By combining genetic ancestry reports with existing historical documentation, The New York Times reports, 23andMe and a team of historians were able to piece together new discoveries about the transatlantic slave trade.

During the trans-Atlantic slave trade, some 12.5 million African people were abducted from their homes though only 10.7 million survived the horrific journey to be sold into slavery in the Americas. According to the Times,the new analysis is giving researchers a more complete understanding of the victims erased history, such as learning that people were kidnapped from more regions of Africa than previously thought.

For instance, the genetic study, which was published Thursday in The American Journal of Human Genetics, revealed that the slave trade was far more active in Nigeria than previously thought. The researchers were surprised by the level of Nigerian ancestry they detected in participants genetic profiles.

By combining the genetic analysis with existing historical knowledge, the NYT reports, the researchers are building a better picture of the period than with either one alone.

In a particularly grim example, the study also corroborated a disturbing level of sexual violence against enslaved people thats long been established by historians: It found that most contributions to the contemporary gene pool of the descendants of enslaved people were from enslaved women rather than men, the result of a system in which slave owners used sexual assault to force women to bear children who in turn became slaves themselves.

Alondra Nelson, a social scientist at the Institute for Advanced Study, told the NYT that the research confirms mistreatment, discrimination, sexual abuse, and violence that has persisted for generations.

But Nelson also argued that the study had shortcomings, telling the NYT that it was a missed opportunity to take the full step and really collaborate with historians.

Genetics could reveal new discoveries like the prevalence of the slave trade in Nigeria, she argued, but without a more robust historical perspective, researchers leaning too heavily on genetics may overlook important context like how borders and geopolitical structures have changed over time.

Editors note 7/27/20: This story has been updated to reflect that not all 12.5 million African people abducted during the trans-Atlantic slave trade survived the journey to the Americas.

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23andMe Releases Devastating Analysis of Trans-Atlantic Slave Trade - Futurism

Michigan State University biologist Sarah Evans has received a three-year, $1.4 million grant from the National Science Foundations Division of Environmental Biology to study the effect that droughts have on soil and the carbon cycling process a critical determinant of carbon dioxide in our atmosphere and future climate change.

Drought threatens ecosystems and crop production worldwide and will become more frequent in the future in many regions. Soils store four times more carbon than plants and animals and emit more carbon than human causes. This ability to store carbon makes soils more fertile and combats climate change by keeping carbon dioxide out of the air. Drought is likely to change storage in soils but its unclear how. The how is critical for making accurate predictions of climate change if drought causes soils to store less carbon, it could become a vicious cycle that affects both climate and agriculture, said Evans,lead investigator on the grant, which begins Sept. 1.

A cool thing about this grant is that I've been thinking about some of these ideas since my Ph.D. program, said Evans, anassistant professor who holds joint appointments in the Departments ofIntegrative BiologyandMicrobiology and Molecular Genetics in the College of Natural Science, and is anMSU Kellogg Biological Stationfaculty member. But at that time, I worked in one or two locations, and now we are sampling all over the world so we can improve carbon models

Evans and her team will study how soils respond to a lack of rainfall and hope to create predictive models to assist in sustaining ecosystems, crop production and even combatting climate change. A key element of this study is the use of an existing network of drought experiments.

As you might imagine, Evans said, its hard for scientists to perform a drought experiment you have to change the rain. But changing it experimentally is much more powerful. If you just wait around for drought, you havent controlled for other things happening that year. Besides, its hard to plan for a 100-year drought, even if they are getting more common.

The team will sample soils from experiments that create drought by covering land with a shelter. They will sample 39 sites that have created similar droughts all over the world as part of the DroughtNet Research Coordination Network and can compare the results in a standardized way.

Whats also unique about this project is that it integrates measurements and modeling, Evans said. This is crucial because scientists often say that our measurements on climate and carbon cycling will inform models that are used in things such as the Intergovernmental Panel on Climate Change, but we will collect the data and do the modeling in one proposal. How much soil carbon is going to contribute to carbon dioxide in the air is a big unknown and has the potential to alter the course of climate change.

Accurate predictions of carbon cycling and climate change will be essential for human adaptation and mitigation efforts, Evans said. This proposal will quantify a critical component to improving the accuracy of carbon models: the global response of soils to severe drought.

Grant co-investigators are Steve Allison of UC Irvine and Christine Hawkes of North Carolina State University.

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MSU researcher earns grant to study effects of droughts - MSUToday

Human Genetics Market report focused on the comprehensive analysis of current and future prospects of the Human Genetics industry. This report is a consolidation of primary and secondary research, which provides market size, share, dynamics, and forecast for various segments and sub-segments considering the macro and micro environmental factors. An in-depth analysis of past trends, future trends, demographics, technological advancements, and regulatory requirements for the Human Genetics market has been done in order to calculate the growth rates for each segment and sub-segments.

Human Genetics Market is growing at a High CAGR during the forecast period 2020-2026. The increasing interest of the individuals in this industry is that the major reason for the expansion of this market.

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QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp, GE

Various factors are responsible for the markets growth trajectory, which are studied at length in the report. In addition, the report lists down the restraints that are posing threat to the global Human Genetics market. It also gauges the bargaining power of suppliers and buyers, threat from new entrants and product substitute, and the degree of competition prevailing in the market. The influence of the latest government guidelines is also analyzed in detail in the report. It studies the Human Genetics markets trajectory between forecast periods.

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The report summarized the high revenue that has been generated across locations like, North America, Japan, Europe, Asia, and India along with the facts and figures of Human Genetics market. It focuses on the major points, which are necessary to make positive impacts on the market policies, international transactions, speculation, and supply demand in the global market.

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Table of Contents

Global Human Genetics Market Research Report 2020 2026

Chapter 1 Human Genetics Market Overview

Chapter 2 Global Economic Impact on Industry

Chapter 3 Global Market Competition by Manufacturers

Chapter 4 Global Production, Revenue (Value) by Region

Chapter 5 Global Supply (Production), Consumption, Export, Import by Regions

Chapter 6 Global Production, Revenue (Value), Price Trend by Type

Chapter 7 Global Market Analysis by Application

Chapter 8 Manufacturing Cost Analysis

Chapter 9 Industrial Chain, Sourcing Strategy and Downstream Buyers

Chapter 10 Marketing Strategy Analysis, Distributors/Traders

Chapter 11 Market Effect Factors Analysis

Chapter 12 Global Human Genetics Market Forecast

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Massive Growth in Human Genetics Market Breaking new grounds and touch new level in Upcoming Year by QIAGEN, Agilent Technologies, Thermo Fisher...

Anne Wojcicki spoke Wednesday as the inaugural speaker for the University of Miami Patti and Allan Herbert Business Schools Knight Venture Leaders Series.

As the inaugural speaker of the University of Miami Patti and Allan Herbert Business Schools Knight Venture Leaders Series, Anne Wojcicki, the CEO and co-founder of the worlds largest genome analyzing firm, explained that the company seeks to empower its customers to be more responsible for their own health and well-being.

Wojcicki said Wednesday that the 10 years she spent working on Wall Street, primarily investing in biotechnology companies, provided an incredible opportunity to learn about the health care industry and birthed the impetus and ideas for the company she co-founded in 2006.

23andMe started with the idea that the individual can step up when given the opportunity, she said, citing the example of type 2 diabetes as among the most prevalent, pernicious, and yet preventable health conditions in the United States. According to Wojcicki, when customers learn about their genetic likelihood of developing such an illness, they are likely to be motivated to change their lifestyle and ultimately help themselves prevent the disease.

The health care system assumes that you are not capable of taking care of yourselfand I fundamentally dont agree with that, she said. I get so agitated when people tell me that a consumer cant handle knowing information about their own health. We have the data to prove that people are far more capable of making the necessary lifestyle changes than you can ever imagine.

Wojcicki said that the activism of the HIV community in the late 1990s also supported her belief that people should have more say in the decisions regarding their health and care.

They werent just wearing a ribbonthey were angry, and they were demanding accountability and change, she explained. They wanted to be involved and trusted as a partner in their own care.

President Julio Frenk welcomed Wojcicki as a legendary figure in the innovation space and said he was already aware of her many accomplishments when the two met several years ago, soon after he had arrived in Miami. She gifted him with a 23andMe kit.

Issues of ancestry have always been of great interest to me, and the testing results have provided really vital health information and given me a glimpse into genetically determined propensities, Frenk said.

In answer to a question from moderator John Quelch, dean of the Miami Herbert Business School, Wojcicki cited two principles that define her leadership style.

One, that Im very directI never want there to be any ambiguity on where I stand, she said. I have learned over time that it helps everyone to eliminate some of the fluff.

Secondly, she pointed out that she is very family friendly. Im a huge believer that people do their best work when they dont have to worry about their families. I want people to feel like 23andMe is a nurturing placewhen you do that, they give you their best.

After launching 23andMe, the company partnered with pharmaceutical firms for many years to do the research regarding medicines that might reduce or eliminate illnesses.

At some point we realized the best way to make advances of human genetics was to do drug discovery ourselves, Wojcicki noted. The company now has a 100-person research and development team.

As the world seeks to develop a vaccine and preventions to mitigate the COVID-19 pandemic, Wojcicki said 23andMe is well poised to help because of the survey system and database it established years ago.

On April 6, we launched a survey to our 12 million customers. One million responded and 10,000 said they have the virus and another thousand reported they had been hospitalized, she said. The existing health information related to the respondents provided valuable data relating to blood types that might be more susceptible to the virus.

I can easily partner and put out surveys regularly to that community and partner those findings with academic or other programs, Wojcicki said. We can follow these people to understand what is happening. The only way were going to understand and eventually conquer COVID-19 is to collect the data so we can make some progress on the vaccines, the treatments, and the prevention.

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CEO of genome analysis firm: We have the data to prove people will take care of themselves - University of Miami

A new collaboration between researchers at the University of Toronto and Harvard University will use machine learning to gain a better understanding of human social networks in a post-pandemic world.

Joel Levine, a professor of biology at U of T Mississauga,andTakao Hensch, professor at Harvard University and the University of Tokyo, will lead one of six projects supported by the Canadian Institute for Advanced Research. The researchers hold senior positions with CIFARs child andbrain development program, where Hensch is program director and Levine is a senior research fellow.

The duo will draw upon their ongoing work with fruit flies and mice to develop new computational modelling software. The tool will aid in the analysis of data sources, such as videos, to reveal patterns of behaviour in human social interactions, and provide insights into the developmental and neural basis of social structures.

Levine, who studies the link between genetics and fruit fly behaviour, says we can see patterns of behaviour in all corners of the animal kingdom, includingflies, ants and bees.

There are collective behaviours that seem to be wired into us, too, he says. If youre walking in a flow of people on the street and stop to look up, youll find that people who pass will look up, too.

Understanding these dynamics can provide insight into the rules that guide us, and the consequence for following those rules.

Levine is excited about the possibilities for the new software.

This project will create methods to better understand the way networks are created, and how they might be manipulated or reconfigured to maintain the value of the way humans interact in groups, allowing for environmental considerations such as the COVID-19 virus, he says.

This grant will allow us to develop those methods and create a software pipeline to analyze experiments on social networks and the mechanisms that create them.

U of T Mississauga alumnaSara El-Shawawill develop software for the program. The data scientist studied computational science and biology at U of T before taking an internship with Henschs lab at Harvard. She will begin graduate studies with another CIFAR fellow at the University of Guelph this fall.

COVID-19 has given us an opportunity to look at questions about social processes like the delivery of health care or goods and services, says Levine. This tool will provide insight into how we connect with each other and how that contributes to our quality of life.

The initiative is one of six projects to receive funding through theManulife CIFAR Population Health & Well-being Grant Program, which enables interdisciplinary research on social, cognitive and biological implications of the pandemic. Projects by two U of T researchers also received funding through the program.Associate ProfessorAnna Goldenbergof the department of computer science in the Faculty of Arts & Science and the Hospital for Sick Childrenis a collaborator on a cross-disciplinary study of how the pandemic affects the brains and immune systems of children. ProfessorGoldie Nejatof the department of mechanical and Industrial Engineering in the Faculty of Applied Science & Engineering will study how robots might serve vulnerable communities.

Levine holds a Tier 1 Canada Research Chair in mechanisms and features of social behaviour. His research is supported by Canadian Institutes of Health Research and the Natural Sciences and Engineering Research Council of Canada.

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Researchers from U of T, Harvard study collective human behaviour amid COVID-19 - News@UofT

27 July 2020

Mutations in the M1AP gene have been identified by researchers as a major trigger for male infertility.

Initially, the researchers screened DNA of 58 men with complete, but unexplained meiotic arrest, which is the interruption of spermatogenesis (the processes by which haploid sperm cells develop from germ cells) and results in altered sperm cell formation. The researchers identified the same homozygous frameshift mutation in M1AP, the gene encoding meiosis 1 associated protein, in three unrelated men.

The team subsequently undertook DNA sequencing of almost 2000 infertile men and identified four patients from Mnster, Germany, five members of the same Turkish family, two cases from Portugal and one patient each from Giessen, Germany, Nijmegen, the Netherlands and Newcastle upon Tyne - all with various mutations in the M1AP gene. The common phenotype between all these affected men was the absence of sperm in their semen, known as non-obstructive azoospermia, although occasionally spermatids and rarely a few mature sperm cells were observed in their semen.

The research was conducted over two years, led by Professor Frank Tttelmann, who set up the working group 'Reproductive Genetics', alongside Dr Margot Wyrwoll and Dr Corinna Friedrich at the Institute of Human Genetics, part of the University of Mnster, Germany.

Male infertility affects about seven percent of men, but its causes remain poorly understood. The most severe form of male infertility is azoospermia, in which no sperm is present in the semen. Azoospermia can be divided into obstructive azoospermia with normal spermatogenesis and non-obstructive azoospermia, in which normal spermatogenesis is impaired. Non-obstructive azoospermia can be, in part, caused by meiotic arrest, meaning that no mature sperm will develop. This also means that testicular biopsy and sperm extraction are unlikely to be a viable treatment option in these patients.

Because the genetic evidence linking M1AP to male infertility is strong and mutations in M1AP seem to be a relatively frequent cause of autosomal recessive male infertility, sequencing of the gene may be used in the genetic diagnosis of male infertility.

Professor Tttelmann explains 'an enhanced understanding for genetic causes for infertility in men, who often have an alleviated sense of guilt, as well as improved genetic counseling, will continue to benefit future treatment. Hence, sequencing of the M1AP gene will be incorporated as part of routine genetic diagnostics immediately.'

Theresearch was published recently in the American Journal of Human Genetics and represents significant progress in furthering our understanding of male infertility.

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Gene mutations discovered as a trigger for male infertility - BioNews

BOSTON & TORONTO--(BUSINESS WIRE)--Cerevel Therapeutics, a company dedicated to unraveling the mysteries of the brain to treat neuroscience diseases, and Cyclica, whose AI-augmented, integrated platform enables multi-objective, polypharmacology-informed design of drug molecules, today announced a research collaboration aimed at accelerating the discovery of novel medicines for neuroscience diseases. Through this collaboration, Cerevel will use Cyclicas Ligand Express and Ligand Design proprietary AI platforms to screen, identify, design and evaluate compounds directed at pre-specified targets for neuroscience diseases.

Cerevel aims to be the premier neuroscience company by applying state-of-the-art technology and a differentiated approach to developing novel medicines, said John Renger, Ph.D., chief scientific officer at Cerevel Therapeutics. We are using Cyclicas world-class AI platform for high throughput screening in compound identification and optimizationwhich we believe can more efficiently identify new therapeutic molecules with symptomatic or disease-modifying potential. Utilizing cutting-edge tools like Cyclicas is one of the many ways we are creating a leading neuroscience drug discovery and development platform for the future.

Leveraging Cyclicas multi-targeted, proteome-wide approach, combined with Cerevels novel and relentless pursuit of advancing neuroscience, has the potential to bring medicines to patients suffering from neurological diseases faster, said Vern De Biasi, vice president and global head of strategic partnerships at Cyclica.

In addition to its pipeline of five clinical assets and seven pre-clinical programs, Cerevel is pursuing undisclosed targets for numerous neurological indications, including those with disease-modifying potential. Cerevel is supporting these efforts through the use of AI, as well as human genetic analyses and DNA-encoded chemical libraries, to better understand the therapeutic potential of numerous chemical lead series.

AI-based in silico drug design has made dramatic progress over the past five years and can significantly enhance our approach to designing potent and selective small molecules based upon predicted three-dimensional structure of protein targets, said David Stone, head of genetics and biomarkers at Cerevel Therapeutics. We will use Cyclicas AI platforms to rapidly generate unique chemical matter for synthesis and testing, with the goal of faster development of new medicines for patients living with neuroscience diseases.

Cyclicas drug discovery platform accelerates pre-clinical drug development by considering the polypharmacological profiles and medicinal properties of drug candidates simultaneously during the design process, said Vijay Shahani, director of applied science at Cyclica. We are excited by the opportunity to combine our technological approach with Cerevels strong expertise in neuroscience to drive the development of meaningful therapeutics.

Terms of the collaboration with Cyclica are not disclosed.

About Cerevel Therapeutics

Cerevel Therapeutics is dedicated to unraveling the mysteries of the brain to treat neuroscience diseases. The company seeks to unlock the science surrounding new treatment opportunities through understanding the neurocircuitry of neuroscience diseases and associated symptoms. Cerevel Therapeutics has a diversified pipeline comprising five clinical-stage investigational therapies and several preclinical compounds with the potential to treat a range of neuroscience diseases, including Parkinsons disease, epilepsy, schizophrenia and substance use disorder. Headquartered in Boston, Cerevel Therapeutics is advancing its current research and development programs while exploring new modalities through internal research efforts, external collaborations or potential acquisitions. For more information, visit http://www.cerevel.com.

About Cyclica

Cyclica is the first company to approach polypharmacology with a structure-based, AI-augmented in silico discovery platform, centered on Ligand Design and Ligand Express. Powered by MatchMaker, a proprietary deep learning proteome screening technology, and POEM, an innovative supervised learning technology for predicting molecular properties, Cyclicas platform is suited uniquely to the design of novel, chemical matter by simultaneously prioritizing compounds based on their on- and off-target polypharmacological profiles as well as their developmental properties. With a world-class team that has deep roots in the industry, a first-in-class platform, and an innovative decentralized partnership model, Cyclica is creating medicines with greater precision for unmet patient needs.

Special Note Regarding Forward-Looking Statements

This press release contains forward-looking statements that are based on managements beliefs and assumptions and on information currently available to management. In some cases, you can identify forward-looking statements by the following words: may, will, could, would, should, expect, intend, plan, anticipate, believe, estimate, predict, project, potential, continue, ongoing or the negative of these terms or other comparable terminology, although not all forward-looking statements contain these words. These statements involve risks, uncertainties and other factors that may cause actual results, levels of activity, performance or achievements to be materially different from the information expressed or implied by these forward-looking statements. Although we believe that we have a reasonable basis for each forward-looking statement contained in this press release, we caution you that these statements are based on a combination of facts and factors currently known by us and our projections of the future, about which we cannot be certain. Forward-looking statements in this press release include, but are not limited to, statements about the potential of artificial intelligence platforms to accelerate the discovery and development of novel medicines for neuroscience diseases. We cannot assure you that the forward-looking statements in this press release will prove to be accurate. Furthermore, if the forward-looking statements prove to be inaccurate, the inaccuracy may be material. In light of the significant uncertainties in these forward-looking statements, you should not regard these statements as a representation or warranty by us or any other person that we will achieve our objectives and plans in any specified time frame, or at all. The forward-looking statements in this press release represent our views as of the date of this press release. We anticipate that subsequent events and developments will cause our views to change. However, while we may elect to update these forward-looking statements at some point in the future, we have no current intention of doing so except to the extent required by applicable law. You should, therefore, not rely on these forward-looking statements as representing our views as of any date subsequent to the date of this press release.

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Cerevel Therapeutics and Cyclica Announce Research Collaboration to Use Artificial Intelligence to Accelerate Discovery of Novel Medicines in...

Close relatives of the virus behind COVID-19 likely circulated in bats for decades before the viruses made their jump into humans last year, igniting the worst global pandemic in more than 100 years, according to a study released this week.

The paper, co-authored by Todd Castoe, a University of Texas-Arlington researcher and published in the journal Nature Microbiology, also found no evidence that the virus was either manufactured in or accidentally released from a lab in Wuhan, China, as some have speculated.

"From the 1960s or the 1970s, these viruses were just circulating undetected in bats, probably ready to infect humans at any point," said Maciej Boni, the paper's lead author and an expert on infectious disease at Pennsylvania State University. "We just got unlucky in 2019."

Scientists still don't know exactly how the novel coronavirus first spread to humans, but the new study suggests bats were the virus' primary reservoir.

Until now, researchers have speculated that the virus may have come from dogs, snakes, bats or pangolins, highly trafficked mammals that resemble armadillos. Some have suggested it was created in a Wuhan lab as a bioweapon or that it was released from a lab by accident.

"The paper does a nice job at narrowing down some of the still-to-be answered questions about where this virus came from," said Robert Garry of the Tulane University School of Medicine who was not involved in the study.

By comparing the SARS-CoV-2 virus to its cousins in bats, pangolins and other animals, scientists were able to show that it was about 96% similar to its closest known bat-virus relative. They then analyzed SARS-CoV-2 1/4 u2032s genetic material to estimate when it may have diverged from that closest known relative.

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Relatives of coronavirus may have been in bats for decades - Opelika Auburn News

Express News Service

COIMBATORE: At a time when scientists across the globe are researching to develop vaccines to cure Covid, a team of multidisciplinary researchers has come out with a medical hypothesis that platelets could be a reason for lung inflammation in infected patients.

The alumni of researchers under the guidance of K Sasikala, former head of Zoology department and specialisation in Human Genetics & Molecular Biology in Bharathiar University, currently working in different countries, came together with a mission search for drugs that could fight the infection.

Similarly, the hypothesis titled 'Platelets to surrogate lung inflammation in COVID-19 patients' published by the same team in the letter to the editor column in an ELSEVIER journal suggests that trials are required to assess the direct interaction of virus-platelets in the host.

"By observing reasons for lung inflammation, we predicted that platelets are the ones leading to the condition. CD13 (Human receptor) and HCoV-229E strains are 82 percent similar to SARS-Cov-2, shares similar function to intake virus," said Haripriya Kuchi Bhotla (Department of Medicine, University of Perugia, Italy) - specialisation in a dedicated lab for Platelet Disease Biology, one of the main authors of the hypothesis.

Another author, Murugesh Easwaran said the virus or bacteria is not the sole reason for a person to get infected. "The defence mechanism in ones body would have supported it," he said.

However, he said the vaccine/drug might need many clinical and diagnostic factors to achieve its goal as the virulence of Covid-19 is unstable. If the pandemic sustains for another year or two, the vaccine could be devised based on community, he added.

The mainstream authors are Arun Meyyazhagan, Tanushri Kaul, Balamuralikrishnan B, Manikantan P, Saravanan M and Vijay Anand A.

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Link between platelets and Covid-19 virus? - The New Indian Express

Cyprium Therapeutics, a Fortress partner company, is developing CUTX-101 for Menkes disease

A rolling submission of a New Drug Application to the FDA is expected to begin in the fourth quarter of 2020

NEW YORK, July 29, 2020 (GLOBE NEWSWIRE) -- Fortress Biotech, Inc. (Nasdaq: FBIO) (Fortress), an innovative biopharmaceutical company focused on acquiring, developing and commercializing high-potential marketed pharmaceutical products and development-stage pharmaceutical product candidates, today announced the publication of a study, Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics and Metabolism Reports. The study was published online in July 2020.

The study assessed the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for Menkes disease, a X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase. Left undetected and untreated, Menkes disease is often fatal by three years of age. Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms.

In the study, supported in part by The Menkes Foundation (https://themenkesfoundation.org/) and led by Stephen G. Kaler, M.D., M.P.H., a physician-scientist in the Center for Gene Therapy in the Abigail Wexner Research Institute at Nationwide Children's Hospital, researchers blindly analyzed dried blood spots from control or Menkes disease subjects (n=22) for pathogenic variants in the copper transporter gene, ATP7A. The analytical method was optimized to minimize cost and provide rapid turnaround time. The algorithm correctly identified pathogenic ATP7A variants, including missense, nonsense, small insertions/deletions, and large copy number variants, in 21/22 (95.5%) of subjects, one of whom had inconclusive diagnostic sequencing previously. For one false negative that also had not been detected by commercial molecular laboratories, researchers identified a deep intronic variant that impaired ATP7A mRNA splicing.

The results of our study support proof-of-concept that primary DNA-based NBS would accurately detect Menkes disease, a disorder for which biochemical detection in the newborn period is currently unavailable. Targeted next generation sequencing for NBS would enable improved Menkes disease clinical outcomes through early detection, and eliminate the lengthy, expensive, and uncomfortable diagnostic odysseys endured by many affected infants and their parents, said Dr. Kaler, who is also a professor of Pediatrics and Genetics at The Ohio State University College of Medicine.

Lung S. Yam, M.D., Ph.D., President and Chief Executive Officer of Cyprium, added, This study suggests that Menkes disease could be accurately detected by a quick NBS method that is also cost effective. NBS could potentially increase the number of Menkes disease patients identified at birth allowing for earlier treatment, a critical component correlated with clinical outcome.

The study can be accessed here.

About Menkes Disease and Related Copper Metabolism DisordersMenkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A. The minimum birth prevalence for Menkes disease is believed to be 1 in 34,810 males, but could potentially be as high as 1 in 8,664 live male births, higher than previously recognized. Biochemically, Menkes patients have low levels of copper in their blood and brain, as well as abnormal levels of certain neurochemicals. Definitive diagnosis is typically made by sequencing the ATP7A gene. The condition is characterized by distinctive clinical features, including sparse and depigmented hair (kinky hair), connective tissue problems, and severe neurological symptoms such as seizures, hypotonia, and failure to thrive. Mortality is high in untreated Menkes disease, with many patients dying before the age of three. Milder versions of ATP7A mutations are associated with other conditions, including Occipital Horn Syndrome and ATP7A-related Distal Motor Neuropathy. Currently, there is no FDA-approved treatment for Menkes disease and its variants.

About CUTX-101 (Copper Histidinate)CUTX-101 is in clinical development to treat patients with Menkes disease by replenishing Copper Histidinate, restoring copper homeostasis, and maintaining serum copper levels in the normal age appropriate range. CUTX-101 is a subcutaneous injectable formulation of Copper Histidinate manufactured under cGMP that is intended to improve tolerability due to physiological pH and to bypass the oral absorption of copper, which is impaired in patients with Menkes disease. In a Phase 1/2 clinical trial conducted by Stephen G. Kaler, M.D., M.P.H., at the National Institutes of Health (NIH), early treatment of patients with Menkes disease with CUTX-101 led to an improvement in neurodevelopmental outcomes and survival. A Phase 3 trial of CUTX-101 in patients with Menkes disease also led by Dr. Kaler has completed enrollment. A Cyprium-sponsored expanded access protocol for Menkes disease patients is ongoing.

About Cyprium TherapeuticsCyprium Therapeutics, Inc. (Cyprium), is focused on the development of novel therapies for the treatment of Menkes disease and related copper metabolism disorders. In March 2017, Cyprium entered into a Cooperative Research and Development Agreement (CRADA) with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), to advance the clinical development of CUTX-101 (Copper Histidinate injection) for the treatment of Menkes disease. In addition, Cyprium and NICHD entered into a worldwide, exclusive license agreement to develop and commercialize adeno-associated virus (AAV)-based gene therapy, called AAV-ATP7A, to deliver working copies of the copper transporter that is defective in Menkes patients, and to be used in combination with CUTX-101. CUTX-101 was granted U.S. Food and Drug Administration (FDA) Fast Track and Rare Pediatric Disease Designations, and both CUTX-101 and AAV-ATP7A have received FDA Orphan Drug Designation previously. Cyprium was founded by Fortress Biotech, Inc. (Nasdaq: FBIO) and is based in New York City. For more information, visit http://www.cypriumtx.com.

About Fortress Biotech Fortress Biotech, Inc. (Fortress) is an innovative biopharmaceutical company that was recently ranked number 10 in Deloittes 2019 Technology Fast 500, an annual ranking of the fastest-growing North American companies in the technology, media, telecommunications, life sciences and energy tech sectors, based on percentage of fiscal year revenue growth over a three-year period. Fortress is focused on acquiring, developing and commercializing high-potential marketed pharmaceutical products and development-stage pharmaceutical product candidates. The company has five marketed prescription pharmaceutical products and over 25 programs in development at Fortress, at its majority-owned and majority-controlled partners and at partners it founded and in which it holds significant minority ownership positions. Such product candidates span six large-market areas, including oncology, rare diseases and gene therapy, which allow it to create value for shareholders. Fortress advances its diversified pipeline through a streamlined operating structure that fosters efficient drug development. The Fortress model is driven by a world-class business development team that is focused on leveraging its significant biopharmaceutical industry expertise to further expand the companys portfolio of product opportunities. Fortress has established partnerships with some of the worlds leading academic research institutions and biopharmaceutical companies to maximize each opportunity to its full potential, including Alexion Pharmaceuticals, Inc., AstraZeneca, City of Hope, Fred Hutchinson Cancer Research Center, InvaGen Pharmaceuticals Inc. (a subsidiary of Cipla Limited), St. Jude Childrens Research Hospital and Nationwide Childrens Hospital. For more information, visitwww.fortressbiotech.com.

Forward-Looking StatementsThis press release may contain forward-looking statements within the meaning of Section 27A of the Securities Act of 1933 and Section 21E of the Securities Exchange Act of 1934, as amended. As used below and throughout this press release, the words we, us and our may refer to Fortress individually or together with one or more partner companies, as dictated by context. Such statements include, but are not limited to, any statements relating to our growth strategy and product development programs and any other statements that are not historical facts. Forward-looking statements are based on managements current expectations and are subject to risks and uncertainties that could negatively affect our business, operating results, financial condition and stock price. Factors that could cause actual results to differ materially from those currently anticipated include: risks relating to our growth strategy; our ability to obtain, perform under and maintain financing and strategic agreements and relationships; risks relating to the results of research and development activities; uncertainties relating to preclinical and clinical testing; risks relating to the timing of starting and completing clinical trials; our dependence on third-party suppliers; our ability to attract, integrate and retain key personnel; the early stage of products under development; our need for substantial additional funds; government regulation; patent and intellectual property matters; competition; as well as other risks described in our Securities and Exchange Commission filings. We expressly disclaim any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements contained herein to reflect any change in our expectations or any changes in events, conditions or circumstances on which any such statement is based, except as may be required by law. The information contained herein is intended to be reviewed in its totality, and any stipulations, conditions or provisos that apply to a given piece of information in one part of this press release should be read as applying mutatis mutandis to every other instance of such information appearing herein.

Company Contacts:Jaclyn Jaffe and William BegienFortress Biotech, Inc.(781) 652-4500ir@fortressbiotech.com

Lung Yam, M.D., Ph.D.Cyprium Therapeutics, Inc.ir@cypriumtx.com

Company Investor Relations Contact:Daniel FerryLifeSci Advisors, LLC(617) 430-7576daniel@lifesciadvisors.com

Company Media Relations Contact:Tony Plohoros6 Degrees(908) 591-2839tplohoros@6degreespr.com

Nationwide Childrens Hospital Media Relations Contact:Mary Ellen FiorinoMaryEllen.Fiorino@nationwidechildrens.org

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Fortress Biotech Announces Publication of Study on Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics...

circa 1960: At the Schomburg Center for Research in Black Culture, in New Yorks public library, the hands of a group of scholars piece together a ships document about a cargo of slaves brought to the United States.Photo: Three Lions (Getty Images)

New research looks to provide a fuller retelling of the tragic, brutal past that was the transatlantic slave trade. Based on genetic analysis of over 50,000 people, the study reaffirms other historical evidence of how different groups of people in Africa were forcibly taken from their homes, as well as how those populations contributed to the genetic makeup of people today. The study may also fill in some missing gaps of that history.

The team of researchers analyzed the genes of several groups of people who had previously consented to having their DNA used for research purposes, most prominently 23andMe customers. These groups included people living in the Americas (North, Central, and South America as well as the Caribbean) considered to have higher than 5% African ancestry; people with 95% or higher European ancestry; and people living in various parts of Africa with 95% or higher African ancestry. They then compared these groups to one another to roughly determine the roots of African ancestry in the Americas, looking for similarities in genetic markers.

The researchers didnt stop there, though. They cross-referenced their genetic analysis with shipping records of the boats that operated during the era of the transatlantic slave trade, collected via the Slave Voyages project. The multi-university project now has the records of 36,000 trips made between 1514 and 1866, which include the home regions of the abducted people. The teams findings were published in the American Journal of Human Genetics.

In general, our results are consistent with shipping manifests kept during the slave trade and other historical documents, lead author Steven Micheletti, a population geneticist with 23andMe, told Gizmodo. For instance, records show that 5.7 million enslaved people were forcefully transported from present day Angola and Democratic Republic of the Congo (DRC) into the Americas, and we found that people of African descent in the Americas have the most genetic connections to Angola and DRC.

There were some surprises, however, according to Micheletti. For one, there was a lot less ancestry from the Senegambia region of West Africa in people today than expected, given how many people from there are known to have arrived in the Americas, particularly in theU.S. Because Senegambian people were often forced to work in dangerous rice plantations, where deadly diseases like malaria were especially common, the team speculates that many simply didnt survive long enough to leave descendants.

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Among people in the U.S., there was also evidence that supports the strong intra-continental slave trade now thought to have existed. Nigerian ancestry was overrepresented in African Americans, the authors concluded, suggesting that many enslaved people actually came to the U.S. from places like the Caribbean, where many Nigerian people were originally sent.

Another finding was that women contributed much more to the African ancestry of Americans today than men. While that isnt a complete surprise, given other data, its still striking, since more men were enslaved than women. That reinforces the bleak reality that generations of enslaved women were raped by their so-called masters. But there were also differences in that ratio between regions of the Americas. For example, the researchers estimated for every enslaved man living in Central and South America and the Caribbean who had a child, there were 15 enslaved women who had children, while the ratio was smaller but still skewed toward women in North America (the researchers looked for genetic markers likely to be passed down from women to come up with their estimates). These regional differences, the authors said, could be attributed to post-slavery cultural practices in Latin America that promoted the dilution of populations with darker skin by encouraging white European men to have children with black women. People from Latin America also tended to have a smaller percentage of clear African ancestry, possibly because enslaved Africans and enslaved indigenous people are thought to have often had children together.

They really worked hard at integrating this genetic data with the slave travel records. And that requires a lot of work and a lot of thinking, Simon Gravel, a researcher at McGill University unaffiliated with the study who has also studied the genetic legacy of slavery, told Gizmodo. These are two aspects of the same historical process, so its natural to think that putting them together is really going to be helpful in understanding whats going on. But because this information is coming from very different languages, its actually quite hard to make the connection.

Gravel said that, ideally, you would want even more genetic data from people living in Africa (a little over a thousand people from the continent were included in the dataset) for these comparisons to be as accurate as possible. Studying population genetics, including ancestry, requires a large, representative set of people to serve as a reference point. Indeed, this has been a well-known problem within the world of genetics, where European populations are overrepresented compared to people from other regions. Without greater diversity in these studies, were more likely to miss important differences between people, such as genetic markers that leave some people more at risk to develop hereditary problems; or we might make wrong assumptions about genetic risk in general.

These sorts of studies are an important step forward, though, and the data theyve collected will help future researchers, Gravel said. The study authors acknowledge that more data will help refine their research, and they may redo some of their work once they have more representative samples of people living in other regions of Africa where the slave trade is known to have existed, such as Mozambique, according to co-author Joanna Mountain, senior director of research at 23andMe.

Though its possible that the data theyve collected so far could someday be used to inform research into genetic diseases, the team is more focused on the importance of their research for people hoping to understand their genetic past.

Its a difficult and painful topic to discuss, but the details are essential for understanding the current genetic landscape of African ancestry, Micheletti said. We hope this is eye-opening to people of African descent that may not have much knowledge of their ancestors.

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New 23andMe Study Reveals the Genetic Legacy of Slavery in the Americas - Gizmodo

I am a man of violence by temperament and training, Haldane once declared. He liked to claim that he was descended from Pedro the Cruel, the king of Castile and Lon. With his passion, his iconoclasm and his willingness to shock, his celebrity grew and grew. People liked his sensational stories of self-experimentation. (He continued his fathers physiological research; a fit of convulsions in one self-designed chamber of horrors broke his back.) They loved reading about his scandalous first marriage to Charlotte Burghes, a journalist, which made the British tabloids and almost got him kicked out of Cambridge, where he had taken a position as a reader in biochemistry. She was married when they met; her divorce was ugly; their own union was unconventionally loose. (His next marriage was to Helen Spurway, a biologist who was 22 years younger than he was.)

In lectures which drew large crowds and in pubs, Haldane tossed off important and futuristic ideas like firecrackers. He wrote a revolutionary paper that helped transform the way biologists think about the origin of life. His vision of what would become known as test-tube babies helped inspire Aldous Huxleys Brave New World. Haldane was a terrific writer in his own right. His political essays were like razor blades in print, Subramanian says. His science essays were superb. In one of his best, On Being the Right Size, Haldane writes, You can drop a mouse down a thousand-yard mine shaft; and, on arriving at the bottom, it gets a slight shock and walks away, provided that the ground is fairly soft. A rat is killed, a man is broken, a horse splashes. What a sentence. That last word shocks you every time and you can hear in it more than a hint of his genetic inheritance from Pedro the Cruel.

At his best, Haldane was a heroic example of the scientist as activist, humanist and idealist. He felt, as we now feel afresh in our century, Subramanian writes, that nations were held rapt by the wealthy, that they were warmongering and venal, that they placed the narrow interests of the powerful above the well-being of the powerless. Many of his views on class and race have aged well. But he picked petty fights wherever he went; and he championed the Soviet Union long after Stalin began slaughtering his people and murdering his geneticists. Haldane put himself through disgraceful intellectual contortions to defend Stalinist pseudoscience.

Marx thought a single theory would someday cover everything from the laws of physics to the laws of human progress: There will be one science. It was Haldanes great accomplishment to help make biology one science, with the modern synthesis. To do more, to explain the tragic messiness of history that kind of synthesis continues to elude us. Its hard enough to sum up the good and the bad in one human being.

A Dominant Character is the best Haldane biography yet. With science so politicized in this country and abroad, the book could be an allegory for every scientist who wants to take a stand. In the past few years, Subramanian writes, as weve witnessed deliberate assaults on fact and truth and as weve realized the failures of the calm weight of scientific evidence to influence government policy, the need for scientists to find their voice has grown even more urgent. Haldanes political principles were unbending and forthright, as Subramanian says, and his science illuminated all of life. In both these ways, for all his failings, he was deeply attractive during a time of shifting, murky moralities.

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The Groundbreaking Scientist Who Risked All in Pursuit of His Beliefs - The New York Times

Photographer: Cayce Clifford/Bloomberg A 23andMe Inc. DNA genetic testing kit.

(Bloomberg) -- U.K. drugmaker GlaxoSmithKline Plc and genetic-testing giant 23andMe Inc. have begun their first joint human clinical trial as part of a collaboration to leverage the Silicon Valley firms DNA database to develop drugs.

The companies said that they enrolled their first patientthis month in early-stage trials for a drug that targets human tumors. The drug is an antibody that works to block CD96, a proteinthat plays a role in modulating the bodys immune responses. The theory is that blocking it will help control the activity of another molecule in the body called CD155 that is often over-expressed in malignant human tumors.

GSK took a $300 million stake in 23andMe in 2018in a deal to share its data and collaborate on drug development.The idea was to comb DNA data and health information volunteered by 23andMes more than 12 million customersto hunt for clues as to the role genetics playin different diseases and then translate those insights into potential new drugs.

This is a new way of thinking about drug development, Hal Barron, GSKs chief scientific officer and president of research and development, said in an interview. And the concept is coming to bear.

There is much enthusiasm in the pharmaceutical world for the pathway that these companies are targeting. Prior to teaming up, both had their own programs to explore CD96. 23ndMe tapped into its database to validate GSKs approach, using an algorithm that compared potential drug targets to a data set that included genetic information along with other health data shared by customers in order to identify genetic patterns.

Its an important target, Barron said. Hopefully well find out in the clinic that it helps patients fight cancer, and maybe even aids the immune system in eradicating it. That would be the ideal situation.

The two companies have nearly 30 programs underway exploring potential drug targetsin oncology, immunology, neurology, cardiovascular and metabolic disease. The vast majority are still in the early stages of validating those molecular pathways; for a few, drug discovery efforts are already underway.

What has surprised me the most is how well this approach has worked, how productive its been, said 23andMe Chief Executive Officer Anne Wojcicki.

Identifying a molecular pathway that plays a role in a disease is only part of the hurdle in developing a drug. Even once its clear that a target is involved in a disease, altering it could have other negative health impacts or simply be difficult to design a drug due to the intricacies of human biology.

While its unlikely all thosewill make it to clinical trials, Barron said thatusing genetics to find potential drug targets will hopefully lead to a higher probability thoseultimately result in effective medicines.

23andMe launched its therapeutics program five years ago, and its become an increasingly large focus of the company. In January, it licensed an antibody it had developed to treat inflammatory diseases to Spanish drugmaker Almirall SA. The company is individually pursuing other drug candidates, some of which it may put through clinical trials itself rather than licensing out to other companies.

For more articles like this, please visit us at bloomberg.com

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23andMe and GSK Head to Clinical Trials With Cancer Drug - MSN Money

A hub of deep expertise, the Department of Human Genetics helps partners across UCLA interpret data and leverage genomic technology to improve study design and solve medical problems.

We demystify genetic complexities to provide vital insights for a range of clinical and research applications. We strive to improve the care of as many patients as possible by pushing our capabilities, developing novel ways to address unanswered questions.

Your next collaboration is right down the street.

Our enviable proximity to the worlds brightest scientific minds enables both thriving scheduled events and impromptu sidewalk powwows. A casual conversation during your coffee run could lead to your next big publication.

Come find out why innovation lives here.

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Steve Horvath, PhDThe precision of the epigenetic clock is the methodology that accurately measure biomarker of aging and could measure child development.Learn More

Chongyuan Luo, PhDThe Department of Human Genetics welcomes Dr. Chongyuan Luo as our new Assistant Professor to our team of world class faculty researchers here at the UCLA.Learn More

Sriram Sankararaman, PhDArun Durvasula

Science Advancespublished a paper on a study that uses genetic information to identify archaic 'ghost population'. PhD Candidate Arun Durvasula is first author and Principal Investigator Sriram Sankararaman serves as co-author. Both are from Human Genetics.Learn More

Yi Yin, PhD The Department of Human Genetics welcomes Dr. Yi Yin as our new Assistant Professor. She joined our team of world class faculty researchers in March 2020. Learn More

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Human Genetics - David Geffen School of Medicine at UCLA

Each cell in our bodies holds two metres of DNA that contains the six billion bits of the DNA code necessary for making a healthy human body. This is known as the human genome. It is now accepted that what makes people different, and contributes to their susceptibility to ill health, are the 6-10 million DNA differences in the human genome known to exist within the general population.

A surprising fact is that only 1.7% of these 6 billion bits of code represent the genes that make proteins. Proteins are the physical building blocks of our bodies and are essential to keep us healthy.

Though huge strides have been made in mapping the DNA differences associated with mental health conditions such as depression, schizophrenia and chronic anxiety thanks to the sequencing of the human genome, what surprised many was the discovery that over 98% of these DNA changes lay within the dark and mysterious remainder of the human genome that did not make protein.

This part of the genome had been largely dismissed as the junk genome but, because of its importance to health, is now known as the non-coding genome. Critically, we dont yet fully understand what type of information is contained in the non-coding genome that is so essential for human health and how DNA differences change this information result in ill-health.

To understand how the non-coding genome supports health it may be helpful to think of the human body as a vast and extremely complex community of different cells. Which means the identity of a cell, and its ability to communicate effectively with other cells, is essential for normal human development and health.

Based on this assumption, many scientists have suggested that although genes contain the information to make cells, the information required to allow these cells to communicate and organise into tissues resides in the non-coding genome. Incredibly, recent estimates suggest that the human non-coding genome contains over five times more information critical to health than that which is contained within genes.

We now know that much of the information in the non-coding genome is in the form of gene switch sequences (also known as promoters and enhancers) that control the levels that genes are turned on in specific cells and in response to specific signals. It is highly likely that these switches, by responding to signals travelling between cells, are responsible for coordinating the cell-to-cell interactions required to form the structure and function of organs such as the brain.

However, identifying these switches and their function in specific cells has been challenging. Being able to easily identify and understand these gene switches, and the effects of ill-health-inducing DNA differences on their activity, will be critical to fully understanding the genetic basis of mental health.

It has been known for some time that a number of genes are responsible for regulating behaviours such as alcohol intake and mood. Disappointingly, analysis of these genes in the human population has failed to identify changes in the DNA of these genes that were strongly associated with disorders such as alcohol abuse and chronic anxiety.

Working in collaboration with Andrew McIntosh at the University of Edinburgh, our research looked to determine what controlled the very specific expression of neuropeptides (chemical signals) in parts of the brain where they are essential to controlling normal mood and alcohol intake.

We noticed that the specific cell types in which many of these genes were switched on were shared by many different species. For example, the gene that produces the alcohol intake and mood-controlling galanin peptide was turned on in very specific regions of the hypothalamus and amygdala parts of the brain that control appetite and mood in mice, rats and humans.

We reasoned that the sequences of the gene switches that controlled this expression would also be very similar between these species. So we used powerful computers that lined up the DNA sequences of more than 100 vertebrate species and found that a non-protein-coding DNA sequence, next to the galanin gene, had changed very little through evolution, suggesting its importance for survival.

Using CRISPR genome editing, a process that allows us to make targeted deletions in the DNA of mice, we deleted this sequence from the mouse genome and found that the galanin gene was switched off in these mice. Surprisingly, we also found that mice lacking this switch drank less ethanol and that male mice had reduced fear. The most important observation was that the switch contained DNA differences in the human population that altered its activity.

Our research showed that one of the differences could be linked to alcohol abuse and anxiety in men in the UK Biobank human genetic cohort which mirrored our observations in mice. This study was recently published in the academic journal Molecular Psychiatry.

We believe that our ability to quickly and accurately identify the functional components of the non-coding human genome, and how they can go wrong to contribute to susceptibility to mental health conditions, is just the tip of the iceberg in terms of human health. Which means the same principles used in our studies can be applied for other diseases such as cancer, cardiovascular disease, Type 2 diabetes and susceptibility to Covid-19.

There is even evidence that the activity of these gene switches can be affected by life events such as childhood deprivation known to affect disease susceptibility through an epigenetic process known as DNA-methylation epigenetics being the study of biological mechanisms that switch genes on and off.

There has never been a more exciting time to be in genetics and it is hoped that the exploration of the dark matter of the non-coding genome will bring tremendous benefits in terms of being able to diagnose susceptibilities to mental health disorders and other conditions and help us develop new, more personalised treatments.

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Discovering how genetic 'dark matter' plays a role in mental illness is just the tip of the iceberg for human health - The Conversation UK

NEW YORK, July 27, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc.(Nasdaq: PRVL), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced that the United States Patent and Trademark Office (USPTO) on June 23, 2020 issued a composition of matter patent, U.S.PatentNo.10,689,625,with claims directed to the AAV vector used in PR006, Prevails experimental gene therapy program for the treatment of frontotemporal dementia patients withGRNmutations (FTD-GRN). The base patent term extends until October 2038, excluding patent term extensions or coverage in additional related patent filings.

At Prevail, we are working continuously to bring innovative treatments to patients with neurodegenerative diseases, said Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer of Prevail. FTD-GRN is a devastating condition, with no disease-modifying therapeutic options available. We are excited about the possibility of making a significant impact with PR006.

In March of this year, Prevail announced an active IND for the Phase 1/2 clinical trial of PR006 for the treatment of FTD-GRN. TheU.S. Food and Drug Administration(FDA) has granted the therapy Fast Track Designation.

PR006 is being developed as a potential one-time gene therapy for FTD-GRN, a progressive neurodegenerative disease caused by mutations in theGRNgene that reduce production of progranulin, a protein critical for lysosomal function, neuronal survival and normal microglial activities. The progranulin deficiency leads to lysosomal dysfunction, ineffective protein degradation and recycling, neuroinflammation, and ultimately neurodegeneration and death, typically within three to ten years of diagnosis.

PR006 is designed to increase progranulin levels in the brains of FTD-GRN patients by delivering a healthy GRN gene using an AAV9 vector.

About Frontotemporal Dementia with GRNMutationsFrontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65, after Alzheimers disease. FTD affects 50,000 to 60,000 people in theU.S.and 80,000 to 110,000 individuals in theEuropean Union. FTD-GRN represents 5-10% of all patients withFTD.FTDresults from the progressive degeneration of the frontal and temporal lobes of the brain, which control decision-making, behavior, emotion and language.In FTD-GRN patients, reduced levels of progranulin lead to age-dependent lysosomal dysfunction, neuroinflammation, and neurodegeneration. There are no approved treatments forFTDor FTD-GRN.

AboutPrevail TherapeuticsPrevail is a gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases. In addition to PR006 for patients with frontotemporal dementia with GRN mutations (FTD-GRN), the company is developing PR001 for patients with Parkinsons disease with GBA1 mutations (PD-GBA) and neuronopathic Gaucher disease, and PR004 for patients with certain synucleinopathies.

Prevail was founded by Dr. Asa Abeliovich in 2017, through a collaborative effort withThe Silverstein Foundationfor Parkinsons with GBA and OrbiMed, and is headquartered inNew York, NY.

Forward-Looking Statements Related to PrevailStatements contained in this press release regarding matters that are not historical facts are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended. Examples of these forward-looking statements include statements concerning Prevails ability to develop meaningful therapeutic advances for patients with neurodegenerative diseases. Because such statements are subject to risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. These risks and uncertainties include, among others: Prevails novel approach to gene therapy makes it difficult to predict the time, cost and potential success of product candidate development or regulatory approval; Prevails gene therapy programs may not meet safety and efficacy levels needed to support ongoing clinical development or regulatory approval; the regulatory landscape for gene therapy is rigorous, complex, uncertain and subject to change; the fact that gene therapies are novel, complex and difficult to manufacture; and risks relating to the impact on our business of the COVID-19 pandemic or similar public health crises. These and other risks are described more fully in Prevails filings with theSecurities and Exchange Commission(SEC), including the Risk Factors section of the Companys Quarterly Report on Form 10-Q for the period endedMarch 31, 2020, filed with theSEConMay 14, 2020, and its other documents subsequently filed with or furnished to theSEC. All forward-looking statements contained in this press release speak only as of the date on which they were made. Except to the extent required by law, Prevail undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

Media Contact:Mary CarmichaelTenBridge Communicationsmary@tenbridgecommunications.com617-413-3543

Investor Contact:investors@prevailtherapeutics.com

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Prevail Therapeutics Granted Composition of Matter Patent for Experimental Gene Therapy Program PR006 - GlobeNewswire

For many of us, orthodontic work getting fitted with braces, wearing retainers was just a late-childhood rite of passage. The same went for the pulling of wisdom teeth in early adulthood. Other common conditions, including jaw pain and obstructed sleep apnea when slack throat muscles interrupt breathing during rest also just seem like par for the course.

A new study says that parents and caregivers can take steps to promote proper mouth, jawbone and facial musculature development in children to help stave off future health burdens and chronic conditions. (Image credit: Getty Images)

The broader scientific community has largely deemed the underlying abnormality behind these problems as hereditary and untreatable, and opted to deal with symptoms through medical devices and after-the-fact interventions.

But in a new study, Stanford researchers and colleagues argue that all these issues and more are actually relatively new problems afflicting modern humans and can be traced to a shrinking of our jaws. Moreover, they maintain that this jaws epidemic is not primarily genetic in origin, as previously thought, but rather a lifestyle disease. That means the epidemic is largely the result of human practices and akin to obesity, type 2 diabetes, heart disease and some cancers.

The study published in the journal BioScience marshals the growing evidence from studies conducted around the world surrounding the jaws epidemic, as well as how to address it proactively. Parents and caregivers can take steps to promote proper mouth, jawbone and facial musculature development in children, the study advises, to help stave off future health burdens and chronic conditions.

The jaws epidemic is very serious, but the good news is, we can actually do something about it, said Paul Ehrlich, the Bing Professor of Population Studies, Emeritus, at Stanford and one of the studys authors.

The new study builds upon a book Ehrlich co-wrote with orthodontist and lead study author Sandra Kahn entitled Jaws: The Story of a Hidden Epidemic, published by Stanford University Press in 2018. Two other Stanford researchers, Robert Sapolsky and Marcus Feldman, have contributed their expertise to the new study. Seng-Mun Simon Wong, a general dentist in private practice in Australia, was also a co-author.

Anthropologists have long noted the significant differences between the jaws and teeth in modern skulls compared to pre-agricultural, hunter-gatherer humans from thousands of years ago. The differences are stark even compared to humans who lived as recently as a century-and-a-half ago during pre-industrial times. These bygone humans showed little teeth crowding, impaction of their wisdom teeth (a leading reason for their surgical removal nowadays) or malocclusion the abnormal positioning of the upper and lower teeth when the mouth is closed.

Paul Ehrlich wants you to shut your mouth for your health. According to Ehrlichs new book, mouth breathing, among other modern habits, has led to an epidemic of small jaws and many troubling health consequences.

Assuming that genetics are chiefly responsible for the sudden modern rise of these dental maladies does not make sense, said Ehrlich. Theres not been enough time for evolution over the span of only several generations to have made our jaws shrink, said Ehrlich. Nor is there any evidence of selection pressures that would have favored smaller jawed-people producing more offspring and thus perpetuating the trait than regular-jawed people.

The evidence of a genetic contribution to the jaws epidemic is not strong, said Feldman, who is a population geneticist and the Burnet C. and Mildred Finley Wohlford Professor and professor of biology.

Instead, profound physiological changes can occur in human populations over short intervals, Feldman pointed out, purely as a result of environmental factors, such as dietary choices and cultural norms. For instance, since World War II, a switchover from heavy rice consumption to more dairy and protein in childhood has been linked to Japanese men gaining around 5 inches in average adult height.

This goes to show that in many cases, lifestyle choices can have just as powerful if not more of an influence on human traits than underlying genetics. A genetic contribution to a trait, if there is one, does not necessarily sentence you to a life with that trait, said Feldman. In almost all cases, you cannot intervene medically to alter a genetic contribution; its not actionable. But what is actionable are the things talked about in this study, as well as Paul and Sandras book.

Available evidence points to the jaws epidemic arising as humanity underwent sweeping behavioral changes with the advent of agriculture, sedentism (settling in one place for extended periods) and industrialization. One obvious factor is the softening of diets, especially with the relatively recent invention of processed foods. Also, less chewing is needed nowadays to extract adequate nutrition our ancestors certainly did not enjoy the sustentative luxury of slurping down protein shakes.

A less obvious, though more significant reason behind the jaws epidemic, Ehrlich and colleagues contend, has been the rise of what they describe as bad oral posture. Our bones grow, develop and change shape under the influences of gentle but persistent pressures, multiple studies have shown. The proper development of the jaw and its associated soft tissues is guided by oral posture the positioning of the jaws and the tongue during times when children are not eating or speaking. This positioning is especially important overnight during long sleep stretches, when swallowing maintains the correct, gentle pressures. With both children and adults now sleeping on forgiving mattresses and pillows, instead of the firm ground as their ancestors did, mouths are likelier to fall open, disrupting positioning and swallowing.

To promote the proper development of the jaw, the answer is not to start sleeping on rocks. Rather, basic practices such as having children chew sugar-free gum, as well as giving babies less mushy foods as they transition to solid foods, can help, the researchers say. Kahn and Wong also practice what they call forwardontics, which includes exercises such as proper breathing and swallowing patterns to guide jaw growth in children as young as 2 versus waiting until children are older and require more severe interventions. To raise awareness of the jaws epidemic and how to better address it, Ehrlich and his co-authors have been giving lectures to conventions of orthodontists and seen some positive momentum. Theres no question that some clinical practices are moving in this direction, said Ehrlich, but we have a lot more work to do.

Benefits are not just limited to straighter teeth, roomier jaws and stronger oral muscles. Cutting down on sleep deprivation from sleep apnea is another gain, which has myriad knock-on benefits. Sleep deprivation increases stress, which is associated with greater risks of heart disease, high blood pressure, depression, cancer and Alzheimers disease in adult populations, and with attention deficit hyperactivity disorder in children.

The maladaptive jaws profile can disrupt our stress response and ultimately bring about greater stress and chronic activation of the bodys stress response, said Sapolsky, the John A. and Cynthia Fry Gunn Professor and a professor of biology, of neurology and neurological sciences and of neurosurgery, whose research focuses on stress.

Ehrlich hopes that increased attention and research geared toward the jaws epidemic can turn the tide.

Were going to continue learning the causes of the jaws epidemic and continue getting the word out on how this is a highly treatable condition early on in life, said Ehrlich. Parents and caregivers, in collaboration with dentists and orthodontists, can all help children to avoid some serious health problems later on in their lives.

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The toll of shrinking jaws on human health | Stanford News - Stanford University News

Dublin, July 27, 2020 (GLOBE NEWSWIRE) -- The "Global Hereditary Genetic Testing Market: Focus on Product, Sample, Technology, Genetic Testing Type, Application Area, Country Data (16 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030" report has been added to ResearchAndMarkets.com's offering.

Hereditary genetic testing has grown significantly since the technology was first commercialized, but it is important to quantify that growth and describe future trends. The genome testing industry is proliferating, and its growth is expected to continue at its torrid pace. However, there are significant challenges that may dampen future growth if not addressed.

Our healthcare experts have found hereditary genetic testing to be one of the most rapidly evolving technologies, and the global market for hereditary genetic testing is predicted to grow at a CAGR of 13.59% over the forecast period of 2020-2030.

The unmet clinical needs for better tools to predict, diagnose, treat, and monitor disease are acting as significant factors driving the growth of the sequencing industry. Other factors driving the growth include the increased understanding of the molecular basis of disease, patient demand, industry investment, and regulations that allow marketing of tests without FDA approval.

Despite rapid advanced sequencing industry growth, there are several key issues that are needed to be addressed to facilitate future growth. The relatively high total costs of delivering sequencing test results compared with other technology platforms, and limited coverage by payers, are the key challenges to the growth of this industry. Whole-genome and exome sequencing remain relatively costly requiring initial equipment investment, specialized workforce requirements, and time-intensive variant interpretation.

Within the research report, the market is segmented on the basis of oncology genetic testing, cardiology genetic testing, neurology genetic testing, product, sample, application area, and region. Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive Landscape

The exponential rise in the application of next-generation sequencing on the global level has created a buzz among companies to invest in the products and services of whole-genome and exome sequencing. Due to the diverse product portfolio and intense market penetration, whole-genome and exome has been a pioneer in this field and been a significant competitor in this market.

On the basis of region, North America holds the largest share, due to improved healthcare infrastructure, rise in per capita income, and improvised reimbursement policies in the region. Apart from this, Latin America and the Asia-Pacific region are anticipated to grow at the fastest CAGR during the forecast period.

Growth Drivers

Market Challenges

Market Opportunities

Key Questions Answered in this Report:

Key Topics Covered:

1 Product Definition1.1 Hereditary Genetic Testing1.2 Inclusion and Exclusion

2 Research Scope2.1 Scope of the Study2.2 Key Questions Answered in the Report

3 Research Methodology3.1 Primary Data Sources3.2 Secondary Data Sources3.3 Market Estimation Model3.4 Criteria for Company Profiling

4 Competitive Landscape4.1 Mergers and Acquisitions4.2 Product Launches4.3 Synergistic Activities4.4 Business Expansion Activities and Others4.5 Market Share Analysis4.6 Growth Share Analysis

5 Hereditary Genetic Testing: Overview5.1 Current State of Hereditary Genetic Testing5.2 Market Footprint and Future Potential

6 Market Dynamics6.1 Overview6.2 Impact Analysis6.3 Market Drivers6.3.1 Rising Prevalence of Genetic Disorders6.3.2 Increasing Prevalence of Various Types of Cancer, Globally6.3.3 Increasing Research Funding in the Field of Genomics6.4 Market Restrains6.4.1 Expensive Sequencing Procedures and Their Applications in Medical Treatments6.4.2 High Capital Requirement Hampering the Expansion of Global Reach6.4.3 Stringent Regulatory Standards6.5 Market Opportunities6.5.1 Technological Advancements for Exome Sequencing6.5.2 Rise of Direct-to-Consumer (DTC) Testing Services6.5.3 Massive Scope for Adoption of NGS-Based in Emerging Nations

7 Industry Insights7.1 Legal and Regulatory Framework7.1.1 United States7.1.2 Europe7.1.2.1 Germany7.1.2.2 France7.1.2.3 Italy7.1.3 Asia-Pacific7.1.3.1 China7.1.3.2 Japan7.1.3.3 Australia7.2 Reimbursement Scenario

8 Global Hereditary Genetic Testing Market (by Product)8.1 Overview8.2 Kits and Consumables8.3 Services8.4 Others

9 Global Hereditary Genetic Testing Market (by Sample Type)9.1 Overview9.2 Tumor Tissue9.3 Bone Marrow9.4 Saliva9.5 Blood9.6 Other Sample Types

10 Global Hereditary Genetic Testing Market (by Technology)10.1 Overview10.2 Next Generation Sequencing (NGS)10.3 Polymerase Chain Reaction (PCR)10.4 Immunohistochemistry (IHC)10.5 In-Situ Hybridization (ISH)10.6 Microarray Techniques10.7 Other Technologies

11 Global Hereditary Genetic Testing Market (by Oncology Genetic Testing Type)11.1 Overview11.2 Breast Cancer11.3 Lung Cancer11.4 Prostate Cancer11.5 Colorectal Cancer11.6 Melanoma11.7 Other Oncology Hereditary Genetic Testing

12 Global Hereditary Genetic Testing Market (by Cardiology Genetic Testing Type)12.1 Overview12.2 Cardiomyopathy12.3 Aortopathy12.4 Arrhythmia12.5 Other Cardiology Hereditary Genetic Testing

13 Global Hereditary Genetic Testing Market (by Neurology Genetic Testing Type)13.1 Overview13.2 Epilepsy13.3 Neurodegenerative Disorders13.4 Neuromuscular Disorders13.5 Other Neurology Hereditary Genetic Testing

14 Global Hereditary Genetic Testing Market (by Other Genetic Testing type)14.1 Newborn Screening14.2 Prenatal Screening (NIPT) and Preimplantation Testing14.3 Rare Disease Testing14.4 Direct-to-Consumer Testing

15 Global Hereditary Genetic Testing Market (by Application Area)15.1 Academic and Research15.2 Clinical Diagnostics15.3 Drug discovery15.4 Monitoring and Screening

16 Global Hereditary Genetic Testing Market (by Region)16.1 Overview16.2 North America16.2.1 U.S.16.2.2 Canada16.3 Europe16.3.1 Germany16.3.2 France16.3.3 Italy16.3.4 U.K.16.3.5 Spain16.3.6 Russia16.3.7 Netherlands16.3.8 Rest-of-Europe16.4 Asia-Pacific16.4.1 China16.4.2 Japan16.4.3 India16.4.4 Australia16.4.5 Singapore16.4.6 Rest-of-APAC16.5 Latin America16.5.1 Brazil16.5.2 Mexico16.5.3 Rest-of-Latin America16.6 Rest-of-the-World (RoW)

17 Company Profiles17.1 Overview17.2 Agilent Technologies, Inc.17.2.1 Company Overview17.2.2 Role of Agilent Technologies, Inc. in the Global Hereditary Genetic Testing Market17.2.3 Financials17.2.4 Key Insights About Financial Health of the Company17.2.5 SWOT Analysis17.3 Ambry Genetics17.3.1 Company Overview17.3.2 Role of Ambry Genetics in the Global Hereditary Genetic Testing Market17.3.3 SWOT Analysis17.4 Beijing Genomics Institute (BGI)17.4.1 Company Overview17.4.2 Role of BGI in the in the Global Hereditary Genetic Testing Market17.4.3 SWOT Analysis17.5 CENTOGENE AG17.5.1 Company Overview17.5.2 Role of CENTOGENE AG in the Global Hereditary Genetic Testing Market17.5.3 SWOT Analysis17.6 Eurofins Scientific SE17.6.1 Company Overview17.6.2 Role of Eurofins Scientific SE in the Global Hereditary Genetic Testing Market17.6.3 Financials17.6.4 SWOT Analysis17.7 F. Hoffmann-La Roche Ltd17.7.1 Company Overview17.7.2 Role of F. Hoffmann-La Roche Ltd in the Global Hereditary Genetic Testing Market17.7.3 Financials17.7.4 Key Insights About Financial Health of the Company17.7.5 SWOT Analysis17.8 Illumina, Inc.17.8.1 Company Overview17.8.2 Role of Illumina, Inc. in the Global Hereditary Genetic Testing Market17.8.3 Financials17.8.4 Key Insights About Financial Health of the Company17.8.5 SWOT Analysis17.9 Laboratory Corporation of America Holdings17.9.1 Company Overview17.9.2 Role of Laboratory Corporation of America Holdings in the Global Hereditary Genetic Testing Market17.9.3 Financials17.9.4 SWOT Analysis17.1 Myriad Genetics, Inc.17.10.1 Company Overview17.10.2 Role of Myriad Genetics, Inc. in the Global Hereditary Genetic Testing Market17.10.3 SWOT Analysis17.11 PerkinElmer, Inc.17.11.1 Company Overview17.11.2 Role of PerkinElmer Inc, in Global Hereditary Genetic Testing Market17.11.3 Financials17.11.4 Key Insights About Financial Health of the Company17.11.5 SWOT Analysis17.12 Quest Diagnostics Incorporated17.12.1 Company Overview17.12.2 Role of Quest Diagnostics Incorporated in the Global Hereditary Genetic Testing Market17.12.3 Financials17.12.4 SWOT Analysis17.13 Thermo Fisher Scientific Inc.17.13.1 Company Overview17.13.2 Role of Thermo Fisher Scientific Inc. in the Global Hereditary Genetic Testing Market17.13.3 Financials17.13.4 Key Insights About Financial Health of the Company17.13.5 SWOT Analysis17.14 Emerging Companies17.14.1 COLOR17.14.1.1 Company Overview17.14.2 Natera, Inc.17.14.2.1 Company Overview

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

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Global Hereditary Genetic Testing Market (2020 to 2030) - Analysis and Forecast - GlobeNewswire

As Scholar Rock shakes up its C-suite, their loss has been startup Triplet Therapeutics gain as it nabs chief scientific officer Alan Buckler, Ph.D.

Scholar Rock, which is testing drugs in spinal muscular atrophy and its cancer immunotherapy, loses its CSO Buckler who had helped lead these programs, and comes after Scholar also saw its founding CEO Nagesh Mahanthappa, Ph.D., who becomes its scientific adviser.

Buckler now moves over to Triplet, picking up the CSO role there, and comes off a distinguished career that has seen him serve as vice president, cell and protein sciences at Biogen, and a nine-year stint as leading drug discovery programs at Novartis Institutes of Biomedical Research.

His new home launched late last year with $59 million and a mission to develop drugs for repeat expansion disorders such as Huntington disease and fragile X syndrome.

The company is taking aim at disorders caused by too many repeats of certain DNA sequences. These include triplet repeat disorders, or repeat expansion disorders (RED), so called because they result from repeats of three nucleotide bases, or letters.

The biotech says its able to think more holistically about this group of diseases, which number about 40, because of a new understanding of how they develop.

Thanks to new genetic datamost of which werent even available when Triplet was founded in 2018the company identified one central pathway that drives repeat expansion disorders: the DNA damage response (DDR) pathway.

One kink can make the DNA more likely to develop more kinks, growing longer and longer, like a snowball rolling down a hill. Eventually, it reaches a point where it becomes toxic to the cell, he said.

Current treatments for Huntington disease (HD) and other repeat expansion disorders focus on improving symptoms and do not change the course of the disease. Development efforts by companies like Roche and Wave Life Sciences target RNA, which stops toxic proteins from being made, but they do not address the underlying mutation.

What the biotech aims to is to work on drugs against very specific members of the DDR pathway to stop that expansion from taking place.

The company is working on antisense oligonucleotides and small interfering RNA medicines, with its leading clinical candidate, TTX-3360, focused on HD, with the biotech also eyeing up the med for spinocerebellar ataxias, fragile X syndrome, and familial amyotrophic lateral sclerosis (ALS).

Targeting the DDR pathway means Triplet will develop drugs not on a disease-by-disease basis, but on a tissue-by-tissue basis. That means it could potentially target several diseases with one drug.

We are delighted to welcome Alan to Triplet, said Nessan Bermingham, Ph.D., founder, presidentand CEO of Triplet. His foundational understanding of the genetic basis for REDs and his extensive experience in R&D complements our existing management team, our deep understanding of a novel pathway in REDs, and the R&D strategy for our thRED Engine, from which our recently announced clinical candidate TTX-3360 was identified.

We are rapidly advancing therapies that could be transformative for patients with REDs and expect to file an IND in the second half of 2021.

Grounded in human genetics, Triplets approach is uniquely designed to target a fundamental driver of repeat expansion disorders, added Buckler. I am excited to join this first-class team as we work to advance innovative therapies for patients living with these devastating diseases.

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Triplet Therapeutics nabs Scholar Rock R&D exec as new CSO - FierceBiotech

Written by Dipanita Nath, Edited by Explained Desk | Pune | Updated: July 26, 2020 8:34:40 am Professor Sarah Gilbert, who is leading development of a coronavirus vaccine at Oxford University, in Oxford, April 24, 2020. (Mary Turner/The New York Times)

Earlier this week, there was positive news on the Oxford vaccine candidate, one of a clutch of frontrunner candidates to protect the world from the SARS-CoV-2 virus that had, until Friday (July 24) morning, infected nearly 15.5 million people and killed over 630,000 worldwide.

Leading its development is a British scientist who plays the oboe, cycles to work, and is the mother of triplets. Dr Sarah Gilbert was famous in the scientific community as a brilliant vaccinologist; with the success in early trials, she and ChAdOx1 nCoV-19, the vaccine candidate her team is working on has been spotlighted as never before.

Gilbert and co-authors published the results of the early trials in the medical journal, The Lancet, on July 20, titled Safety and immunogenicity of the ChAdOx1 nCoV-19 vaccine against SARS-CoV-2: a preliminary report of a phase 1/2, single-blind, randomised controlled trial. They wrote: ChAdOx1 nCoV-19 showed an acceptable safety profile, and homologous boosting increased antibody responses. Which means that the vaccine candidate had induced an immune response (which is what vaccines are supposed to do), and was safe for people.

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What is Dr Gilberts work in the field of vaccine development?

Dr Gilbert is one of the leading vaccinologists in the world. She is professor of vaccinology at Oxford Universitys Jenner Institute, a prestigious vaccine research centre, and one of the two founders of its spin-out company, Vaccitech, which develops immunotherapy products to treat and prevent infectious disease and cancer.

For more than 15 years, Dr Gilbert has been making and testing vaccines that trigger T cells a type of white blood cells to respond to antigens from malaria, influenza, and tuberculosis, among others.

Her work also includes developing vaccines for influenza and emerging diseases such as Lassa, Nipah, CCHF, and Middle East Respiratory Syndrome (MERS). MERS, which appeared in 2014, too, is caused by a coronavirus. A vaccine against MERS has been tested in clinical trials in the UK, and is now in trials in Saudi Arabia, where the virus is endemic, says Gilberts page on the Jenner Institute website.

The vaccine for MERS involved using the adenovirus (which causes common colds) from a chimpanzee embedded with the genetic material of the MERS virus. For the Covid-19 vaccine, the Oxford scientists used the adenovirus of a chimpanzee embedded with the genetic material from the spike protein, which the coronavirus uses to pierce the cell. In tests till now, bodies of participants have responded as if they were infected with the coronavirus.

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What is known about the acclaimed scientists life away from her work?

Dr Gilbert has not given many interviews since the publication of the results of the early phase trials. Earlier profiles of the scientist in the UK media have said that as a child in Northamptonshires Kettering High School for Girls, she was quiet, polite, and studious, getting a lot of As in studies.

Gilbert belongs to a family of musicians, and her mother, Hazel, was part of the towns operatic society. By the age of 17, however, Gilbert was sure that she wanted to be a medical researcher. After obtaining a degree in biology at the University of East Anglia and a PhD in biochemistry from the University of Hull, Dr Gilbert worked at a number of biotechnology companies, among them Delta, where she learnt about making medicines.

Profiles on Prof Gilbert have noted that she became a vaccine specialist rather by accident. In 1994, when she entered Oxford University to join Professor Adrian Hills lab in a senior postdoc position, it was to work on human genetics. That highlighted the role of a particular type of immune response in protection against malaria, and so the next thing to move on to was to make a vaccine that would work through that type of immune response and thats how I got into vaccines, she told UKs The Telegraph newspaper in an interview.

By 2007, Dr Gilbert, who had become a reader at Oxford University three years previously, had won a project grant from the Wellcome Trust, and had begun work on an influenza vaccine. She has developed two vaccines for the disease so far, and has said that her ultimate aim is to be able to develop her team of scientists to be the leaders in vaccine research in the world.

Many people are fascinated with Dr Gilberts success in balancing the extra demands that women with a career in science face.

According to UNESCO, women make up less than 30 per cent of the worlds researchers. In science, technology, engineering and mathematics, women also publish less, are paid less for their research and do not progress as far as men in their careers.

On the website of the Nuffeld Department of Medicine (of which Jenner Institute, where she works, is a part), Dr Gilbert has been quoted as saying: Work life balance is very difficult, and impossible to manage unless you have good support. Because I had triplets in 1998, nursery fees would have cost more than my entire income as a post-doctoral scientist, so my partner has had to sacrifice his own career in order to look after our children.

She described how 18 weeks of paid maternity leave with three premature babies to care for and work to be completed, was tough: If there is a three-year grant and a woman wants a year-long maternity leave, it can disrupt the progress of the project. The situation becomes worse if more than one person is away simultaneously.

Dr Gilberts advice to women: One of the good things about being a scientist is that the hours are not fixed, so there is a fair amount of flexibility for working mothers. Having said that, there are also times when things (such as overseas conferences and important meetings) are fixed and you have to make sacrifices. It is exceptionally hard work. Its important to plan ahead, and make sure you have people who are willing to cover for you at home while you work. That might be your partner or relatives, or you may be able to buy in help.

Her own children seem to have survived unscathed, but none of them wants to be scientists, she said.

Dr Gilbert is cautiously hopeful. In an interview to the BBC, she said, Nobody can be absolutely sure that it is possible. Thats why we have to do trials. I think the prospects are very good but it is not completely certain.

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Meet Dr Sarah Gilbert, one of the scientists leading the race to find a coronavirus vaccine - The Indian Express