Category Archives: Human Genetics

This week 23andMe made Fast Company's first annual list of "Brands that Matter," an award honoring companies and nonprofits with a mission or ideals that have had a cultural impact and are relevant and authentic.

This new award singles out 95 organizations that, like 23andMe, have inspired people and given them compelling reasons to care about innovation, or social issues, cultural issues, the environment, or their fellow humans. Among those on the list are not just massive multinational conglomerates, but also small companies and nonprofits. All of them have forged an emotional or meaningful connection with people. All were judged on their relevancy, cultural impact, ingenuity, and business innovation.

"Fast Companyis excited to highlight companies and organizations that have built brands with deep meaning and connections to the customers they serve," said Stephanie Mehta, editor-in-chief of Fast Company. "At a time when consumers are holding companies to very high standards, businesses have much to learn from these brands that have garnered respect and trust."

Lead with Science

It's that trust that is probably most important to 23andMe's brand, said Tracy Keim, Vice President of Consumer Marketing and Brand at 23andMe.

"It started with Anne Wojcicki, (23andMe's CEO and Co-Founder)," Tracy said. "She co-founded 23andMe to help people - to be a brand that made a difference in people's lives - we were a brand born out of purpose, not profit."

23andMe is also a brand driven by science. And Fast Company pointed to two of our more recent very large scientific initiatives in singling out 23andMe for this award.

The first was a study using genetics to look at the human impact of the transatlantic slave trade, as part of the largest study to date of people with African ancestry in the Americas. The second is an ongoing study on the genetics associated with differences among people in susceptibility to and severity from COVID-19that involved more than a million research participants. Several findings from that study have already been published or shared, and our researchers are currently investigating the genetics of COVID-19 "long-haulers."

"It's exciting to see this list of brands making a difference," said Tracy. "We're all interested in solutions through action, not just advertising. One of 23andMe's core values is to 'lead with science.' DNA data can tell us so much about problems we confront today and in the future - whether it's studying COVID-19 or our fraught racial history, or important health issues - our team of researchers have big hearts and open minds and go where the science leads them."

Mission Driven

It's been almost two decades since the mapping of the human genome, the most significant scientific breakthrough of our generation. 23andMe works to bring the power of genetic science to everyone. As a brand, 23andMe has always been mission-driven, focused on helping people access, understand, and benefit from the human genome. We created an industry offering people direct access to their genetic information, as well as an opportunity to participate in research if they choose. We share our research findings and ensure that those who participate in research know we've done it through solid science and innovation, but also with whimsy and a human touch.

You can find a complete list of winnershere.

23andMe will be featured along with the other honorees in theNovember issue of Fast Companymagazine, which is available onlinenowand will be on newsstands beginning November 2, 2021.

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23andMe Honored in Fast Company's First Annual List of Brands That Matter - Marketscreener.com

Dr. Luca Benatti to Chair SAB

BETHESDA, Md., Oct. 26, 2021 (GLOBE NEWSWIRE) -- Gain Therapeutics, Inc. (Nasdaq: GANX) (Gain, or the company), a biotechnology company focused on identifying and optimizing allosteric binding sites never before targeted in neurodegenerative diseases and lysosomal storage disorders, today announced the formation of its Scientific Advisory Board (SAB). Luca Benatti, Ph.D. will serve as chair of the SAB. Additional appointments include Samuel Broder, M.D.; Lorenzo Leoni, Ph.D.; Joanne Taylor, Ph.D.; and Michel Vellard, Ph.D.

I am honored to welcome Dr. Benatti, Dr. Broder, Dr. Leoni, Dr. Taylor and Dr. Vellard to our advisory board and want to express my gratitude for their scientific contributions as we continue to expand our pipeline and progress Gain Therapeutics lead program in Parkinsons Disease toward clinical studies, said Eric Richman, Chief Executive Officer of Gain. These individuals are luminaries in their respective fields and will perform significant roles in shaping our future clinical programs. And I would like to especially thank Dr. Benatti for his commitment to serve as chair of our SAB.

Luca Benatti, Ph.D., Chair of the Scientific Advisory BoardDr. Benatti will lead Gains SAB and work closely with the companys leadership team to shape the scientific strategy and advance Gains early-stage programs. He has over 30 years of experience in the pharmaceutical and biotechnology industries. Dr. Benatti serves as the Chief Executive Officer and a Director of EryDel S.p.A., a private biotechnology company focused on rare diseases. Prior to EryDel, Dr. Benatti was Co-founder and CEO of Newron Pharmaceuticals S.p.A. Under his leadership, Newron developed a pipeline of innovative therapies including Xadago, approved worldwide for the treatment of Parkinson's Disease. Previously, Dr. Benatti held research and development positions at Pharmacia & Upjohn and its predecessor companies. Dr. Benatti has authored several scientific publications and holds a number of patents. He currently serves as a director of Intercept Pharmaceuticals, Newron Pharmaceuticals S.p.A. and Metis Precision Medicine. Dr. Benatti also serves as chairman of Italian Angels for Biotech, a member of the Advisory Board of the Sofinnova Telethon Fund, and as a member of the Development and of the Strategic Advisory Boards of Zambon S.p.A. Dr. Benatti graduated and performed post-doctoral work at the Milano Genetics Institute.

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Samuel Broder, M.D.Dr. Broder has been at the forefront of science and medicine in many diverse arenas throughout his career. He is the former Director of the National Cancer Institute (NCI), appointed by President Ronald Reagan, where he oversaw the development of numerous anti-cancer therapeutic agents, as well as the first three agents approved by the FDA specifically to treat the AIDS virus. In addition, Dr. Broder oversaw the launch of several large-scale clinical trials related to the prevention, diagnosis, and treatment of cancer. He has held various executive positions within biopharmaceuticals companies, including EVP for Medical Affairs and Chief Medical Officer at Celera Corporation where he helped advance the human genome project. He is the author and co-author of over 340 scientific publications and holds many patents. Dr. Broder was elected to the National Academy of Medicine in 1993. He graduated from the University of Michigan Medical School and completed his residency in Internal Medicine at Stanford University.

Lorenzo Leoni, Ph.D.Dr. Leoni is a scientific serial entrepreneur and founder of six biomedical companies in the US and in Europe with an extensive network within academic, financial and industrial biotech and medtech industries. Mr. Leoni is a co-founder of Gain Therapeutics and currently serves as Chairman of the Board of Industrie Biomediche Insubri SA, a board member of Artificaly SA, and a managing partner of TiVenture SA, investing in biomedical, medical devices, industrial high-tech, digital health and other high potential companies. Dr. Leoni received his Ph.D. in biochemistry from University of Lausanne and completed his post-doctoral fellowship at the University of California San Diego, where he served as Assistant Professor in the department of Medicine, Division of Hematology Oncology.

Joanne Taylor, Ph.D.Dr. Taylor has over 25 years experience in the neuroscience industry. She served as vice president for Prescient Healthcare Group where she headed up their neuroscience business, advising on portfolio, clinical and regulatory strategies of a wide array of global top 25 pharmaceutical company clients. While at Eisais London Research Laboratories and European Headquarters, she directed global teams in the discovery of novel therapeutic strategies for neurological conditions, such as Alzheimers, multiple sclerosis, and Parkinsons Disease. Dr. Taylor received a Ph.D. in Developmental Neuroscience from Kings College London and completed a postdoctoral fellowship and senior research post at the ETH in Zurich.

Michel Vellard, Ph.D.Dr. Vellard currently serves as chief scientific officer for Home Biosciences. He has over 25 years of experience in translational biology, including co-founding Audacity Therapeutics, serving as vice president of research at Ultragenyx Pharmaceuticals, and head of lysosomal biology and principal scientist at BioMarin. More than 10 rare diseases treatments that Dr. Vellard has worked on have been approved by the FDA and EMA (enzyme replacement therapy for Morquio syndrome approved in 2014, etc.). Dr. Vellard holds multiple patents and has authored and co-authored many research publications. He received his Ph.D. in Virology from Pasteur and Curie Institutes and from Paris VI, VII, XI Universities. Dr. Vellard accomplished his post-doctoral fellowship at UCLA.

About Gain Therapeutics, Inc. Gain Therapeutics, Inc. is positioned at the confluence of technology and healthcare and focused on redefining drug discovery with its SEE-Tx target identification platform. By identifying and optimizing allosteric binding sites that have never before been targeted, Gain is unlocking new treatment options for difficult-to-treat disorders characterized by protein misfolding. Gain was established in 2017 with the support of its founders and institutional investors. It has been awarded funding support from The Michael J. Fox Foundation for Parkinsons Research (MJFF) and The Silverstein Foundation for Parkinsons with GBA, as well as from the Eurostars-2 joint program with co-funding from the European Union Horizon 2020 research and Innosuisse. In July 2020, Gain Therapeutics, Inc. completed a share exchange with Gain Therapeutics, SA, a Swiss corporation, whereby GT Gain Therapeutics SA became a wholly owned subsidiary of Gain Therapeutics, Inc.

For more information, please visit https://www.gaintherapeutics.com

Forward-Looking StatementsAny statements in this release that are not historical facts may be considered to be forward-looking statements. Forward-looking statements are based on managements current expectations and are subject to risks and uncertainties which may cause results to differ materially and adversely from the statements contained herein. Such statements include, but are not limited to, statements regarding the market opportunity for Gains product candidates, the business strategies and development plans of Gain, and the timing of preclinical and clinical studies. Some of the potential risks and uncertainties that could cause actual results to differ from those expected include Gains ability to: make commercially available its products and technologies in a timely manner or at all; enter into strategic alliances, including arrangements for the development and distribution of its products; obtain intellectual property protection for its assets; accurately estimate and manage its expenses and cash burn and raise additional funds when necessary. Undue reliance should not be placed on forward-looking statements, which speak only as of the date they are made. Except as required by law, Gain does not undertake any obligation to update any forward-looking statements to reflect new information, events or circumstances after the date they are made, or to reflect the occurrence of unanticipated events.

Investor & Media Contacts:Gain Therapeutics Investor Contact:Daniel FerryLifeSci Advisors+1 (617) 430-7576daniel@lifesciadvisors.com

Gain Therapeutics Media Contact:Joleen SchultzJoleen Schultz & Associates+1 760-271-8150joleen@joleenschultzassociates.com

Link:
Gain Therapeutics, Inc. Announces Appointment of Five Members to its Newly Formed Scientific Advisory Board (SAB) - Yahoo Finance

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Grant funds development of living factories to produce antibodies, anti-nerve agents

Researchers at Washington University School of Medicine in St. Louis have received a grant to develop the next generation of personal protective equipment (PPE) for combat troops. Harnessing the genetics of hookworms, the research is focused on developing "living factories" that produce antibodies and anti-nerve agents to protect against chemical and biological weapons.

Combat troops require special equipment to guard against chemical and biological agents that could be unleashed in a war zone. While such suits and respirators can protect against chemical and biological weapons, they are cumbersome and can limit mobility at the worst possible times.

Researchers at Washington University School of Medicine in St. Louis hope to improve soldiers options by developing the next generation of combat-ready personal protective equipment (PPE). Funding the work is a subcontract to the School of Medicine that is part of a $16.4 million contract awarded to U.S. research and development company Charles River Analytics from the U.S. governments Defense Advanced Research Projects Agency (DARPA).

The goal is to develop personalized protective biosystems that would include living factories of organisms genetically engineered to produce anti-nerve agents, antibodies or other biological antidotes to a variety of chemical or biological threats. The idea is that these living factories somewhat like the commensal bacteria comprising the gut microbiome would create a symbiotic relationship with the human body, secreting protective molecules into the bloodstream that could neutralize nerve agents or block weaponized viruses.

To achieve these goals, the Washington University team will harness knowledge of the genetics of helminths more specifically, organisms commonly known as hookworms.

We will explore ways to use hookworms to generate prophylactic molecules within a subjects body to neutralize threats that soldiers may encounter in war zones or other high-risk environments, said Makedonka Mitreva, PhD, a professor of medicine and of genetics.

Mitreva

Hookworms have evolved a sophisticated system to secrete molecules that allow them live in the healthy human gut for many years without causing major health problems, she said. Research has demonstrated that controlled hookworm infections in experimental settings do not cause adverse effects in healthy people. So, we will harness these elements of controlled hookworm infection, along with our ability to genetically modify these organisms to produce antibodies or other proteins that act as protective molecules from within the human body, to develop a next-generation system to protect combat troops from chemical and biological threats.

The hookworms potentially could be engineered to secrete enzymes that break apart or block neurotoxins, such as sarin gas, for example. Similarly, the hookworms could be genetically engineered to produce antibodies against dangerous bacteria, such as anthrax, or life-threatening viruses, such as Ebola and SARS-CoV-2.

Washington University is one of several subcontractor institutions funded on this contract by DARPA to develop advanced PPE for combat troops. Charles River Analytics in Cambridge, Mass., will lead the collaborators, which also include Baylor College of Medicine in Houston; George Washington University in Washington, D.C.; James Cook University in Australia; Leiden University Medical Center in the Netherlands; and the University of California, Irvine.

The Food and Drug Administration already has approved certain helminths, including hookworms, for investigational use in human clinical trials. Some of these helminths live in the upper intestine, and scientists are investigating their use in the treatment of gastrointestinal disorders and other diseases.

Some of the molecules that hookworms secrete have anti-inflammatory properties, Mitreva said. These organisms can survive longer when the environment they live in is healthy. So, they do what they can to help maintain that healthy gut environment. Because of this, other research groups have investigated certain helminths as therapies for inflammatory gastrointestinal diseases.

Mitreva also explained that hookworms cant reproduce inside the human gut, so in a controlled environment, the hookworms that make up the initial therapy can remain there for years without causing problems. Hookworms have a complex life cycle that includes free-living eggs and early larvae stages that must take place in soil. In a natural infection, people typically become infected by walking barefoot in parts of the world where hookworms are endemic. Such infections can lead to malnutrition in young children or cause health problems in those who are immunocompromised. But controlled hookworm infections with a set number of organisms given in a clinical trial setting have not been shown to cause problems in healthy adults. The infections also can be cleared from the body with widely available anti-helminthic drugs.

While Washington University researchers, including Sergej Djuranovic, PhD, an associate professor of cell biology & physiology, will focus on studying hookworms, other collaborators will work to develop other helminth species as living factories, and still others will focus on lightweight, flexible materials to produce personal protective garments that are easier to wear than current PPE for long periods of time and are more protective against chemical and biological threats.

This material is based upon work supported by the Defense Advanced Research Projects Agency (DARPA) and Naval Information Warfare Center Pacific, (NIWC Pacific) under Contract No. N66001-21-C-4013. Any opinions, findings and conclusions or recommendations expressed in this material are those of the authors and do not necessarily reflect the views of the DARPA or NIWC Pacific. Approved for public release, distribution unlimited.

Washington University School of Medicines 1,700 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, consistently ranking among the top medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Hookworms have potential to protect soldiers from chemical, biological weapons Washington University School of Medicine in St. Louis - Washington...

The Department of Human Genetics is both a basic science and a clinical department in the Faculty of Medicine at McGill. It has the dual challenge of promoting excellence in research and teaching in the basic science of human genetics and also a similar challenge for excellence in professional training and patient care. As part of its mission, the department is responsible for the training of basic scientists in the area of human genetics and also the training of genetic counsellors, medical students, and medical specialists in the various clinical areas of medical genetics. The concepts of genomics, epigenomics, proteomics, andmetabolomics are at the frontier of modern biology and medicine. How to translate advances in basic sciences to public policy remains to be determined. Our department is charged with the mission to translate this scientific advancement to the training of health care professionals and to patient care. Out of our administrative office in the Strathacona Anatomy & Dentistry Building, we aim to serve our faculty which is housed in the Research Institutes of the McGill teaching hospitals (MUHC, JGH, and Douglas), the Montreal Neurological Institute, the Life Sciences Complex, and the Innovation Centre.

The Genetics Community in Montreal is greatly enriched by a multitude of genetically oriented research programs within the classical disciplines of biomedical science not only at McGill, but also at the three other universities in the city, most notably theUniversit de Montral and its affiliated hospitals. The Department of Human Genetics has a central administrative core surrounded by clinical genetics units and research laboratories in diverse locations of the main university campus, and in the research institutes of the several teaching hospitals. The department is accredited for service and training (clinical, biochemical, cytogenetic, and molecular) by the Canadian College of Medical Geneticists (CCMG), and medical genetics training by the Royal College of Physicians and Surgeons in Canada and theCollge desMdecins du Qubec. The department coordinates Genetic Health-Care Services through the McGill University Health Centre, and participates fully in the teaching of human/medical genetics to baccalaureate, medical and postgraduate students. The department offers an M.Sc. in Genetic Counselling Training Program, and M.Sc. and Ph.D. Programs in Human Genetics.

Sincerely,

eric.shoubrige [at] mcgill.ca (Eric Shoubridge, PhD, FRSC, Chair)Tel: (514) 398-3600Fax: (514) 398-2430

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Human Genetics - McGill University

Illustration by Laurne Boglio

Hello, and welcome to Spectrums Community Newsletter. In this edition, were coming to you with social media musings from #ASHG21, which took place virtually (again) last week something several attendees lamented online.

According to Twitter chatter, the posters were particularly problematic. For one thing, the sessions offered no way to video chat spontaneously with presenters a serious shortcoming, said Gholson Lyon of Cold Spring Harbor Laboratory in New York. Seems like a no-brainer to do this!

Others struggled to even tune in. Am I dumb? asked Clement Chow, associate professor of human genetics at the University of Utah in Salt Lake City. People tweeting him breadcrumbs to the sessions commiserated, noting that the navigation was painful, the search function didnt work, and they seemed trapped in an endless loop of clicking between sites.

John Belmont, adjunct professor of molecular and human genetics at Baylor College of Medicine in Houston, Texas, held nothing back in a tweet about the virtual assistant chatbot.

And the lack of easy interaction with colleagues disappointed Tuuli Lappalainen, associate professor of systems biology at Colombia University. For me, conferences are less about the specific scientific content and more about connecting with people, she tweeted.

At least for conference attendees who missed the chance to sightsee in Montreal, Canada, where the meeting was originally slated to take place, genetic epidemiologist Marie-Julie Fav of the Ontario Institute for Cancer Research had them covered.

The meetings scientific content didnt disappoint. Spectrum covered some autism-specific findings, including unpublished results from two independent teams on the divergent effects of autism-linked genes on cognition and contributions to the condition coming from noncoding regions of the genome.

Jack Kosmicki, a statistician at Regeneron Genetics Center in Tarrytown, New York, lauded his teams study, published on 18 October in Nature, that sequenced the exomes of 454,787 U.K. Biobank participants and, unlike much previous work, analyzed all of the ancestries represented, not just the European ones.

Collaborator and Regeneron scientist Veera Rajagopal wrote a thread offering up four key insights from the landmark achievement.

Dont forget to register for our 28 October webinar, featuring Zachary J. Williams, a medical and doctoral student at Vanderbilt University in Nashville, Tennessee, who will speak about measuring alexithymia in autistic people.

Thats it for this weeks Community Newsletter! If you have any suggestions for interesting social posts you saw in the autism research sphere, feel free to send an email to chelsey@spectrumnews.org. See you next week!

Cite this article: https://doi.org/10.53053/JOHN8300

The rest is here:
Community Newsletter: Twitter dispatches from the American Society of Human Genetics annual meeting - Spectrum

NEW YORK Researchers from the UK and Switzerland are teasing out interconnections between gene expression, metabolites, and other genomic features in blood samples from hundreds of individuals over time to better understand the dynamic interactions behind aging and age-related disease.

"Multiomics data also has enormous utility in identifying the functional mechanisms underlying disease states, and linking genetic variants to their downstream effects on physiology," explained King's College London's Kerrin Small, a leader in genomics in the twin research and genetic epidemiology department, who shared the findings at the American Society of Human Genetics annual meeting on Thursday.

As part of the multiomic multiple tissue human expression resource, or MultiMuTHER, project, the researchers used RNA sequencing and metabolomics to track blood gene expression and metabolite profiles, respectively, in samples collected over time from 335 female TwinsUK participants. The participants came from both identical and non-identical twin pairs and ranged in age from roughly 30 to 85 years old at the time of their first sampling visit, Small said, noting that most of the individuals were in their 50s or 60s when the study began.

Over nine years, the team collected three or more samples from each participant, generating RNA-seq profiles for 16,292 genes that were analyzed in whole blood alongside Metabolon-based profiles for nearly 1,200 metabolites in matched blood serum samples.

From these longitudinal samples, the investigators found that the collection of expressed genes tended to remain steady within each individual. And while expression levels were sometimes dialed up or down with age across the participant population, the expression of specific genes sometimes bucked that trend within a subset of individuals, shifting in the opposite direction or remaining steady over time.

"We hope to use the other variables in the dataset to determine whether these individual trajectories are environmentally, clinically, or genetically driven," Small explained, noting that the analyses done so far have taken potentially confounding factors into account, such as participants' age at study onset, seasonality, and the cell type composition of blood samples.

Along with similar analyses on transcript splicing and metabolite profiles in the participants over time, the team went on to unearth more than 105,600 gene expression-metabolite associations, which involved more than 80 percent of the genes and 95 percent of the metabolites analyzed.

"Genes showing longitudinal change over time were found to have a higher number of gene-metabolite associations than those exhibiting stable expression," Small noted, "whereas metabolites exhibiting longitudinal variation did not show a difference in the number of associated genes."

Following up on such associations, the team took a closer look at everything from the nature of the most association-rich metabolites or environmental metabolites impacting gene expression to the stability of gene-metabolite associations over time and related genotypes.

As such analyses continue to progress, the researchers are also planning to layer on clinical phenotype data to try to tease out the potential consequences of the stable and variable associations they are uncovering.

"[W]e have performed one of the largest multiomic longitudinal studies of concurrently measured gene expression and metabolite levels in whole blood, identifying over 100,000 gene-metabolite associations," Small and her co-authors concluded in an abstract for the presentation, arguing that the study "provides novel insight into the interplay between gene expression and metabolites, and may inform systems-wide approaches to projection of temporal progression of age-related diseases."

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MultiMuTHER Team Tracks Expression, Metabolite Relationships in Aging TwinsUK Participants - GenomeWeb

How has the COVID-19 pandemic impacted the WISDOM study, both in participation rates and results?

The way it has impacted us, of course, was that we shut down for several months not able to work. I was over the age of 60, and the only thing I could do was to do video consultation with my patients. But what's been really remarkable is we also learned that that's probably the best way to reach those that we thought we couldn't reach, because it then made it convenient for women to sit in their home, to fill out a questionnaire, to then have kits sent to them because were doing the tests with saliva kits. While women were sitting at home, we got more participation of our breast cancer advocates and our breast cancer patients in survey questions. We also realized that COVID was all about testing, testing, testing.

The University of Chicago was one of the earliest centers to actually take testing into the community. We collaborated with the South Side Health Collaborative and South Side Health Care providers to provide testing in the community. And as a result of that, anyone who got tested and was positive for COVID, they got early access to clinical trials that we were doing at the University of Chicago, because it was now no longer about whether you had insurance or not. And we saved a lot of lives. Chicago now has a Chicago health equity initiative, because all of the academic centers now realized that you can't sit there and expect patients to come to you when they have no insurance.

So yes, it impacted us. But we're hoping that we can use the foundation work that we built during the pandemic to reach more women who otherwise would not have been able to participate. And that after the pandemic, we would be able toit doesn't matter whether you're in rural America, urban America, a low resource settingeveryone will have a chance to participate in life-saving clinical trials.

When we're looking at how COVID has impacted us, I think those who were not able to get screened, now if we identify them as the highest risk patients, they're going to be the first in line. And they have been the first in line to come in and get their mammogram, get their MRI. And I think testing and COVID hopefully will teach us how to organize health systems so that it works for the patient, not for us, right? It has to be patient centered.

So I think we will learn something. And using the platform of these clinical trials that were done during COVID to get people vaccinated, we hope will help us to improve the rates of participation in WISDOM by all patients, not just those who have the convenience of having Internet access in their offices.

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Dr Funmi Olopade on WISDOM During COVID-19: Reaching Participants We Thought We Couldn't Reach - AJMC.com Managed Markets Network

(Intermountain Healthcare) Astros Skuladottir, a researcher for deCODE genetics in Reykjavik, Iceland, speaks to reporters on Oct. 20, 2021, describing the study she led, which found six genetic variants linked to vertigo a study that used data from Utahns who entered Intermountain Healthcare's HerediGene DNA project.

| Oct. 20, 2021, 7:13 p.m.

| Updated: 7:28 p.m.

Researchers in Utah and Iceland have found some variants in the human genome that can determine who gets vertigo a discovery that could help better diagnose and treat the condition that causes dizziness and balance problems in millions of Americans.

The scientists some of them working for Utah-based Intermountain Healthcare as well as deCODE genetics, based in Reykjavik, Iceland have discovered six common genetic variants associated with vertigo.

The study used DNA data collected in the United States, Iceland, the United Kingdom and Finland comparing data from 48,000 people with vertigo with some 895,000 people who dont, said Astros Skuladottir, principal investigator on the study, speaking to reporters Wednesday from deCODEs offices in Iceland in a virtual news conference arranged by Intermountain.

Some of that data was from HerediGene: Population Study, a program launched in 2019 by Intermountain and deCODE, a subsidiary of the biopharmaceutical giant Amgen.

The findings were published Oct. 7 in the journal Communications Biology, published by Nature.

Vertigo affects nearly 40% of the U.S. population at some point in their life, according to Intermountain. Its a leading cause for falls and broken bones, which account for tens of thousands of trips to the emergency department each year.

Stephanie Nay, an Intermountain employee who has had bouts of vertigo over the last few years, described the sensation as if she was walking in a tunnel that was revolving around me.

Nay is one of more than 80,000 people who have donated a blood sample to the HerediGene study, which aims to collect more than a half-million DNA samples from people in Utah and Idaho. Intermountain touts the program as the largest and most comprehensive DNA-mapping effort from a single population in the U.S.

Finding the genetic cause for vertigo can lead to finding a treatment, said deCODEs founder and CEO, Dr. Kri Stefnsson. If you demonstrate a disease is caused by an upgrade of a [genetic] pathway, you can then develop a drug to downgrade that same pathway, Stefnsson said.

The vertigo study, Skuladottir said, really showcases the importance of this collaborative work to use the big data sets we have, and combine them to find sequence variants and the biological underpinnings of diseases.

The vertigo study found that none of the six genetic variants were associated with hearing loss, and only one was associated with age-related hearing impairment, Skuladottir said. This is significant because the vestibular system, in the inner ear, regulates ones sense of balance.

Finding a genetic link for vertigo also can help doctors attempting to diagnose strokes and heart attacks, said Dr. Kirk Knowlton, chair of the cardiovascular research department at Intermountains Heart Institute.

Many people in cardiovascular distress complain of dizziness, Knowlton said. But dizziness can come two ways the spinning sensation of vertigo, or the fainting caused by a lack of blood to the brain and patients may not be able to tell the difference when its happening, he said. So if a doctor knows whether a patient has the genetic variants that indicate vertigo, it may speed up diagnosis of a cardiovascular problem, he said.

Dr. Lincoln Nadauld, vice president and chief of precision health and academics at Intermountain, said this study is the first instance of the HerediGene programs data being used to find a genetic link to a particular disease.

I would not have guessed that vertigo is what we would find first, Nadauld said. Both Nadauld and Stefnsson said other studies using HerediGenes data are in the works that may reveal genetic links to other disorders.

Continue reading here:
Data from Utah patients helps find a genetic link to vertigo, researchers report - Salt Lake Tribune

Image credit: Hannes Richter viaUnsplash.

For years weve been told that human and chimp DNA is some 99 percent identical. The genetic similarity statistic is then used to make an argument for human-ape common ancestry, and human-ape common ancestry is then employed in service of the larger philosophical point that humans are just modified apes, and nothing special. It all amounts to an argument against human exceptionalism. This sort of thinking is embodied by Bill Nye (The Science Guy) in his 2014 bookUndeniable:

As our understanding of DNA has increased, we have come to understand that we share around 98.8 percent of our gene sequence with chimpanzees. This is striking evidence for chimps and chumps to have a common ancestor.

BioLogos-affiliated biologist Dennis Venemahas also arguedthat we are but a hand-breadth away from our evolutionary cousins at the DNA level. But is this really true? In response to the newly released episode ofScience Uprisingon human origins, we have recently received questions about the true degree of human-chimp similarity. With that in mind, lets review some past coverage on the issue.

In 2007, not long after the chimp genome was first sequenced, the journalSciencepublished an article, Relative Differences: The Myth of 1%, which called the idea that humans are only 1 percent genetically different from chimps a myth and a truism [that] should be retired. It observed that the genetic differences between humans and chimps amount to 35 million base-pair changes, 5 million indels [sequences of multiple nucleotide bases] in each species, and 689 extra genes in humans. The article further reported that if we consider the number of copies of genes in the human and chimp genomes, human and chimpanzee gene copy numbers differ by a whopping 6.4%.

The old statistic that we are about 99 percent or 98 percent similar to chimps pertains only to alignable protein-coding sequences. In fact the statistic first originated based upon similarity between humans and chimps in just one single gene! But many non-coding sequences are highly dissimilar, and there are sequences of the human and chimp genomes that are so different that they cant be aligned for comparison. For example, there are some parts of our genome, such as thehuman y chromosome, that are radically different from the chimp genome.

Geneticist Richard Buggs has tried to refine the methods for comparing human and chimp genomes. In a 2018 post, he observesthat The percentage of nucleotides in the human genome that had one-to-one exact matches in the chimpanzee genome was 84.38%. In 2020 he co-published anarticle in the journalFrontiers in Geneticsproviding a different method of estimating of human-chimp genetic differences, finding that human-chimp genetic similarity is about 96 percent. This papers estimate of ~4 percent genetic difference includes both coding and non-coding DNA, but it does not include centromeric DNA. If that DNA were included, the percent of genetic similarity between humans and chimps could drop to as low as ~93 percent, but probably not lower. Computational biologist Steve Schaffner has roughly estimated human-chimp genetic similarity to be ~95 percent. However, one criticism Ive heard of all current estimates is that they are based upon versions of the chimp genome that used the human genome as a scaffolding, potentially making certain sections of the chimp genome more humanlike than they ought to be. This could also artificially inflate the degree of human-chimp similarity.

What this means is that until more accurate and complete versions of the chimp genome are produced, any estimate of human-chimp genetic similarity will undoubtedly be refined in the future, and current numbers may very well be overestimates. Nonetheless, any of the above estimates of human-chimp genetic similarity 96 percent, 95 percent, 93 percent, 84 percent carries meaning in different contexts. But what exactly do they mean?

Whatever the exact percentage of human-chimp genetic similarity (however you want to measure it) turns out to be, lets grant that it will be fairly high, probably 84 percent or greater. Does this necessarily require the conclusion of common ancestry? Is the case for common ancestry, based upon the degree of similarity, an objective or rigorous argument thats capable of being falsified? For example, if a 1 percent genetic difference implies common ancestry, but then that statistic turns out to be wrong, then does a 4 percent genetic difference mean common ancestry is false? How about 7 percent or 10 percent genetic difference? 25 percent? At what point does the comparison cease to support common ancestry? Why does the percent genetic similarity even matter? Its not clear that there is an objective standard for falsification here, any identifiable reason why a particular percentage of genetic similarity should be taken to indicate common ancestry.

Indeed, Dennis Venema even seems to acknowledge this point, writing in 2018:

No one is more interested in the % genome identity thing than folks trying to cast doubt on common ancestry. Its just not a precise value that scientists are interested in, because it doesnt answer interesting scientific questions in the way other values do (emphasis added)

Thats quite a bold quote from Professor Venema when earlier he was seen emphasizing how humans are a mere genetic hand-breadth away from chimps, as part of a case for common ancestry. This is in keeping with numerous other evolution apologists over the years who have cited the 1% statistic in favor of human-chimp common ancestry. They are the ones who invented and promoted this fallacious argument, and we are simply responding to it. Yet somehow us Darwin-skeptics get blamed for spreading a fallacious argument.

Perhaps Dr. Venema has changed his mind about the import of the statisticwhich he is fully entitled to do. Whatever the case, we agree with his point here that the % genome identity provides no rigorous argument for common ancestry and does not answer very many interesting questions within this particular debate.

The case for human-chimp common ancestry is further significantly weakened once one realizes that there are other potential explanations for functional similarities: notably, design based upon a common blueprint.

Intelligent agents often re-use parts and components that perform common functions in different designs. Its a good engineering design principle to follow! Everyday examples of this include wheels used on both cars and airplanes, or touchscreen keyboards used on both phones and tablets.

It should be noted that common design, as an argument, is not intended to prove species were specially created or designed separately. Rather, its a rejoinder put forth to defeat the evolutionist assertion that genetic similarity necessarily indicates common ancestry. Genetic similarity doesnt necessarily indicate common ancestry because intelligent agents can and do independently use common parts in different designs to fulfill common functional goals. High genetic similarity could reflect design with a common blueprint rather than common ancestry.Biologist Ann Gauger, mathematician Ola Hssjer, and statistician Colin Reevesexplain this wellin Chapter 15 of the 2017 bookTheistic Evolution:

[T]here are some basic differences between the way evidence is approached by evolutionary biologists and design biologists. The chief assumption made by evolutionary biologists is that the genetic changes responsible for evolutionary change are random, and therefore, if a group of species share a trait in common that is not found in other related species, it is presumed that the common ancestor of the group developed that trait, and they all share it because of common descent. On the other hand, if genetic change is directed rather than random,the trait is most likely shared because the organisms use similar solutions to a physiological need.

Humans and chimps thus have similarities that reflect functional constraints due to design based upon a common blueprint. Gauger and her team indicate what this means for some of the basic molecular, cellular, metabolic, and physiological similarities between humans and chimps:

First, our basic building blocks, the proteins out of which our cells are made and the enzymes that carry out cellular metabolism, are very similar to those of chimpanzees, almost identical in many cases. One can think of our genes as being like the bricks and mortar, nails and wood, shingles and wires out of which houses are made. Two houses may look different but be composed of the same basic building blocks. By analogy, the building blocks out of which we are made, the genes, are very similar for chimps and humans, even if our bodily forms are different.

Second, the vast majority of our DNA does not code for protein but functions like an operating system, determining what files (genes) should be used when, and where. The routine processes of life are carried out by this operating system, and we share these basic routines with chimps. Thus in many respects our operating systems are the same as those of chimps.

Of course some will cite shared NON-functional (as opposed to functional) genetic similarities between humans and chimps as better evidence for common ancestry. I agree that non-functional shared DNA could be a potential argument for common ancestry, but Im skeptical that many of the DNA elements cited in these arguments are actually non-functional. Aswe saw recently, a new paper inGenome Biology and Evolutiondeclared, The days of junk DNA are over. Even pseudogenes, commonly cited as a form of genetic junk that supports common ancestry, have had their junk status severely questioned in recent years seehere,here,here,here, andherefor discussions.

Since many of the building blocks used by humans and chimps are similar, its no wonder that our protein-coding DNA is also so similar. Common design can explain these similarities. But its important to bear in mind that one can use identical building blocks bricks, mortar, wood, and nails to build very different houses. So its not just about having similar building blocks, but how you use them. This is where genetic similarities between humans and chimps probably arent so meaningful, when you consider how the building blocks being used can be very different.

Gauger and her colleagues thus explain that the percentage of nucleotide similarity does not tell the whole story about human-chimp genetic differences since many of the most crucial differences lie outside the protein-coding DNA:

[C]ounting raw difference is not the best way to calculate how different we are genetically speaking We now know that when, where, and how our DNA is used matters much more than an overall count of nucleotide differences. Human-specific differences in gene regulation, as we will see, are what make us unique.

They recount some of the crucial differences between humans and chimps:

And this leaves aside the vast cognitive and behavioral gulf between humans and chimpanzees. We are the only species that uses fire and technology. We are the only species that composes music, writes poetry, and practices religion. We are also the only species that seeks to investigate the natural world through science. We write papers about chimps; not the other way around. All of this is possible because we humans are the only species that uses complex language.

The human race has unique and unparalleled moral, intellectual, and creative abilities. Regardless of the level of similarity of human protein-coding DNA to chimps, clearly that similarity is only a small part of the story. If anything, it testifies that protein-coding DNA sequences are only one of multiple crucial interacting factors that determine an organisms biology and behavior.

Read more here:
Human-Chimp Similarity: What Does It Mean? - Discovery Institute

SAN DIEGO, Oct. 20, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), developer of the Saphyr system that uses optical genome mapping (OGM) for the detection and analysis of structural variants (SVs), today announced that Bionano scientists presented a poster at the American Society of Human Genetics (ASHG) conference that showcased new capabilities for OGM on the Saphyr system with detection of allelic imbalance and absence of heterozygosity (AOH), which further expands its utility in revealing more clinically relevant variants. These new OGM capabilities are expected to be released to Bionanos customers in upcoming versions of our Access and Solve software.

Regions with AOH, also referred to as loss of heterozygosity, regions/runs of homozygosity, or long continuous stretches of homozygosity are routinely used by researchers to gain genomic insights into the progression of various cancers and determine susceptibility for recessive disorders. For example, some regions with AOH may be indicative of uniparental isodisomy (UPD) or regions of the genome identical by descent (IBD).

In the poster presented at the ASHG conference titled, Optical genome mapping capability expanded to enable detection of absence of heterozygosity, the studys authors, Rao, et al., describe a method for AOH detection based on OGM results from the Saphyr system. Measurement and representation of allelic imbalance enables OGM to detect triploidy and other chromosomal imbalances and may shed light on mosaic SVs. This capability could further expand the utility of OGM in constitutional genetic disease research.

Erik Holmlin, PhD, CEO of Bionano Genomics, commented, This new capability for OGM helps strengthen our ability to support comprehensive genome analysis for cytogenomics and molecular pathology laboratories. We believe the detection of triploidy, regions associated with imprinted chromosomal disorders and IBD substantially improves the utility of OGM for clinical research applications. This increased utility could make the adoption of the Saphyr system more compelling for labs seeking to compliment SNP-based microarrays and next-generation sequencing.

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About Bionano Genomics

Bionano Genomics mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. Bionanos genome analysis solutions can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. Bionano pioneered OGM, which is a workflow for ultra-sensitive and ultra-specific detection of SVs. OGM is enabled on the Saphyr system, a single-molecule imaging instrument with reagents for isolation and sequence-specific labeling of ultra-high molecular weight DNA and software for SV detection and visualization. Bionano offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen business, Bionano also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. Through its BioDiscovery business, Bionano also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing (NGS) and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and AOH across the genome in one consolidated view. In addition, this software is expected to serve as the foundation of Bionanos ongoing efforts to develop data interpretation solutions tailored for cytogenomics and molecular pathology labs where the combination of NGS and OGM can potentially reveal more answers in genetic disease and cancer research than NGS alone. For more information, visit bionanogenomics.com, lineagen.com or biodiscovery.com.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: our beliefs regarding the improved utility of OGM for clinical research applications, including in constitutional genetic disease research, as a result of the new capabilities discussed in this press release; our expectations regarding increased adoption of Saphyr as a result of such improved utility; and our strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; the integration of BioDiscovery into our business; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Media Relations:Michael SullivanSeismic+1 (503) 799-7520michael@teamseismic.com

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Presentation at ASHG Showcases New Capabilities for Optical Genome Mapping with Detection of Allelic Imbalance and Absence of Heterozygosity Further...