Category Archives: Genetics

China to Fast-Track Coronavirus Vaccine Trial Based on Advanced Genetics Technology – The Wall Street Journal

A research institute run by Chinas military received approval to conduct human clinical trials of a new Covid-19 vaccine developed using advanced genetics technology, in a notable breakthrough for Chinas quickly developing pharmaceutical industry.

The approval comes as other Chinese drugmakers move to expand testing of more traditional coronavirus vaccines outside China.

The...

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China to Fast-Track Coronavirus Vaccine Trial Based on Advanced Genetics Technology - The Wall Street Journal

PCOS subtypes associated with distinct genetic variations, finds study – News-Medical.Net

Researchers working on a National Institutes of Health (NIH) funded study found that polycystic ovary syndrome (PCOS) has distinct subtypes that are associated with genetic variations. Their study titled, "Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis," is published in the journal PLOS Medicine.

This study was funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Institute of Diabetes and Digestive and Kidney Diseases.

PCOS affects a large number of women, and authors of the study explain it as a "common, complex genetic disorder." They write that as many as 15 percent of women of reproductive age group suffer from this condition, and several diagnostic criteria can help in confirming the condition in a patient.

In women with PCOS, some of the common symptoms include irregular or missing periods, lack of or infrequent ovulation, raised levels of male sex hormones androgens in blood and associated features such as hirsutism or excessive facial hair. On ultrasound investigation, small cysts are detected on the surface of the ovaries. These women are at risk of being overweight and obese and may develop heart disease and type 2 diabetes and metabolic syndrome with time.

Image Credit: Marochkina Anastasiia / Shutterstock

There are several diagnostic criteria for the detection of PCOS. These are mainly based on expert opinions and consensus. Several controversies exist in these diagnostic criteria for PCOS, the team wrote.

There is a variation of physical features and physical symptoms among patients with PCOS. These are called phenotypic variations. In a recent study across populations with European ancestry, it was noted that the genetic makeup of women suffering from PCOS was distinctly similar despite being labeled using different diagnostic criteria. They write that this suggests that these diagnostic criteria "do not identify biologically distinct disease subtypes."

The objective of this study was thus to "test the hypothesis that there are biologically relevant subtypes of PCOS." Researcher Andrea Dunaif, MD, Chief of the Hilda and J. Lester Gabrilove Division of Endocrinology, Diabetes and Bone Disease at the Mount Sinai Health System, explained, "We're starting to make headway on what causes PCOS. It's very frustrating for patients because it's poorly understood, and patients often see several physicians before PCOS is diagnosed." Dunaif added, "Through genetics, we're beginning to understand the condition and may have specific targeted therapies in the not-too-distant future."

Study participants were a genotypical cohort. The biochemical data and the genotype data from these women was obtained from the "PCOS genome-wide association study (GWAS)." They made connections with the genotypes and the phenotypic or physical subtypes of the condition. A total of 893 women were included in the study. Their age range was between 25 and 32 years, and body mass index was between 28.2 and 41.5. These genotypic clusters were replicated in another cohort, which were not genotyped. Here there were 263 PCOS cases with an age range of 24 to 33 years and BMI ranging between 28.4 and 42.3.

On clustering analysis, the team found two distinct subtypes of PCOS. These were

On genotyping the initial cohort and dividing them into the two types of PCOS, several genetic characteristics were detected. The findings were:

A separate predictive model was developed to see if the cases tended to cluster in families. They found that 73 women with PCOS within an age range of 25 and 33 and BMI range of 27.8 and 42.3 kg/m2, usually "tended to cluster in families and that carriers of previously reported rare variants in DENND1A". The team wrote that this gene variant is known to regulate the synthesis of androgens or male hormones in the body.

The authors said that this initial study was conducted only among women with European ancestry who were diagnosed based on the National Institutes of Health (NIH) criteria. More extensive studies with a wide-ranging population would be more conclusive.

The researchers wrote that they "found reproducible reproductive and metabolic subtypes of PCOS," and these subtypes were "associated with novel, to our knowledge, susceptibility loci." They wrote that these subtypes had distinct genetic architecture.

Dr. Dunaif said, "In contrast to classifying disorders based on expert opinion, this is a very powerful objective approach to categorizing syndromes like PCOS into distinct subtypes with different causes, treatment, and clinical outcomes."

The team wrote, "Women with PCOS may be poorly served by being grouped under a single diagnosis because PCOS subtypes may differ in responses to therapy and in long-term outcomes."

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PCOS subtypes associated with distinct genetic variations, finds study - News-Medical.Net

Researchers identify novel genetic variants linked to Type 2 diabetes – Penn: Office of University Communications

After examining the genes of more than 200,000 people all over the world who have Type 2 diabetes, researchers from thePerelman School of MedicineandtheVeterans Health Administrations (VHA)Corporal Michael J. Crescenz Veterans Affairs Medical Center found hundreds of genetic variants never before linked to the disease. The study also identified gene variants that vary by ethnicity, as well as variants tied to conditions related to Type 2 diabetes like coronary heart disease and chronic kidney disease. This expansive genetic investigation, the largest of its kind, has the potential to dramatically impact care for millions of people worldwide who suffer from this disease. The study is published inNature Genetics.

Using data from the worlds biggest biobanktheMillion Veteran Program (MVP)in the VHAplus the DIAGRAM Consortium, the UK Biobank, the Penn Medicine Biobank, and Biobank Japan, the researchers analyzed a study population of 1.4 million people around the world, of which almost 230,000 people had Type 2 diabetes. From there, they broke down the genetic makeup of those hundreds of thousands of people and found 558 independent genetic variants that are differentially distributed between people with and without Type 2 diabetes, 21 being European-ancestry-specific and seven African American-ancestry specific. Of the 588 variants found, 286 had never before been discovered.

Researchers then set out to see if certain genetic variants among this group of people could be tied to specific Type 2 diabetes-related diseases.

Ultimately, three were linked to coronary heart disease, two to acute ischemic stroke, four to retinopathy, two to chronic kidney disease, and one to neuropathy, saysMarijana Vujkovic, a biostatistician at both the Perelman School of Medicine, VHAs CMCVAMC and a co-leader for the VHAs national MVP Cardiometabolic Working Group. Building on this research, the scientific community can assess which of the surrounding genes nearby the identified genetic variants is likely to be the causal gene that alters the risk of Type 2 diabetes, and that could lead to early interventions to limit controllable risks of developing the condition.

Read more at Penn Medicine News.

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Researchers identify novel genetic variants linked to Type 2 diabetes - Penn: Office of University Communications

Genetics study helps tiger conservation The Shillong Times – The Shillong Times

By Natasa Milas

Preserving the tiger population in the Indian subcontinent is a passion with Uma Ramakrishnan, an assistant professor at the National Centre for Biological Sciences (NCBS), Bengaluru, and one of Indias leading scientists. Her work focuses on population genetics and the evolutionary history of mammals.Data from Ramakrishnans work has been used for creating and improving plans for conservation of tigers in a rapidly urbanising India. In 2013, Ramakrishnan and her teams data was used as evidence in the Supreme Court to petition for an underpass for the widened National Highway 7 to enable tiger connectivity between Kanha and Pench tiger reserves in Madhya Pradesh.Ramakrishnan was a 2015-16 Fulbright-Nehru Academic and Professional Excellence Fellow at Stanford University, California. She is the first Indian to win the Parker/Gentry Award, administered by The Field Museum in Chicago in recognition of her work on conservation efforts. Excerpts from an interview:

How did you become interested in population genetics?I was always interested in the natural world and in understanding animal behaviour. I was lucky to grow up on the Indian Institute of Science campus in Bengaluru. My curiosity as a child always extended beyond simply observing the natural world. I asked myself: Why do animals behave the way they do? What is actually transpiring in these animal populations? Early on, I realised that there was a hidden layer of information that we were not considering DNA and genetic variation.After high school, I accompanied my family to Princeton University, USA, where my father was on a sabbatical. There I spent time in a molecular ecology lab and could gain deep insights into biology by understanding this hidden information layer. I knew then that I wanted to use a genetics lens to study wildlife populations.After my studies, I was lucky to get a job at the National Centre for Biological Sciences, part of the Tata Institute of Fundamental Research, Bengaluru. I was their first hire in the ecology and evolution area. Soon after, I got a call from conservation zoologist and tiger expert Ullas Karanth, asking if I was interested in working on tigers and their genetics. My journey over the last 15 years or so at NCBS, understanding tigers and other Indian biodiversity, has been incredibly exciting.

How is your work helping to preserve the tiger population in India?The future of tigers is really in our hands. Thanks to the efforts of the Government of India, several tiger populations have recovered. The viability and future survival of these populations will be contingent on our ability to maintain connectivity between them.I hope our research has and will continue to fill the gap between science, management and policy. We are currently working on an isolated population of tigers in Rajasthan and I hope our research insights will help plan what may be the best way to ensure long-term survival of this population.

How has your experience at the Stanford University as a Fulbright Fellow helped your current work in India?This was a really great opportunity. After nine years at NCBS a sabbatical sounded great. I was outside my comfort zone at Stanford University, the academic mecca for population genetics. Additionally, Stanford is nestled in the San Francisco Bay Area, where many conservation NGOs and start-up companies at the forefront of new genomic technologies are based.The amazing thing about being outside your comfort zone is that its empowering. With colleagues at Stanford, we turned what has typically been a challenge for conservation genetics non-invasive or poor-quality DNA samples into a strength. We asked whether we could develop cheap, reliable and fast methods that used novel genomic technologies to work on poor-quality samples. While there, my colleagues and I set up the Program for Conservation Genomics. Our goal was to provide simple-to-use genetic approaches to on-ground conservationists. We are still working together to make this a reality.

What are some of the biggest challenges in your work?Permissions to work in protected areas are always very challenging. Then, there are the things you really have no influence over. It rains and, well, your samples collected over the next few days are unlikely to have DNA or yield results. Sometimes, we work with large teams or in areas which are very difficult (for example, high elevation), inaccessible or not very politically stable.

What are your future research plans?I would really like to build partnerships with other tiger researchers across Asia. The methods we developed while at Stanford are going to be generalizable across tiger range countries. One of the goals is that everyone across the world can use a common platform for analyses, so that the data is comparable. Critical to this effort, however, is that each country builds an ecosystem to generate and analyze their genetic data on tigers locally.We are working hard to understand the impacts of inbreeding or mating between relatives on small and isolated tiger populations. This is a big ask for a species like tiger, but I am hoping the detailed work we are doing could shed some light on this problem, which is sure to become more common with time.I hope that our research can contribute in whatever small way to reverse biodiversity loss. (SPAN-TWF)

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Researchers identify environmental components that affect gene expression in cardiovascular disease – The South End

A research team led by Francesca Luca, Ph.D., associate professor of Wayne State Universitys Center for Molecular Medicine and Genetics, has published a study that annotated environmental components that can increase or decrease disease risk through changes in gene expression in 43 genes that could exacerbate or buffer the genetic risk for cardiovascular disease. Their results highlight the importance of evaluating genetic risk in the context of gene-environment interactions to improve precision medicine.

Interpreting Coronary Artery Disease Risk Through GeneEnvironment Interactions in Gene Regulation was published in Genetics, the journal of the Genetics Society of America.

The study, said Dr. Luca, also of the WSU Department of Obstetrics and Gynecology, illustrates that combining genome-wide molecular data with large-scale population-based studies is a powerful approach to investigate how genes and the environment interact to influence risk of cardiovascular disease.

By identifying regions of DNA important for endothelial cell response to different common environmental exposures, the researchers discovered that caffeine can influence the risk of cardiovascular disease. The study demonstrates the potentially beneficial and/or detrimental effects of certain environmental exposures on the cardiovascular disease risk differ depending on individual DNA sequence.

The study focused on cardiovascular disease, Dr. Luca said, because it is the leading cause of death, both in the United States and worldwide. Also, the disease is highly multifactorial, with large contributions from both environmental and genetic risk factors. By treating endothelial cells under a controlled environment, we can discover how these genetic and environmental risk factors influence each other at the molecular level, she said. Our lab has developed expertise in cardiovascular research, with additional projects using endothelial cells to develop new assays to test the regulatory activity of genetic variants. The approach outlined in this paper can be applied to many different diseases; for example, our lab has also focused on how bacteria in the human gut affect gene expression in the colon, and also on the effect of psychosocial stress on asthma.

While the work identified regions of the genome important for how endothelial cells respond to the environment and can influence the risk of cardiovascular disease, the researchers do not yet know exactly which genetic variants are directly responsible. A former graduate student, Cynthia Kalita, developed an assay to test thousands of genetic variants for gene regulatory activity. The researchers can test the variants discovered in their study using that assay to validate and explore the mechanisms by which they exert their effects, Dr. Luca said. They also are developing computational/statistical methods that can yield better personalized risk scores.

We have extended our approach to study cardiomyocytes, which are the muscle cells of the heart. Healthy heart tissue is difficult to obtain, so we have collaborated with researchers at the University of Chicago to derive cardiomyocytes from stem cells, Dr. Luca said. This will allow us to shift our focus from the vasculature to the heart itself, where we can study diseases like cardiomyopathies and arrhythmias.

As the cost of DNA sequencing continues to decrease, Dr. Luca expects that genetic testing will play a greater role in preventive health care. To fully realize the potential of precision medicine, we need to consider both genetic and environmental risk factors of disease, and how they interact. While there are already direct-to-consumer tests that prescribe an individualized diet based on DNA, these products currently offer no demonstrated clinical value. However, with very large numbers of individuals for whom we have both DNA sequencing and information on diet and lifestyle, we may one day be able to offer better recommendations.

Others involved in the study included Anthony Findley, an M.D./Ph.D. student; Allison Richards, Ph.D., a research scientist; Cristiano Petrini, of the Center for Molecular Medicine and Genetics; Adnan Alazizi, lab manager; Elizabeth Doman, of the Center for Molecular Medicine and Genetics; Alexander Shanku, Ph.D., research scientist; Gordon Davis, of the Center for Molecular Medicine and Genetics; Nancy Hauff, Department of Obstetrics and Gynecology; Yoram Sorokin, M.D., professor of Obstetrics and Gynecology; Xiaoquan Wen, of the Department of Biostatistics at the University of Michigan; and Roger Pique-Regi, Ph.D., associate professor of the Center for Molecular Medicine and Genetics, and of the Department of Obstetrics and Gynecology.

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Researchers identify environmental components that affect gene expression in cardiovascular disease - The South End

Listen: The latest on Covid-19, vaccine politics, and diversifying genetics – STAT

Can a vaccine be an October surprise? Are journal publishers running a racket? And why is genetics so white?

We discuss all that and more this week on The Readout LOUD, STATs biotech podcast. First, we run through a busy week in news, discussing the results of a major study on Covid-19 treatment, an escalating fight in the publishing world, and the drug industrys biggest-ever IPO. Then, physician and health care policy expert Ezekiel Emanuel joins us to discuss his nightmare scenario: President Trump, desperate for re-election, forces the approval of an ineffective coronavirus vaccine. Finally, we talk to geneticist Tshaka Cunningham about the deep racial inequities in the field of genomics and what can be done to correct them.

For more on what we cover, heres the news on a potential Covid-19 treatment; heres more on the the fight over academic publishing; heres a look at inequality in genetics; and heres the latest in STATs coronavirus coverage.

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A geneticist advocates for diversity and fixing his industry in the process – STAT

Over the past few weeks, 23andMe and other genetic testing companies have made headlines for releasing candid statements acknowledging that their field and their products are too white. Its a problem with which geneticist Tshaka Cunningham is all too familiar.

As executive director of the nonprofit Faith Based Genetic Research Institute, Cunningham has traveled widely to speak at Black churches about the value of genetic research. And as co-founder and chief scientific officer of a genetics startup called TruGenomix, hes working to recruit more diverse cohorts to build a genetic test for gauging risk of developing PTSD.

Cunningham recently called in to STATs podcast, The Readout LOUD, to discuss genetics and racial inequity and what needs to be done to make the field actually reflect the worlds diversity.

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The transcript of the conversation has been lightly edited for clarity.

So, Tshaka, what do you make of the reckoning that weve seen in the past couple weeks from 23andMe and other genetics companies on these issues?

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You know, I think its actually a really good thing. I was glad to see it from the highest levels from these companies acknowledging an issue that many of us in the research community have known about for quite a long time, which is this lack of representation of diverse genomes in all of our studies and products. Im glad its starting to get deeper attention because I think it is a key issue thats going to impact the effectiveness of all of these tools over time.

Im looking forward to seeing some positive things that they will do to address it. So, you know, the first step is admitting you have a problem and then you go through the steps to rehabilitate. Im hoping that some positive things will come out of this.

What kinds of questions about genetics do you hear from the communities you speak with?

All kinds of questions. And first of all, I say, you know, the work that were doing with the Faith Based Genetic Research Institute is very unique in that we are bringing together individuals from the faith communities with scientists who are also people of color, and one of our guiding principles in the work that we do in the community is called the honest broker philosophy. That is, those of us who are imparting the information to the community are also from the community. And what we found is that it really helps us establish a better bond of trust for folks to be able to receive the information.

Some of the questions that we get when we talk about the value and the benefits of genetic research is the first questions are, you know, are they going to use it to hurt me? Thats the first question we get a lot from African American participants. And, you know, what will they do with the information? Theres a fair bit of distrust out there. And some of it is quite warranted from past transgressions of the medical establishment on the African American community. But once you sort of talk through those issues with folks and really kind of allow them to see some of the potential benefits, then you start getting a high level of interest.

So lets say 23andMe, for example, or one of the large companies, were to call you and ask for advice on what to do to make their products less Eurocentric and more inclusive. What would you tell them?

Start by making sure that your team, your executive team specifically, is representative of the community. A lot of companies sort of say, well, we cant find them. Any company needing to find a talented minority geneticist give me a call. Ive got a long list.

The second step would be to really use some of your resources to sponsor more research in this area. I mean, part of the challenge is also a financial and economic challenge. When you think about the economic disparities that have existed in America based on racial lines you know, the average African American has seven times less wealth than the average Caucasian. So they might not have even a hundred bucks to spend on something like genetic testing that could benefit them.

And then theres also the messaging. I think to the extent that these companies could help organizations like ours, the Faith Based Genetic Research Institute, other academic institutions, with messaging about the importance or the potential benefits of this, that would be great.

Now, I know thats a fine line that they have to walk because, you know, you dont want to seem coercive. But at the same time, I think trying to really do authentic outreach to the community would start with having more of your employees be from the community and then having a dedicated effort of that kind of outreach within your operation.

One of the more controversial questions in this conversation is around compensation. So what do you think? Do you think that 23andMe should pay people in the Black community and other underrepresented populations for their data?

I believe anybody that contributes their data should have the opportunity to get paid for it if its used. I do not believe in coercing someone to contribute their data with payment. But if Im an individual who has contributed and then you go and use my my data lets say a pharma company buys access to my data and I dont see any benefit from it, then that feels a bit un-American and I just dont feel like its fair. But thats my personal opinion.

So lets talk a little bit about polygenic risk score tests, which really encapsulate the diversity problems in genetics. So, for readers who are unfamiliar with them, these are tests that gather multiple genetic variants together and use them to predict someones chances of developing a disease. So far, many commercial polygenic risk score tests have come off warnings that theyre not very accurate or are even useless in people who are not of European ancestry. But your startup, TruGenomix, is working on a polygenic risk score test to try to gauge risk for developing PTSD. And youre trying to build the test using more diverse data. Tell us about your approach.

Ive recognized the importance of diversity in your datasets. From my earliest days, when I was at the Department of Veterans Affairs, we had a large genomics project called the Million Veteran Program. And part of my contribution to that project was to make sure that minority veterans participated. And so we actually went to great effort to ensure that. And that project has done very well to the credit of the VA, to recruit minority veterans. So that data set is going to provide some rich understanding, or has that potential to provide rich understanding, in polygenic risk for minority communities.

I took some of what I learned there from having to really take the time to do the outreach to the communities, to make sure that the end products are representative. I think that is just core to our actual DNA as a company. I think part of that has to do with the fact that were one of the very few minority-owned genomics companies in the country right now. This was top of mind for us. We wanted to make sure that whatever products we were putting out, the polygenic risk related to all communities, specifically the African American community, which my founders and I come from. It was just a very important thing for us to do not only for societal and ethical reasons, but also for scientific integrity reasons, because as a scientist, I dont believe in putting out products that arent probably applicable to all communities.

So why havent other makers of polygenic risk score tests taken this more holistic approach?

You know, I cant speak for them. I mean, I dont know. Thats a question that I have. I would hope that they take a deeper look at it. Maybe their market calculations were, OK, the people using genetic tests now tend not to be people of color. And therefore, we dont need to care about them. I dont know. Youll have to ask them that question.

All I could say is that I hope that all of the companies that are making these kinds of tests really take diversity seriously. Ive given lectures around diversity and genetics in the past. The majority of the DNA in the world is not of Caucasian origin. Its actually of Asian origin. And then African and Latino. And then Caucasians are only maybe about 14% of all the DNA out there just based on population. So when you think about it in that respect, if you really want to have a genome that is globally applicable, then youd really need to focus on its diversity.

Tshaka, thank you for coming on the podcast today.

Great. Its great being with you all today.

Theresa Gaffney contributed to this report.

This is a lightly edited transcript from arecent episodeof STATs biotech podcast, The Readout LOUD. Like it?Consider subscribing to hear every episode.

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A geneticist advocates for diversity and fixing his industry in the process - STAT

Human Genetics Market Analysis with Key Players, Applications, Trends and Forecasts to 2026 – Farmers Ledger

The Human Genetics market report Added by Market Study Report, LLC, enumerates information about the industry in terms of market share, market size, revenue forecasts, and regional outlook. The report further illustrates competitive insights of key players in the business vertical followed by an overview of their diverse portfolios and growth strategies.

The research report on Human Genetics market offers a thorough analysis of this industry vertical, while evaluating all the segments of the market. The study provides significant information concerning the key industry players and their respective gross earnings. Additionally, crucial insights regarding the geographical landscape as well as the competitive spectrum are entailed.

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This report considers the below mentioned key questions:

Q.1. What are some of the most favorable, high-growth prospects for the global Human Genetics market?

Q.2. Which products segments will grow at a faster rate throughout the forecast period and why?

Q.3. Which geography will grow at a faster rate and why?

Q.4. What are the major factors impacting market prospects? What are the driving factors, restraints, and challenges in this Human Genetics market?

Q.5. What are the challenges and competitive threats to the market?

Q.6. What are the evolving trends in this Human Genetics market and reasons behind their emergence?

Q.7. What are some of the changing customer demands in the Human Genetics Industry market?

Table of Contents:

Executive Summary: It includes key trends of the Human Genetics market related to products, applications, and other crucial factors. It also provides analysis of the competitive landscape and CAGR and market size of the Human Genetics market based on production and revenue.

Production and Consumption by Region: It covers all regional markets to which the research study relates. Prices and key players in addition to production and consumption in each regional market are discussed.

Key Players: Here, the report throws light on financial ratios, pricing structure, production cost, gross profit, sales volume, revenue, and gross margin of leading and prominent companies competing in the Human Genetics market.

Market Segments: This part of the report discusses about product type and application segments of the Human Genetics market based on market share, CAGR, market size, and various other factors.

Research Methodology: This section discusses about the research methodology and approach used to prepare the report. It covers data triangulation, market breakdown, market size estimation, and research design and/or programs.

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Human Genetics Market Analysis with Key Players, Applications, Trends and Forecasts to 2026 - Farmers Ledger

Podcast: The dark connection between cancer research and the eugenics movement – Genetic Literacy Project

Geneticist Dr. Kat Arney explores the stories of two women one a scientist fascinated by dancing mice, the other a seamstress with a deadly family legacy who made significant contributions to our understanding of cancer as a disease driven by genetic changes. Yet while their work paved the way for lifesaving screening programs for families, it was used by some as justification for eugenics the idea of removing genetic defectives from the population.

Born in Minnesota in 1879, Maud Slye was a cancer pathologist who dedicated her career to studying patterns of cancer inheritance in more than 150,000 mice. But as well as being a dedicated scientist (as well as a part-time poet), she was also wedded to eugenic ideas, suggesting that If we had records for human beings comparable to those for mice, we could stamp out cancer in a generation. At present, we take no account at all of the laws of heredity in the making of human young. Do not worry about romance. Romance will take care of itself. But knowledge can be applied even to romance.

While her ideas were controversial, Slyes work earned her a gold medal from the American Medical Society in 1914 and from the American Radiological Association in 1922. She was also awarded the Ricketts Prize from the University of Chicago in 1915 and an honorary doctorate from Brown University in 1937. She was even nominated for a Nobel prize in 1923.

Over the decades since Slyes death in 1954, weve come to understand that the hereditary aspects of cancer susceptibility are much more complicated than she originally suggested, although her work was vital in establishing inherited gene variations as an essential thread of cancer research.

Running parallel to Slyes work in mice was the research carried out by Aldred Warthin, a doctor working at the University of Michigan in Ann Arbor. One day in 1895, a chance meeting between Warthin and a local seamstress, Pauline Gross, set the two of them off on a 25-year-long quest to understand why so many members of Paulines family had died from cancer at a young age.

Pauline spent years compiling detailed family histories, enabling Warthin to trace the pattern of inheritance through Family G, as it became known. Like Slye, Warthin was a fan of eugenic ideas, describing Paulines family as an example of progressive degenerative inheritance the running-out of a family line through the gradual development of an inferior stock.

He was also quoted as saying in a 1922 lecture: Today it is recognized that all men are not born equal. We are not equal so far as the value of our bodily cells is concerned.

Perhaps as a direct result of growing public concern about eugenics, Warthins work fell out of favor. Paulines detailed genealogy lay undisturbed in a closet in the university until the 1960s, when American doctor Henry Lynch and social worker Anne Krush rediscovered her work and continued extending and investigating Family G.

Nearly a decade on from that first meeting between Pauline and Warthin, researchers finally pinned down the underlying genetic cause of this deadly legacy: an inherited variant of the MSH2 gene, which normally repairs mismatched DNA strands. Today, members of Family G and others around the world carrying dangerous variants in mismatch repair genes can undergo genetic testing, with a range of preventative and screening options available.

The story of Pauline and Family G, and the impact that their genetic legacy has had on the family down the generations, is beautifully told in the book Daughter of Family G, a memoir by Ami McKay.

Full transcript, links and references available online atGeneticsUnzipped.com

Genetics Unzippedis the podcast from the UKGenetics Society,presented by award-winning science communicator and biologistKat Arneyand produced byFirst Create the Media.Follow Kat on Twitter@Kat_Arney,Genetics Unzipped@geneticsunzip,and the Genetics Society at@GenSocUK

Listen to Genetics Unzipped onApple Podcasts(iTunes)Google Play,Spotify,orwherever you get your podcasts

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Podcast: The dark connection between cancer research and the eugenics movement - Genetic Literacy Project

In Brief This Week: Thermo Fisher Scientific, Myriad Genetics, Fulgent Genetics, and More – 360Dx

NEW YORK Thermo Fisher Scientific said this week that the US Food and Drug Administration has granted Breakthrough Device Designation for its Oncomine Precision Assay to identify low-grade glioma patients with isocitrate dehydrogenase 1 and 2 mutations and who may be eligible for treatment with vorasidenib (AG-881). The assay is designed to run on the Ion Torrent Genexus sequencing platform. Thermo Fisher is codeveloping a companion diagnostic for vorasidenib with Agios Pharmaceuticals.

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In Brief This Week: Thermo Fisher Scientific, Myriad Genetics, Fulgent Genetics, and More - 360Dx