2004 to Coastal Timberlands Company.

According to a press release, Antill will discuss how trees are the lifeblood of the local forest industries.

Actually, our very life depends on a specific tree and what we do with it, Antill wrote as an excerpt in the press release. The forest industry has always been at the forefront of genetic research, including cloning; trying to get the best tree to grow. But only one specific tree can claim to be the source of eternal life, the Tree of Life.

The Rev. Francis Kyle, the new pastor at Weldon Baptist, said they are excited to hear Antill speak on the interlaced topics he is knowledgeable and passionate about.

Those intertwining topics are land, trees, people and the God of the Bible who created the land and trees on the third day of creation by merely speaking them into existence Genesis 1:9-13, and created male and female in His image on the sixth day Genesis 1:26-27, Kyle said. And, of course, the Lord Jesus Christ, the financially poor Jewish carpenter from Nazareth yet who simultaneously and supernaturally was also the unselfish and sinless Son of God who lovingly sacrificed Himself for us selfish sinners on an old rugged wooden cross at Calvary in Jerusalem. Brad is a shining and inspiring example of intentionally living to the glory of God in ones workplace.

When asked if his discussion will combine science and religion, Antill disagreed.

I use Creation, the things I see every day in the outdoors, to relate to the Creator, he said. Romans Chapter 1, clearly states that Gods creation is one of the ways God reveals himself, to teach us about who he is. The Bible is his guidebook.

Many in the modern world may prefer to separate science from religion, while others consider creation science instead, which is the teaching and research based upon the belief that biblical accounts of the creation of the world and universe are scientific facts.

Antill also disagreed that science and faith are polar opposites since science only exists because God created the universe and placed physical laws upon which science rests.

What I do is take various elements of forestry, trapping, hunting, fishing and history to illustrate a biblical truth, he said. Man has been searching for a special tree since he was kicked out of the Garden of Eden. So, maybe we can understand that search better by seeing how it is done in forestry.

When asked what people can expect to hear on Wednesday, Antill said his devotions and talks show that the words of the Bible can be understood by seeing the fingerprints left by God surrounding everybody.

Often it involves illustrations parables, similar to what Jesus used when he taught, he said. These everyday examples illustrate a spiritual truth or application found in the Bible. My audience may learn a little bit about forestry, but I hope they learn more about the Creator and his love for us.

Antill said he is passionate about this topic because the Creator desires everyone to understand that their lives have meaning and they were not accidents.

The first decision of consequence man had to make involved a tree, he said. The last decision of consequence a man will make will involve a tree. Lets get together and talk about both.

According to the press release, the presentation is part of Weldon Baptists new Uncommon Christian Speaker Series with a free lunch provided by the churchs Hospitality Committee. Antills outdoor-themed Christian devotional books will also be for sale at a discounted price of $7.

The event will be held from 11:30 a.m. to 1 p.m. inside the Daniel Fellowship Hall at Weldon Baptist Church, 609 Washington Ave. A question and answer session will follow at the presentation.

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My mother and I have the same mental health disorders. But is it genetic? – Broadview Magazine

Tuesday, October 5th, 2021

My grandfather was convinced that his mothers depression began with his fathers stroke. Up to that point, my mother could handle life, he said. Suddenly, she couldnt, because she couldnt do anything about my dad. But I cant help but wonder if its more complicated than that. I think about what Austin told me about the genetic vulnerabilities we all inherit, and I find it hard to believe that Elfriedes depression suddenly appeared in her 60s.

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In recent years, research has been conducted into the idea of inherited family trauma, especially in relation to descendants of survivors of the Holocaust or Indian residential schools. While these are extreme examples of a traumatic event that can affect generations, further research also suggests that inherited trauma can affect anyone.Many of us walk around with trauma symptoms we cant explain, said Mark Wolynn, author of It Didnt Start with You: How Inherited Family Trauma Shapes Who We Are and How to End the Cycle, in an interview with Psychology Today. We might have a life-long depression that feels like ours but isnt ours.

According to Wolynn, mental illness symptoms could be the result of trauma that has been inherited. One of the most obvious signs is that we can experience a sudden onset of anxiety or fear when we hit a certain age or reach a certain milestone, he says. Its as though theres an ancestral alarm clock inside us that starts ringing.

To explore my own history, I wanted to learn more about Elfriede. So I visited my grandfather in his 24th-floor apartment in the middle of the pandemic summer. We sat a couple of metres apart; I wore a mask, and I sanitized my equipment before pushing record. My grandfathers apartment overlooked Winnipegs sprawling urban elm forest. It all seemed so far removed from the stories he was telling me.

During the war, Elfriede and her sons moved out of the city to avoid the bombings and lived with their relatives on a farm. She worked as a seamstress, trading her labour for food and other necessities. Despite the challenges, my grandfather said his mother was a joyful person during this time. We were always singing when we did the dishes, he said, adding that Elfriede was always whistling and full of vigour.

However, just because Elfriede sang and whistled doesnt mean there wasnt sadness or worry around their house. There were sad times, he admitted. In his family, it was acknowledged that this was a part of life, and he recalled his mother joking to enjoy being sad. You dont have to be strong when youre sad, she would tell him. If you need to cry, just go ahead and cry.

Talking with my grandfather about mental illness, I sometimes felt as though we were communicating across a great divide. He spoke in terms of clear causes and effects. I asked him if he had ever felt depressed or anxious, and he described a time in his early 30s, when he and my grandmother were living in Whitehorse with four children under the age of six. He hesitated to use the word anxiety but told me that there were times at the end of the month when the young couple could barely afford groceries. There was a reason for me being anxious, and I think if youre anxious for a reason, you should be.

One of the most obvious signs is that we can experience a sudden onset of anxiety or fear when we hit a certain age or reach a certain milestone. Its as though theres an ancestral alarm clock inside us that starts ringing.

But its not always that cut and dried for me. Often, I have a hard time determining what is causing my anxiety, or why some days I wake up feeling depressed and others I wake up feeling fine. I think about my unexplained anxieties or depression and I wonder if these could somehow be connected to a trauma experienced by Elfriede or one of my other ancestors whose experience of mental illness I know less about.

Of course, one of the main reasons for learning about these family histories is to also figure out ways to make mental illness a less disruptive part of ones life. Although our genetics or inherited trauma may predispose us to have a full mental illness jar, as Austin puts it, she also emphasizes that there are ways to manage its contents. Strategies such as exercise, routines, healthy eating habits, a good nights sleep or the right medication can help people avoid reaching the point where their jar is overflowing.

Just a couple of years ago, my mother began cross-stitching to help increase the size of her own jar. Most of the pieces shes stitched have a minimalist style colourful text on a plain background. Shes referred to it as a form of meditation, a way to ruminate on a particular word or phrase as she pierces the fabric with the needle and draws the thread through, over and over, until its finished. Shes stitched simple words, such as love or peace, as well as profanity-laced slogans such as fuck the patriarchy.

She stitched a series of pieces at the beginning of the pandemic, the ones that I described at the start of this essay. In the weeks after we stapled the messages to the utility poles around our neighbourhood, we watched as people shared their discoveries of the cross-stitches on local Facebook pages, describing how they had brightened their day or reminded them of the good in the world.

Its been more than a year since then, and, on the whole, I think I can confidently say that my mental health has improved. My mother and I still talk about the ways we experience our mental illness and the coping mechanisms that we have developed, but these days our conversations are less about managing mental health crises and more about whether we are feeling well enough to slowly wean ourselves off our medications. At the same time, I am now aware of the family history of mental illness that will shadow me throughout my life, possibly stitched into my very DNA, and how Im more prepared than ever to take it on.

***

Isaac Wurmann is a writer based in Berlin.

This story first appeared in Broadviews Oct/Nov 2021 issue with the title My fathers nose, my mothers anxiety.

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Researchers unravel the genetic cause of a childhood disorder and a potential way to prevent it with drugs – FierceBiotech

Tuesday, October 5th, 2021

An international research team led bythe University of California, San Diego (UCSD) has identified a genetic cause for a syndrome that has stumped clinicians for many years. And thescientists saythey might be able toprevent the disease-causing mutation during pregnancy based on promising mouse studies.

The researchers identified the condition,dubbed Zaki syndrome,after doctors from around the world compared clinical notes that showed children born with it had DNA mutations in the Wnt-less, or WLS, gene. By boosting Wnt signaling with a drug in mouse models, they were able to reverse developmental disabilities caused by the disease, they reported in The New England Journal of Medicine.

Zaki is a rarecondition that hampers prenatal development ofthe eyes, brain, hands, kidneys and heart and that causes lifelong disabilities.The syndrome is named after Maha Zaki, M.D., Ph.D., at the National Research Center in Cairo, who was the first to spot it.

RELATED:Haisco to pay $140M to get the ball rolling on Biosplice's phase 3 osteoarthritis drug in China

The UCSD team, working withRady Childrens Institute for Genomic Medicine and researchers around the world,started by scouring databases of20,248 families who had children with neurodevelopmental disorders. They zeroed in on mutations in the WLS gene, which controls signaling levels for Wnt, a hormonelike protein that's involved in embryonic development. The scientists then created stem cells and mouse models of Zaki syndrome and used them to test a drug that boosts Wnt signaling.

The drug, CHIR99021, amped up Wnt signalingand restored development in the models. The mouse embryos grew body parts that had failed to develop, and their organs resumed normal growth, the scientists said.

The Wnt signaling pathway, discovered in the 1980s, has caught investor interest and is core to the missions of biotechs Surrozenand Biosplice Therapeutics, formerly known as Samumed. Biosplice's Wnt-modulating kinase inhibitor is in multiple phase 3 trials and has garnered licensing agreements in China and Korea in recent months. Meanwhile, Surrozen is targeting Wnt in designing regenerative medicines for diseases in the eye, lung, kidney and a host of other areas. Phase 1 studies are slatedfor next year, and the biotech hit the Nasdaq last month.

The UCSD-led team was surprised to discover that Zaki syndrome could could be prevented in preclinical models with a drug,said author Guoliang Chai, Ph.D., a former postdoctoral fellow at UCSD's School of Medicine, in a statement. Now the researchers are thinking about how to transform Zaki into an entirely preventable condition.We can see this drug, or drugs like it, eventually being used to prevent birth defects, if the babies can be diagnosed early enough.

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Researchers unravel the genetic cause of a childhood disorder and a potential way to prevent it with drugs - FierceBiotech

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Germline genetic testing can benefit all cancer patients as a routine practice in cancer care – PRNewswire

Thursday, May 27th, 2021

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of germline testing and genetic information; and that the data presented at ASCO highlight the need for increased germline testing in all cancer patients regardless of medical policy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Increasing genetic diversity in crops is important – Farm Progress

Thursday, May 27th, 2021

The loss of diversity in fields and gardens has real consequences, according to Tommy Carter, USDA professor, soybean breeding and genetics emeritus faculty, North Carolina State University. Carter explains the importance of increasing genetic diversity in crops in this Sustainable, Secure Food blog.

Modern crop varieties are often too uniform genetically speaking for good agricultural health, Carter writes. Thats because many new varieties are too closely related like cousins or siblings. This uniformity makes them less useful as breeding stock in current breeding efforts because they have lost useful genes which are still present in the landraces.

Soybean provides a good example regarding the insufficient diversity in modern varieties. Farmers domesticated soybean perhaps five thousand years ago in central China. These seeds spread through most of Asia via caravans with population migration. Adapting soybean to local conditions as soybean spread slowly over Asia, ancient farmers selected out more than 10,000 diverse varieties from domestication to the present. Many of these are now preserved by USDA and China in seed banks.

Although the thousands of old Asian soybean landraces are genetically diverse, modern U.S varieties are not. In the process of developing modern soybean varieties for U.S. farmers, the first generations of U.S. soybean breeders (~1930-1990) essentially ignored genetic diversity. They instead focused on adapting soybean for mechanical farming. Hundreds of new varieties were released to U.S. farmers in a successful endeavor to improve productivity, but these varieties were not very diverse, genetically speaking.

Today, U.S. soybean breeding programs are widely recognized as limited by insufficient genetic diversity. Breeding progress slowed, and the reasons are twofold:

Two landmark soybean USDA cultivars, Lee and Forrest, in the southern U.S. offer prime examples of this problem. They were released in the 1950s and 1970s. Their superior agronomics and popularity on the farm led to their heavy use as parental stocks for breeding during the following decades.

The result was a new generation of progeny (soybean children) that were highly related not only to the landmark varieties Lee and Forrest, but to each other as well. Although they performed well in the field, these brother and sister soybeans were not good mating stock for producing new varieties. The term inbreeding is often used to describe this effect in animal breeding, and the term applies here as well.

Short-term gains made in developing Lee and Forrest, thus, came at the expense of long-term progress. Diversity, the basis for new progress, was lost. But a new plan from the USDA-ARS, known as the 301 Plan, has the goal to restore diversity to applied breeding programs. Science in the 301 Plan results in new, unique breeding lines which have diverse pedigrees and genetics.

A new release of soybean USDA-N6004 is part of that effort. When new varieties of plants are certified by the USDA, they receive an official registration number. Some breeders then choose to name their variety with a more common name, such as Lee and Forrest soybean mentioned. Breeders created USDA-N6004 soybean by hybridizing of USDA cultivar NC-Roy and Japanese cultivar Blue Side. Blue Side is a vegetable (edamame) soybean that comes from outside the U.S.s genetic base. Japanese germplasm generally is not well represented as parental stock in U.S. breeding. Thus, Japan appears to be a rich untapped source of diverse genes for future U.S. soybean breeding.

Source: Sustainable, Secure Food blog written by members of the American Society of Agronomy and Crop Science Society of America, which is solely responsible for the information provided and is wholly owned by the source. Informa Business Media and all its subsidiaries are not responsible for any of the content contained in this information asset.

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Atlas of Cocaines Effects on Gene Expression Mapped at Single-Cell Level in Fruit Fly Brain – Genetic Engineering & Biotechnology News

Thursday, May 27th, 2021

Scientists at the Clemson University Center for Human Genetics used single cell transcriptomics technology to identify how acute cocaine exposure affects specific cell clusters in the brain of the common fruit fly, Drosophila melanogaster. The studies, headed by geneticists Trudy Mackay, PhD, and Robert Anholt, PhD, found that cocaine use by the fruit flies elicited rapid, widespread changes in gene expression throughout the brain, and that the differences were more pronounced in males than in females. The investigators hope that the resulting atlas of sexually dimorphic cocaine-modulated gene expression could potentially lay the groundwork for developing drugs that would treat or prevent cocaine addiction in humans.

This research identifies the regions of the brain which are important, said Mackay, the Self Family Endowed Chair in Human Genetics. Now, we can see what genes are expressed when exposed to cocaine and whether there are Federal Drug Administration-approved drugs that could be tested, perhaps first in the fly model. Weve already spotted several of these genes. This is a baseline. We can now leverage this work to understand potential therapy.

Mackay, Anholt and colleagues report on their findings in Genome Research, in a paper titled, The Drosophila brain on cocaine at single cell resolution.

The propensity for cocaine use depends on both genetic and environmental factors, making it hard to study. And while the neurological effects of the drug are well known, scientists know much less about how gene variation may impact on sensitivity to the drugs effects. Furthermore, little is known about acute effects of cocaine consumption on genome-wide gene expression across the brain, they continued.

The fruit fly Drosophila melanogaster is a useful model for systems genetic analysis of cocaine consumption. The majority of the fruit fly genes have human counterparts, providing researchers with a comparable model when studying complex genetic traits. Flies can be reared rapidly in large numbers at low cost in defined genetic backgrounds and under controlled environmental conditions, and about 75% of disease-causing genes in humans have fly orthologs, the team pointed out.

Fruit flies exposed to cocaine showed impaired locomotor activity and increased seizures and, as the authors explained, exposure to cocaine also elicits motor responses in the fruit fly that resemble behaviors observed in rodents. flies in addition develop sensitization to repeated intermittent exposure to cocaine.

For their reported studies, the investigators allowed male and female flies to ingest a fixed amount of sucrose or sucrose supplemented with cocaine, over no more than two hours. Observation of the flies behavior after cocaine ingestion showed evidence that the drug exposure resulted in physiological and behavioral effects, including seizures and compulsive grooming.

To assess the effects of cocaine consumption on gene expression in the brain, the researchers dissected the fly brains into single cells. Using next-generation RNA sequencing technology they were able to make libraries of the expressed genes for individual cells.

To identify specific cell populations that respond to acute cocaine exposure, we analyzed single cell transcriptional responses in duplicate samples of flies that consumed fixed amounts of sucrose or sucrose supplemented with cocaine, in both sexes, the scientists explained. The single-cell technique is ultra-powerful and offers advantages over standard gene expression profile studies. If an entire brain is used and theres heterogeneity of gene expression, such that its up in one cell and down in another, you dont see any signal, Mackay commented. But with the single cell analysis, were able to capture those very, very fine details that reflect heterogeneity in gene expression among different cell types. It is very exciting to apply this advanced technology here at the CHG.

The investigators looked at 88,991 cells, with each cell having thousands of transcripts. Through sophisticated statistical analysis, the researchers were able to categorize the cells into 36 distinct cell clusters. Annotation of clusters based on their gene markers revealed that all major cell typesneuronal and glialas well as neurotransmitter types from most brain regions, including mushroom bodies, were represented. The study results showed that all types of fly brain cells were affected, especially Kenyon cells in the fly brains mushroom bodies, and some glia cells. Mushroom bodies, which get their name because they look like a pair of mushrooms, are integrative brain centers that are associated with experience-dependent behavioral modifications.

Interestingly, the study highlighted extensive sexual dimorphism in the response to cocaine. We found the effects of cocaine in the brain are very widespread, and there are distinct differences between males and females, added Anholt, Provosts Distinguished Professor of Genetics and Biochemistry. The investigators further stated, although cocaine-modulated changes in gene expression are widespread throughout the brain in both sexes, specific changes in transcript abundances are distinct between males and females We identified 691 differentially expressed genes in males and 322 in females following acute exposure to cocaine, of which ~69% have human orthologs. The scientists say the observed sexual dimorphism is in line with previous studies that showed reduced locomotion and increased grooming in flies given low doses of cocaine, with males showing more profound effects than femails.

The collective results of the teams analyses were used to generate what they say is an atlas of sexually dimorphic cocaine-modulated gene expression in a model brain. Ahnolt said its hoped that the atlas will serve as a resource for the research community.

functional parallels between the fly model and human studies provide proof of principle that results from cocaine exposure obtained from the fly model can be translated to human populations, the investigators stated. Thus, the comprehensive documentation of cocaine mediated modulation of gene expression which we have derived can serve as a contextual framework for future human studies.

Mackay is one of the worlds leading authorities on the genetics of complex traits. She has a longstanding interest in behavioral genetics and developing the fruit fly as a model for understanding the genetic basis of complex behaviors. Her laboratory developed the Drosophila melanogaster Genetic Reference Panel (DGRP), which now consists of 1,000 inbred fly lines with fully sequenced genomes derived from a natural population. The DGRP allows researchers to use naturally occurring variation to examine genetic variants that contribute to susceptibility to various stressors.

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Atlas of Cocaines Effects on Gene Expression Mapped at Single-Cell Level in Fruit Fly Brain - Genetic Engineering & Biotechnology News

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Genetic breakthrough could save farmed salmon from flavobacteriosis – The Fish Site

Thursday, May 27th, 2021

The consortium has been exploring the genetics that determine whether fish are resistant to Flavobacterium psychrophilum a bacterium which can lead to health issues in salmon fry.

The discovery is expected to pave the way for selective breeding programmes, which could boost the health and welfare of farmed Scottish salmon by breeding new fish from parents that possess the genetic resistance markers and are, therefore, expected to display increased resistance to the bacteria.

Flavobacteriosis can be a particular threat to smaller, juvenile fish and is a widespread challenge for the aquaculture sector, with infections also reported in Chile, Norway and Canada. However, current prevention and treatment programmes are limited vaccination by injection cannot be used due to the size of the fish and, as the sector continues to move away from antibiotic treatments, a genetic breakthrough could hold the key.

The project is backed by the Sustainable Aquaculture Innovation Centre (SAIC) and led by AquaGen Scotland, with partners from the University of Stirlings Institute of Aquaculture, DawnFresh Farming and Cooke Aquaculture Scotland.

The Health and Welfare of Atlantic Salmon course

It is vital that fish farm operatives who are responsible for farmed fish are trained in their health andwelfare. This will help to ensure that fish are free from disease and suffering whilst at the same timepromote good productivity and comply with legislation.

Andrew Reeve, managing director of AquaGen, said: Continual improvements in fish health and welfare are priorities for the aquaculture industry, to which robust stock suited to the farmed environment make an important contribution. Genetic markers for disease resistance, such as those discovered through this SAIC-funded project, are valuable tools that can and will be immediately employed in breeding work.

To identify the two genetic markers, more than 4,000 fish from AquaGen were tested for more than 70,000 genetic markers using a specially designed lab-based model, which mimics the natural infection route. The next stage of the research programme is to conduct field trials at one of Cooke Aquacultures sites, using salmon eggs specifically selected by AquaGen. It is hoped that, in the event of a natural outbreak of the bacterial disease being detected, these fish can be tested to validate the effect of the genetic markers.

Heather Jones, CEO of SAIC, said: The interim results of this R&D project are highly encouraging and point towards a new, sustainable approach to tackling a common health issue reported in young salmon. One of the most valuable outputs of collaborative innovation projects is the wealth of knowledge that can be shared across the entire sector and findings like this have the power to make a big difference to fish health and welfare.

Dr Rowena Hoare, research fellow at the Institute of Aquaculture, added: Flavobacteriosis is known to be problematic for salmonid culture in freshwater globally for decades. This project has shown how fruitful it can be to combine the expertise of academic and industry researchers to address a complex and economically important disease.

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What genetic analysis reveals about the ancestry of South Africa’s Afrikaners – The Conversation CA

Thursday, May 27th, 2021

The story of human history is one of migrations over the globe and admixture the exchange of DNA between populations.

Two of the most dramatic of these migrations were slavery and European colonisation. The subsequent admixture between slaves, Europeans and indigenous populations led to the formation of new populations. One, at the southern tip of Africa, was a group that became known as Afrikaners.

Afrikaners predominantly stem from Dutch, French and German immigrants who settled in the Cape, in South Africa, during the second half of the 17th century and the first half of the 18th. Although later European immigrants were also absorbed into the population, their genetic contribution was comparatively small. Another small but significant genetic contribution came from slaves and the local, indigenous Khoekhoe and San populations. These groups were, respectively, pastoralists and hunter-gatherers and in this article we refer to them as the Khoe-San.

Ironically, despite Afrikaners admixed roots, they rose to notoriety for their draconian laws that aimed to segregate groups of people apartheid to allow discrimination against those not of European descent.

The colonisers required labourers and turned to slavery. In fact, there were more slaves than colonists at the Cape during the century preceding the abolition of the slave trade in 1807. The first 400 of these slaves arrived from West Africa in 1658. An estimated 63,000 slaves followed during the next 149 years. During the 17th and 18th centuries, most slaves came from South Asia. Slaves forcefully relocated to the Cape at the end of the 18th century predominantly came from East Africa.

People are, naturally, fascinated by their history. However, it is often poorly documented, recorded with bias, or not recorded at all. Given the central role that ethnicity played and still plays in South African politics, it would be good to have an unbiased estimate of Afrikaners genetic history. We set out to learn more about admixture in the formation of Afrikaners by looking at the genetic variation in their genomes.

Our research had six main findings. First, it confirmed the timing of admixture in the Cape. Second, it showed limited genetic contribution from southern Bantu-speakers, African farmers that colonised southern Africa from the north from about 500 AD onwards. It also confirmed the relative popularity of Indian women as wives among early colonists. It showed an unexpectedly frequent genetic contribution from the indigenous Khoekhoe and San populations and a greater West than East African genetic contribution in Afrikaners. Finally, there was a surprising lack of inbreeding.

Admixture during the formation of the Afrikaner population is recorded in genealogical sources. But these genealogies dont tell the full story, for several reasons.

Firstly, in the 17th and early 18th centuries some women used the toponym van de Kaap (meaning born at the Cape), irrespective of whether their parents were immigrants from Europe or slaves. Second, it has been suggested, but not recorded, that European farmers at the Cape had children with Khoe-San women.

Third, many of the children born in the Dutch East India Companys slave lodge had unknown European fathers. The slave lodge served as a brothel for passing sailors and other European men.

Several potentially important genetic source groups a substantial Muslim community, a small Chinese community and the local Khoe-San were not recorded because they were not Christian. And admixed couples would have been secretive about their relationships because marriages between slaves and Europeans were outlawed from 1685.

By comparing the Afrikaners in our study to 1,670 individuals from 32 populations across the world we found that 4.7% of Afrikaner DNA has a non-European origin. That may seem like a small percentage, but 98.7% of the Afrikaners were admixed.

Children whose parents are from different populations have one set of chromosomes from each population. With each generation the pairs of chromosomes one from each parent are snipped and pasted with one another; a process known as recombination. Repeated recombination results in shorter and shorter segments of DNA from the original populations.

By studying this effect, the age of the admixture was estimated to around 1681. Its around this time that colonisers began to settle at the Cape. In 1657, for instance, 142 employees of the Dutch East India Company were released from their employ to settle; 156 French Huguenots settled in 1688, and from 1675 yearly slave imports often exceeded 100 individuals. Therefore, this estimate aligns fairly well with genealogical and historical records of early colonial times at the Cape of Good Hope.

The admixture between European and Khoe-San was more common than church records suggest. In our study, though only 1.3% of Afrikaner genes came from the Khoe-San, most Afrikaners contained some Khoe-San genes.

The highest non-European contribution (1.7%) came from South Asia, or India. This reflects colonial mens stated preference for marrying freed Indian slaves during the founding years. A little less than 1% of Afrikaner genes have an East Asian (Chinese or Japanese) origin.

The contribution of West and East Africa is the lowest, at 0.8%. This is likely to stem from the almost 18,000 slaves imported from Africas west and east coasts. The fraction of genes from West Africa is slightly higher than from East Africa, reflecting the fact that while West African slaves were few, they arrived four generations before slaves from East Africa.

A common perception about Afrikaners is that they stem from very few ancestors, which would have resulted in inbreeding. Inbreeding results in long stretches of the paternal and maternal chromosomes being identical to each other. By looking at the lengths of identical stretches, it is clear that Afrikaners are as variable as the average European. This is in part due to admixture between non-Europeans and Europeans, but also because Europeans came from all over Europe.

The strongest European genetic contribution is from northwestern Europe, with the most similar population being the Swiss German population. This signal could also be interpreted as a mixture between German, Dutch and French populations as genealogical records indicate.

In conclusion, despite laws prohibiting mixed marriages from as early as 1658, and discrimination that culminated in the apartheid system, these genetic analyses confirm that most Afrikaners have admixed ancestry. Genealogical information has indicated as much, but these genetic findings are irrefutable.

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What genetic analysis reveals about the ancestry of South Africa's Afrikaners - The Conversation CA

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People with rare diseases being left behind by Irish health system – The Irish Times

Thursday, May 27th, 2021

People with rare diseases are being left behind by the Irish healthcare system, an Oireachtas committee has heard.

The joint committee on health met on Wednesday to discuss improving the lives of those affected by rare diseases and their families.

The committee heard that people with rare conditions struggle to access genetic testing and Irish patients have less access to new drugs compared to other European citizens.

Witnesses at the committee also said the health system needs to train more genetic consultants as a matter of urgency due to severe staff shortages.

A rare disease is a condition that affects less than one person in every 2,000.

According to Rare Diseases Ireland, there are roughly 300,000 people living with rare conditions in Ireland.

Vicky McGrath, CEO of Rare Diseases Ireland, said that diagnosis for people with a rare condition is often delayed for many years. Would we accept delayed diagnosis and treatment in other specialities? We all know what a delayed diagnosis for cancer patients means, yet it is accepted as normal for a rare diagnosis to take several years, she said.

Ms McGrath added 72 per cent of rare conditions are genetic in origin, but genetic testing, genetic consultation and genetic counselling is difficult to access in Ireland.

The Clinical Genetics service in Childrens Health Ireland (CHI) at Crumlin provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. This service is the sole provider to the population of Ireland.

Ms McGrath said the HSEs Review of the Clinical Genetics Medical Workforce in 2019 revealed the extent of the issue.

There are currently just three genetic consultants in position in CHI at Crumlin. The HSEs 2019 Review indicates that there should be 15. The most visible knock-on effect is growing waiting lists.

As of March 2021, there were 3,999 people on the waiting lists for clinical (medical) genetics, up from 3,052 just one year earlier; 1,392 of these are children under the age of 16.

Typically, the priority waiting list is between 15 and 18 months and routine referrals wait over two years to be seen. As of March, there were 941 people on the waiting list for over 18 months, and 657 of these were under the age of 16, said Ms McGrath.

Access to drugs is another issue. There was a report published yesterday [on Tuesday] around access to medicines. Of the 47 orphan medicines that were approved by the European Medicines Agency between 2016-2019, eight of them were available in Ireland for reimbursement.

Ninety-six per cent of them are available in Germany, 85 per cent in Denmark, 72 per cent in England; Scotland, a similar country to our own, has 47 per cent of them available. Our system is hindering access... we are being left behind.

Dr Sally Ann Lynch, consultant clinical geneticist from CHI said that in Ireland, the training programme for genetic consultants was delayed for a decade.

I set up the training scheme in the Republic, but it was blocked by the Medical Practitioners Act for about seven years, we werent allowed to set up any new training schemes. Its also very difficult to recruit from abroad... Ive been trying to get a locum and will keep trying until the day I die.

The situation in Northern Ireland is far better than in the south, according to Dr Lynch. They currently have six geneticists, who were all trained in the North. They set up a training scheme, and really supported it.

However, Ms McGrath said because the North has more services, there could be an opportunity for cross-border co-operation, to reduce waiting lists.

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works – National Science Foundation

Thursday, May 27th, 2021

Study shows link between mutations of GAS2 gene and ability to amplify incoming sound

Scientists have found a link between genetic mutations and hearing. Pictured: Cochlea in a mouse.

May 26, 2021

A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania.

The U.S. National Science Foundation-funded scientists discovered that the protein encoded by GAS2 is crucial for maintaining the structural stiffness of support cells in the inner ear that normally help amplify incoming sound waves. Their findings, published in Developmental Cell, showed that inner ear support cells lacking functional GAS2 lose their amplifier abilities, causing severe hearing impairment in mice. The researchers also identified people who have both GAS2 mutations and severe hearing loss.

"Anatomists 150 years ago took pains to draw these support cells with the details of their unique internal structures, but it's only now, with this discovery about GAS2, that we understand the importance of those structures for normal hearing," said study senior author Douglas Epstein, a geneticist at Penn Medicine.

Two to three of every 1,000 children in the United States are born with hearing loss in one or both ears. About half these cases are genetic. Although hearing aids and cochlear implants often can help, these devices seldom restore hearing to normal.

One of the main focuses of the Epstein laboratory is the study of genes that control the development and function of the inner ear -- genes that are often implicated in congenital hearing loss. The inner ear contains a complex, snail-shaped structure, the cochlea, that amplifies the vibrations from sound waves, transduces them into nerve signals, and sends those signals toward the auditory cortex of the brain.

A few years ago, Epstein's team discovered that Gas2, the mouse version of human GAS2, is switched on in embryos by another gene known to be critical for inner ear development. To determine Gas2's role in that development, the team developed a line of mice in which the gene had been knocked out of the genome.

The prevalence of hearing loss in people due to GAS2 mutations remains to be determined, but Epstein noted that this type of congenital hearing loss is an attractive target for future gene therapy.

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works - National Science Foundation

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‘Genelection’: Should We Select Children Based on Their Genetic Scores? – American Council on Science and Health

Thursday, May 27th, 2021

GWAS and Polygenic Risk Scores (PGS)

Genome-Wide Associations Studies (GWAS) employ statistical means of describing the genome. They can be used to calculate polygenic risk scores or polygenic scores (they go by both names), which can tell you how your genetic constitution compares to others. It also can predict traits, including the risk of diseases caused by multiple genetic combinations. (Heres more on GWAS and PGS).

But while your PGS can tell you that you may be at a higherriskof, say, coronary heart disease it wont tell youwhenyou might get sick or evenifyou will get sick at all. The most your PGS can tell you is yoursusceptibilityto disease. Nor does PGS factor in contributory causes like environmental insults or lifestyle, diet, or stress, which also influence disease onset.

Choice over Chance

PGS can tell you whats bad about your genome but it can also tell you whats good about it. For reproductive entrepreneurs, this translated into using these scores to select the best embryo for implantation following In Vitro Fertilization (IVF). At least one Americancompanyadvertises the technology to choose the healthiest embryo amongst the litter of recovered fertilized eggs.

It doesnt take much imagination to conjure the creation of a PGS for intelligence(some reports say it already exists and is available for the wealthy[1, 2])or aesthetics, using an algorithm for height, body-mass index, eye and hair color, skin tone, facial symmetry and Fibonacciproportionalityof features, or athleticism, including genetic markers for endurance, muscle mass, and strength. These scores would allow prospective parents to choose the embryo genetically destined to be the best looking, smartest,healthiest, or most athletic of their offspring that is, if you dont place much importance on environmental and personality factors, such as drive, discipline, resilience, and motivation. (Although at least one evolutionary geneticistclaimsthat even these factors are also genetically influenced [3])

Legally, in the United States, there is no problem using PGS to select the best embryo. Medically, it entails no additional risk to the embryo - IVF embryos are routinely screened for genetic markers that compromise gestation, anyway. So, the question remains: should this be done?

Bioethics and Beneficence

At least two noted bioethicist-scholars advocate in favor of genetic selectivity of embryos- based on an idiosyncratic reading of beneficence (the obligation of an individual to act for the benefit of another), one of the four bioethical principles offered by Beauchamp andChildress.

Julien Savulescuclaims it is a moralobligationfor prospective parents to choose the best child, meaning the most advantaged child, or at least the one with the greatest chance of having the best life, under the theory of procreative beneficence. Considerations of the future implications of such use amply depicted in fiction scenarios are ignored.For Savulescu, the concept ofwhochooses what constitutes best is unimportant. As to whether parents may be swayed by fashion, superstition, and outrageous conception of the good life, he (wrongly) claims there are legal constraints that aim to prevent the most egregious parenting choices.

Professor John Robertson holds a similar opinion invoking procreative liberty, which allows using an IVF procedure even if it increased the childs risks of injury. To Robertson, children born with these afflictions would not be harmed because the alternative future for them would be non-existence, [2] a belief that I do not share and havewrittenat length.

The Rights of the Child (Autonomy)

Autonomy, another ethical principle proffered by Beauchamp and Childress, is the right of self-determination.Those disagreeing with using PGS to select the best embryo claim the child has a right to an open future, and a parent who chooses the embryo scoring highest on one matrix might be directing the child in a direction adverse to what the child might have chosen herself.

Indeed, while parents typically chose a partner that facilitates a reproductive likelihood in a particular direction good parents dont push their offspring down a particular path (lest they spend years and big bucks on a shrinks couch undoing this primordial programming). To allow parents to choose their childs precise genetic destiny from the moment of conception trespasses on the childs right to choose what life she or he would like.

Social Justice to treat everyone equally and equitably

The third Beauchamp and Childress principle is justice, encompassing social justice. Here, the potential for societal danger conjured by the technology seems to have been ignored entirely by proponents of using PGS for embryo selection. Until these technologies can be made available to everyone, they will be the province of the rich whose children often begin life healthier by virtue of better environments, which is also said to boost intelligence scores (NB this isnotto be confused with intelligence).With plastic surgery, they are prettier. With drugs, their athletic performance is enhanced. The disparities of health outcomes from socio-economic determinants are well-studied, and the availability of this technology to the rich, when not available to all will only further expand the divide.

But even if the technology were available to all lets say to enhance intelligence, it wouldnt make one child any smarter compared to the next if she werent already destined to be.

If everyone might be genetically enhanced allwho are now smarterwould still be smarter genetically,their environments would still differ leading to the same state of affairs at least relatively speaking [4]

Non-Maleficence IVF can be dangerous

The final Beauchamp and Children ethical principle is non-maleficence do no harm. One might question using PGS at all, as it requires submitting to IVF. While IVF is a godsend to address infertility (and perhaps to select for children with certain immunological profiles to enable stem cell transplantation for sick siblings, as Ive previouslywritten), some suggest that IVF should not be routinely countenanced where infertility is not an issue as the procedure entails rare risks of its own both to mother and child-to-be, being responsible for a slight increase in birth defects among other problems(4).

Truth in Advertising and Biological Validity

Most of those in the know recognize that PGS are predictive only for populations.

We can certainly use genetics to look at statistical effects across populations, but this will give at best very fuzzy predictors for individuals.

Dr. Kevin Mitchell, geneticist [1]

Perhaps when there is only one prize being contested for, say, health, it might make sense to allow parents to choose the embryo with the probability of being healthiest (defined according to todays technology). But when we include the choice between various packages all involving probability functions no definite outcome can be predicted. How could one reasonably choose between an embryo with a 90% chance of being healthy or one with a 60% chance of being more intelligent than her siblings?

Perhaps more egregious is the failure to recognize the impact of pleiotropism, meaning that one gene has multiple effects. This consideration is important both in CRISPR gene-editing and PGS determinations.

Pleiotropisms come in two varieties, vertical and horizontal. In the first, the genetic variant under question affects one trait, say cholesterol, which in turn affects others, like the risk of heart disease. Of more concern are the horizontal variants, where one gene has multiple non-related effects. So, say you want to create a child with the least risk of mental health issues including a minimal risk of schizophrenia. Genes associated with reducedschizophreniarisk are also associated with both low and high body mass meaning if you choose against schizophrenia, you might also be selecting fora child likely to be obese. Since we arent conversant yet with the extent of genetic pleiotropisms, the unanticipated consequences of using PGS strongly cautions against its use at present.

Morality and Humanity

The magic promised by these technologies seems to have fairy-dusted the eyes of even the most intelligent.This raises the phantasm of PGS or gene-editing to cure or eliminate diseases, like schizophrenia, Lou Gehrigs disease, dyslexia, or dwarfism. How wonderful, we think, to eliminate these diseases from the face of the Earth. Perhaps not.

Had we given the parents of embryos containing markers for these diseases the chance to avoid birthing children with them, society would have been deprived of the contributions of John Nash (the Nobel prize winner in Mathematics), theoretical physicist Stephen Hawking, Carol Greider, the Nobel Laureate who discovered telomerase, and Professor Charles Steinmetz, the electrical engineering genius who boosted our capacities in electrical power systems, just to name a few who suffered from these conditions. And people who dont achieve high scores on any PGS rubric, like my friends dear daughter, would be denied existence if these scores were in common use - prevented from enriching and brightening our lives with their smiles, kindness, and their good cheer.

[1] Hannah Crichtlow,The Science of Fate,Hodder Press

[2] O. Carter Snead,What It Means to be Human, Harvard University Press

[3] Robert Plomin, Blue PrintHow DNA Makes Us Who We AreMIT Press (2018

[4]Genetically-Engineered Begots, Have-Nots, and Tinkered Tots: (High Scoring PolyGenic Kids as a Heredity-Camelot) - An Introduction to the Legalities and Bio-Ethicsof Advanced IVF and Genetic EditingSSRN.com3851431, Chicago-Kent Law Review (forthcoming) 2021

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