Genetics

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

Lon Cardon, Ph.D., FMedSci

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

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

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

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

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

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

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

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

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

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

About The Jackson Laboratory

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

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Genetics

Researchers discover how a genetic mutation in mice and monkeys interferes with viruses – News-Medical.net

A nationwide team of researchers, led by scientists at University of Utah Health and The Rockefeller University, has determined how a genetic mutation found in mice and monkeys interferes with viruses such as HIV and Ebola. They say the finding could eventually lead to the development of medical interventions in humans

The gene, called retroCHMP3, encodes an altered protein that disrupts the ability of certain viruses to exit an infected cell and prevents it from going on to infect other cells.

Normally, some viruses encase themselves in cell membranes and then make an exit by budding off from the host cell. RetroCHMP3 delays that process long enough that the virus can no longer escape.

This was an unexpected discovery. We were surprised that slowing down our cell biology just a little bit throws virus replication off its game.

Nels Elde, Ph.D., senior author of the study and evolutionary geneticist, Department of Human Genetics at U of U Health

The study appears online Sept. 30 in advance of the Oct. 14 issue of Cell.

RetroCHMP3 originated as a duplicated copy of a gene called charged multivesicular body protein 3, or CHMP3. While some monkeys, mice, and other animals have retroCHMP3 or other variants, humans only have the original CHMP3.

In humans and other creatures, CHMP3 is well known for playing a key part of a role in cellular processes that are vital for maintaining cellular membrane integrity, intercellular signaling, and cell division.

HIV and certain other viruses hijack this pathway to bud off from the cellular membrane and infect other cells. Based on their research, Elde and his colleagues suspected that the duplications of CHMP3 they discovered in primates and mice blocked this from happening as protection against viruses like HIV and other viral diseases.

Building on this notion, Elde and other scientists began exploring whether variants of retroCHMP3 might work as an antiviral. In laboratory experiments conducted elsewhere, a shorter, altered version of human CHMP3 successfully prevented HIV from budding off cells. But there was a glitch: the modified protein also disrupted important cellular functions, causing the cells to die.

Unlike the other researchers, Elde and his colleagues at U of U Health had naturally occurring variants of CHMP3 from other animals in hand. So, working in collaboration with researchers Sanford Simon at The Rockefeller University, along with Phuong Tieu Schmitt and Anthony Schmitt at Pennsylvania State University, they tried a different approach.

Using genetic tools, they coaxed human cells to produce the version of retroCHMP3 found in squirrel monkeys. Then, they infected the cells with HIV and found that the virus had difficulty budding off from the cells, essentially stopping them in their tracks. And this occurred without disrupting metabolic signaling or related cellular functions that can cause cell death.

Were excited about the work because we showed some time ago that many different enveloped viruses use this pathway, called the ESCRT pathway, to escape cells, says Wes Sundquist, Ph.D., a co-corresponding author of the study and chair of the Department of Biochemistry at the University of Utah. We always thought that this might be a point at which cells could defend themselves against such viruses, but we didnt see how that could happen without interfering with other very important cellular functions.

From an evolutionary perspective, Elde believes this represents a new type of immunity that can arise quickly to protect against short-lived threats.

We thought the ESCRT pathway was an Achilles heel that viruses like HIV and Ebola could always exploit as they bud off and infect new cells, Elde says. RetroCHMP3 flipped the script, making the viruses vulnerable. Moving forward, we hope to learn from this lesson and use it to counter viral diseases.

More specifically, that lesson raises the possibility that an intervention that slows down the process may be inconsequential for the host, but provide us with a new anti-retroviral, says Sanford Simon, Ph.D, a study co-author and a professor of Cellular Biophysics at The Rockefeller University.

Source:

Journal reference:

Rheinemann, L., et al. (2021) RetroCHMP3 Blocks Budding of Enveloped Viruses Without Blocking Cytokinesis. Cell. doi.org/10.1016/j.cell.2021.09.008.

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Genetics

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

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

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

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

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

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

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

Genetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The moratorium isalso self-regulated by the insurance industry.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

AGenDAis alsoconcerned at the lack of Government intervention.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetics

Obesity and genetics: Researchers have found 14 genes that cause weight gain and three that help prevent it, opening door to new treatments – Genetic…

The GLP Needs Your Help

It is easier than ever for advocacy groups to spread disinformation on pressing science issues, such as the ongoing coronavirus pandemic. No, vaccines are not harmful. Yes, the use of biotechnology, GMOs or gene editing to develop antigens for treatments including vaccines are part of the solution. To inform the public about whats really going on, we present the facts and challenge those who don't. We cant do this work without your help. Please support us a donation of as little as $10 a month helps support our vital myth-busting efforts.

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Obesity and genetics: Researchers have found 14 genes that cause weight gain and three that help prevent it, opening door to new treatments - Genetic...

Genetics

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

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

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

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

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

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

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

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

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

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

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

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

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

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

***

Isaac Wurmann is a writer based in Berlin.

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

We hope you found this Broadview article engaging.

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

Immunology

COVID-triggered autoimmunity may be mostly temporary – Emory Health Now

In people with severe COVID-19, the immune system goes temporarily berserk and generates a wide variety of autoantibodies: proteins that are tools for defense, but turned against the bodys own tissues.

During acute infection, COVID-19 patients immune systems resemble those of people with diseases such as lupus or rheumatoid arthritis. However, after the storm passes, the autoantibodies decay and are mostly removed from the body over time, according to a study of a small number of patients who were hospitalized and then recovered.

In apreprint posted on medRxiv, Emory immunologists provide a view of the spectrum of what COVID-generated autoantibodies react against, both during acute infection and later. Note: the results have not yet been published in a peer-reviewed journal.

The findings on COVID-19-triggered autoimmunity may have implications for both the treatment of acute infection and for long-haulers, in whom autoantibodies are suspected of contributing to persistent symptoms such as fatigue, skin rashes and joint pain.

During acute infection, testing for autoantibodies may enable identification of some patients who need early intervention to head off problems later. In addition, attenuation of autoantibody activity by giving intravenous immunoglobulin (IVIG) an approach that has been tested on a small scale may help resolve persistent symptoms, the Emory investigators suggest.

Researchers led by Ignacio Sanz, MD and Frances Eun-Hyung Lee, MD, isolated thousands of antibody-secreting cells from 7 COVID-19 patients who were in ICUs at Emory hospitals. They also looked for markers of autoimmunity in a larger group of 52 COVID-19 ICU patients.

Sanz is head of the division of rheumatology in the Department of Medicine, director of the Lowance Center for Human Immunology, and a Georgia Research Alliance Eminent Scholar. Lee is associate professor of medicine and director of Emorys Asthma/Allergy Immunology program.

The co-first authors are Matthew Woodruff, PhD, an instructor in Sanzs lab, and Richard Ramonell, MD, a fellow in pulmonary and critical care medicine at Emory University Hospital. In some of the experiments, Emory researchers collaborated with Exagen, using technology developed by the company to probe clinical autoimmune profiles.

We were trying to address the question: what is the origin of the autoantibodies? Sanz says.

That is, are they generated during the course of infection? Or were immune cells capable of making the observed autoantibodies already existing in the body, and let loose by the infection?

These possibilities are not mutually exclusive, but it appears that new generation of autoreactive clones from nave cells is a dominant mechanism in acute severe infection, he says. What we see is a broad breakdown of tolerance, at least temporarily.

The researchers characterized the antibodies the cells produced and their DNA, looking for signs of the editing processes the immune system usually applies to ensure antibodies dont react against the body itself.

The editing processes appeared to have weakened during infection. Germinal centers, the anatomical structures within lymph nodes where antibody-secreting cells mature, can collapse during intense inflammation, Sanz says. As a result, antibody-secreting cells develop in a disorganized, uncontrolled way outside highly regulated germinal centers.

In the hospitalized patients, the majority of their antibody-secreting cells produced antibodies directed against parts of the coronavirus, but some of them were also reactive against different targets in the body. The broad pattern resembled that seen in lupus, but was different in that some types of autoantibodies, such as those against DNA, were not observed. One patients immune cells were producing antibodies against glomerular basement membrane, which may contribute to lung and kidney damage.

Six months after acute infection, when some of the patients had survived and recovered, most of the indiscriminately generated antibody-secreting cells had disappeared from their blood. However, the antibodies themselves what the cells produce remain in the blood and decay gradually over time.Approaches such as IVIG could encourage recycling of lingering autoantibodies, the authors write.

Sanz says that the question of whether autoantibodies or perhaps, lingering autoreactive cells contribute to persistent symptoms needs to be tested in a larger group of COVID-19 patients. His and Lees laboratories continue to examine people with severe COVID-19 and those who recovered, as well as outpatients, including those with long haul symptoms. Their expanded study now includes an additional 150 patients, with the aim of correlating clinical features with the presence of autoantibodies.

This is something we are going to have to follow, he says. We also need to compare this to other viral infections that have been associated with autoimmunity.

The research was supported by the National Cancer Institute (SeroNet, U54CA260563), the National Institute of Allergy and Infectious Diseases (U19AI110483 Emory Autoimmunity Center of Excellence, P01AI125180, R37AI049660, R01AI121252, U01AI141993), and the National Heart Lung and Blood Institute (T32HL116271).

Additional links:

2020 Nature Immunology paper on B cell responses in severe COVID-19

Matthew Woodruffs explainer in The Conversation

Emory Health Digest article on long COVID

Emory expanding post-COVID care

Panel discussion (scroll down) on long COVID

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Embryology

Studies offer insight into how the human body develops and acquires mutations throughout life – News-Medical.net

New insights into how the human body develops from one cell into trillions, and the genetic mutations that cells pick up along the way, have been generated by two studies from scientists at the Wellcome Sanger Institute, the University of Cambridge and their collaborators.

The studies, published today (25 August 2021) in Nature, are the first to analyze somatic mutation in normal tissues across multiple organs within and between individuals. Researchers were able to retrace human development, including in a 78-year old individual, all the way back to the first cell division, as well as confirm that the mutation rate in the germline cells is much lower than in the other tissues of the body.

This fundamental knowledge will help to establish baselines for human development and how we acquire mutations throughout life, in both the cells of our body and the genetic code that is passed on to the next generation. Knowing what normal development and ageing looks like will in turn help to better understand the onset of disease.

In recent years, technological and experimental advances have allowed researchers to study somatic mutation in healthy tissue. This has been achieved by taking micro-biopsies of just a few hundred cells, which are then genome sequenced to an incredibly high degree of accuracy.

From the very first cell division, an individuals cells experience damage to their genome. Most of this damage is repaired by the cell, but some changes to the letters of DNA, known as somatic mutations, persist. Through cell division, these mutations are then passed on to the next generation of cells by progenitor cells. When two cells share the same mutations, this implies a shared ancestry and these markers can be used to trace development back through time.

The genetic code that is passed on via sperm and egg cells during reproduction, known as the germline, has long been thought to be protected from the mutational processes that occur in the rest of the body as we age. This helps to ensure that individuals start life with a genome that is intact, or free from the mutations acquired by the parents during their lives.

For these studies, samples of normal tissue from three adult individuals were supplied by researchers at the MRC Cancer Unit, University of Cambridge and a commercial provider. Researchers at the Wellcome Sanger Institute used laser microdissection to cut out tiny biopsies of just a few hundred cells, covering a wide range of tissues from each donor. These biopsies were then whole genome sequenced so that somatic mutations within and between individuals could be compared.

In one study, researchers created a family tree of cell lineages for each individual stretching all the way back to the fertilized egg of each person. By analyzing genomes from the different tissues they could use mutations shared by cells to trace how the tissues of the body had formed from a single cell.

This analysis revealed significant variation between individuals in which cells went on to form particular tissues. For example, the two progenitor cells created by the division of the fertilized egg cell contributed relatively equally to the body of one individual, but in another donor 93 per cent of their cells were descended from just one of the original progenitors.

Dr Tim Coorens, a first author of the studies from the Wellcome Sanger Institute, said: By examining the history of each cell, weve been able to retrace the development of a 78-year-old person all the way back to the first cell division. It was surprising to find how much variation there was in human development between individuals, and especially between tissues in the same person. Its not as straightforward as the same set of cells contributing to the heart or kidneys, say, in every person. What our study makes clear is that human embryology is not set in stone.

In the other study, scientists analyzed the genomic data to compare the mutational landscape in 29 different tissues. Researchers at Newcastle University supplied samples from a further 11 men, from which a further 162 micro-biopsies were taken to explore germline mutation in greater detail.

Such analysis is able to detect patterns of mutation, known as mutational signatures, that can be attributed to particular biological processes or substances the body is exposed to that alter the genome, such as alcohol or tobacco.

The team found ubiquitous mutational signatures across all of the tissues studied, including two that result from the normal functioning of human cells, called SBS1 and SBS5. Other signatures were specific to certain tissues, such as SBS18, which may be indicative of oxidative damage. There was substantial variability in the mutational landscape between tissues in the same individual.

Notably, the mutation rate for spermatogonia immature sperm cells derived from stem cells in the testes was found to be much lower than for other cells in the body.

Dr Raheleh Rahbari, a senior author of the studies from the Wellcome Sanger Institute, said: This study advances our understanding of the diversity of mutation rates and processes within the human body. It has long been suspected that the germline acquires fewer mutations than other cells, in order to preserve the genome that will be passed on to the next generation. Here we reveal for the first time that low germline mutation rate is not the result of selection of sperm with fewer mutations during conception or development, but is a global feature of the male germline compared to other cells. But what is not clear is how spermatogonia, which must divide to create vast numbers of sperm cells, maintain such a low mutation rate.

The studies will help to establish baselines of normal development and how we acquire mutations throughout life.

Exploring the human body via the mutations cells acquire as we age is as close as we can get to studying human biology in vivo. Our life history can be found in the history of our cells, but these studies show that this history is more complex than we might have assumed.

Dr Luiza Moore, First Study Author, Wellcome Sanger Institute

Professor Sir Mike Stratton, a senior author of the studies and Director of the Wellcome Sanger Institute, said: These studies explore the landscape of mutations that normally occur during the course of life in every cell of the human body, providing new insights into human development and important differences between cell types.

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Studies offer insight into how the human body develops and acquires mutations throughout life - News-Medical.net

Biochemistry

Wang Receives ASBMB Young Investigator Award | Newsroom – UNC Health and UNC School of Medicine

Greg Wang, PhD, associate professor of biochemistry and biophysics, has received the 2022 ASBMB Young Investigator Award.

Greg G. Wang, PhD, associate professor at the University of North Carolina School of Medicine and member of the UNC Lineberger Comprehensive Cancer Center, has received the 2022 ASBMB Young Investigator Award, which recognizes outstanding research contributions to biochemistry and molecular biology and contributions to the community of scientists. Wangs lab studies how chromatin modification and epigenetic modifications contribute to gene regulation and cancer development.

The ASBMB Young Investigator Award (formerly the ASBMB/ScheringPlough Research Institute Award) recognizes outstanding research contributions to biochemistry and molecular biology. The recipient must have no more than 15 years postdoctoral experience. Nominations must be originated by society members, but nominees need not be ASBMB members.

The award consists of a plaque, $5,000, and transportation and expenses to present a lecture at the ASBMB annual meeting.

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Wang Receives ASBMB Young Investigator Award | Newsroom - UNC Health and UNC School of Medicine