Category Archives: Genetics

Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research – PR…

Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research  PR Newswire

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Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research - PR...

Estonians gave their DNA to science now they’re learning their genetic secrets – Nature.com

One-fifth of Estonians now have access to information about genetic variants that could increase their chances of certain illnesses.Credit: Ints Vikmanis/Shutterstock

While much of Europe is obsessing over this years European Football Championships, many Estonians whose team didnt qualify are absorbed in their own genomes.

This month, the 210,000 Estonians who have contributed samples to the countrys biobank around 20% of the adult population were given the opportunity to learn about some of their genetic traits, including disease risk, ancestry markers and how they handle caffeine.

Worlds biggest set of human genome sequences opens to scientists

So many people flocked to the online portal that parts of it crashed soon after it launched. Genetic literacy in the Estonian population is maybe higher than elsewhere, says Lili Milani, head of the Estonian Biobank and a pharmacogenomicist at the University of Tartu. The interest is really high.

The project is one of the worlds biggest efforts to return genetic results to research participants most biobanks do not provide such information. One reason for sharing the results, say scientists, is to recognize the value that participants contribute. People have donated their data for this research, and they want something back, says Andrea Ganna, a statistical geneticist at the University of Helsinki. Its a no-brainer. We need to do it and participants want it.

The Estonian Biobank was created by a 2000 law that mandated that the database would allow participants to access their genetic data. But informing so many people about their genomes is easier said than done.

At first, specialists individually counselled participants with a high genetic risk of certain conditions, including breast cancer and cardiovascular disease, or with rare gene variants that affect how they metabolize drugs. But these recall studies reached only 5,000 participants, says Milani. We cannot do face-to-face consultations for 200,000 people.

The biobanks online portal provides more limited insights, but the emphasis is still on data that participants can use to improve their health. As well as information about cardiovascular disease and type 2 diabetes based on factors including hundreds of thousands of DNA variants, Estonians receive advice about how losing weight and making other lifestyle changes can cut disease risk. We know genetic risk alone doesnt tell you much. You need to put this in the context of your lifestyle, says Milani.

Australian biobank repatriates hundreds of legacy Indigenous blood samples

The portal also informs participants about genetic influences on how their body handles medicines, such as certain blood thinners, and other substances. Milanis own results show she carries a gene variant that slows the breakdown of caffeine, amplifying its effects. I had one coffee yesterday and couldnt sleep. Its been a bit hectic with the launch of the portal, she says.

More than 75,000 biobank participants have already visited the website, showing that interest is high, says Milani. (A measure of Neanderthal ancestry that the biobank provides has been trending on Estonian social media.) To measure the effects of receiving health-related information, Milani and her colleagues plan to compare the future health of participants who log into the portal with that of those who dont.

The hope, anticipation and expectation is that this should improve peoples health care, says Dan Roden, a cardiologist and clinical pharmacologist working on personalized medicine at Vanderbilt University in Nashville, Tennessee.

The Estonian Biobank data release is part of a growing trend among population health studies. The US-government-funded All of Us study which aims to collect genome and health data from more than one million people from diverse backgrounds has communicated genetic results to more than 100,000 participants, with the goal to give all participants the opportunity to receive this information eventually.

The study examines a set of 59 genes for genetic variations linked to diseases that can be treated or prevented. The 3% of participants who carry any of these mutations receive genetic counselling to learn about the results, says Heidi Rehm, a clinical genomicist at Massachusetts General Hospital in Boston who is part of All of Us.

An inside look at the first pig biobank

If weve got their genomes and theres really critical information in there, particularly that our researchers may study, it seems unfair not to also let them have it, she adds. Participants who dont have any of these mutations can see the results online and can still request a meeting with a genetic counsellor.

To be able to show results to participants, All of Us had to jump through several hoops including getting a stamp of approval from the US Food and Drug Administration, which regulates genetic testing. The Estonian programme, Milani says, went through two years of back-and-forth communication with an ethics review board.

Another challenge is funding, says Ganna. Tasks such as contacting participants by post could cost hundreds of thousands of euros.

Returning genetic results is an ongoing process, says Roden. As scientists understanding of the links between genetics and health change, so should the information participants receive. Youre never at the end of this voyage, Roden says. I admire the Estonians, and I think it is a wonderful experiment, a wonderful way of moving genome science forward.

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Estonians gave their DNA to science now they're learning their genetic secrets - Nature.com

Genetic clues to depression revealed in large study – PsyPost

The core experiences of depression changes in energy, activity, thinking and mood have been described for more than 10,000 years. The word depression has been used for about 350 years.

Given this long history, it may surprise you that experts dont agree about what depression is, how to define it or what causes it.

But many experts do agree that depression is not one thing. Its a large family of illnesses with different causes and mechanisms. This makes choosing the best treatment for each person challenging.

One strategy is to search for sub-types of depression and see whether they might do better with different kinds of treatments. One example is contrasting reactive depression with endogenous depression.

Reactive depression (also thought of as social or psychological depression) is presented as being triggered by exposure to stressful life events. These might be being assaulted or losing a loved one an understandable reaction to an outside trigger.

Endogenous depression (also thought of as biological or genetic depression) is proposed to be caused by something inside, such as genes or brain chemistry.

Many people working clinically in mental health accept this sub-typing. You might have read about this online.

But we think this approach is way too simple.

While stressful life events and genes may, individually, contribute to causing depression, they also interact to increase the risk of someone developing depression. And evidence shows that there is a genetic component to being exposed to stressors. Some genes affect things such as personality. Some affect how we interact with our environments.

Our team set out to look at the role of genes and stressors to see if classifying depression as reactive or endogenous was valid.

In the Australian Genetics of Depression Study, people with depression answered surveys about exposure to stressful life events. We analysed DNA from their saliva samples to calculate their genetic risk for mental disorders.

Our question was simple. Does genetic risk for depression, bipolar disorder, schizophrenia, ADHD, anxiety and neuroticism (a personality trait) influence peoples reported exposure to stressful life events?

You may be wondering why we bothered calculating the genetic risk for mental disorders in people who already have depression. Every person has genetic variants linked to mental disorders. Some people have more, some less. Even people who already have depression might have a low genetic risk for it. These people may have developed their particular depression from some other constellation of causes.

We looked at the genetic risk of conditions other than depression for a couple of reasons. First, genetic variants linked to depression overlap with those linked to other mental disorders. Second, two people with depression may have completely different genetic variants. So we wanted to cast a wide net to look at a wider spectrum of genetic variants linked to mental disorders.

If reactive and endogenous depression sub-types are valid, wed expect people with a lower genetic component to their depression (the reactive group) would report more stressful life events. And wed expect those with a higher genetic component (the endogenous group) would report fewer stressful life events.

But after studying more than 14,000 people with depression we found the opposite.

We found people at higher genetic risk for depression, anxiety, ADHD or schizophrenia say theyve been exposed to more stressors.

Assault with a weapon, sexual assault, accidents, legal and financial troubles, and childhood abuse and neglect, were all more common in people with a higher genetic risk of depression, anxiety, ADHD or schizophrenia.

These associations were not strongly influenced by peoples age, sex or relationships with family. We didnt look at other factors that may influence these associations, such as socioeconomic status. We also relied on peoples memory of past events, which may not be accurate.

Genetic risk for mental disorders changes peoples sensitivity to the environment.

Imagine two people, one with a high genetic risk for depression, one with a low risk. They both lose their jobs. The genetically vulnerable person experiences the job loss as a threat to their self-worth and social status. There is a sense of shame and despair. They cant bring themselves to look for another job for fear of losing it too. For the other, the job loss feels less about them and more about the company. These two people internalise the event differently and remember it differently.

Genetic risk for mental disorders also might make it more likely people find themselves in environments where bad things happen. For example, a higher genetic risk for depression might affect self-worth, making people more likely to get into dysfunctional relationships which then go badly.

First, it confirms genes and environments are not independent. Genes influence the environments we end up in, and what then happens. Genes also influence how we react to those events.

Second, our study doesnt support a distinction between reactive and endogenous depression. Genes and environments have a complex interplay. Most cases of depression are a mix of genetics, biology and stressors.

Third, people with depression who appear to have a stronger genetic component to their depression report their lives are punctuated by more serious stressors.

So clinically, people with higher genetic vulnerability might benefit from learning specific techniques to manage their stress. This might help some people reduce their chance of developing depression in the first place. It might also help some people with depression reduce their ongoing exposure to stressors.

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Genetic clues to depression revealed in large study - PsyPost

Move Over, Genghis Khan. Many Other Men Left Huge Genetic Legacies – Smithsonian Magazine

Earthwork Portrait of Genghis Khan Christophe Boisvieux/Corbis

Since a 2003 study found evidence that Genghis Khans DNA was present in about 16 million men alive at the time, the Mongolian rulers genetic prowess has stood as an unparalleled accomplishment. But he isnt the only man whose reproductive activities still show a significant genetic impact centuries later. A 2015 study published in the European Journal of Human Genetics found that a handful of other men had prolific lineages, too.

To identify those lineages, the geneticists analyzed the Y chromosomes of more than 5,000 men from 127 populations spanning Asia, wrote Nature News Ewen Callaway in 2015. The Y chromosome is a part of the human genome handed down only from father to son. They found 11 Y-chromosome sequences that were each shared by more than 20 of the analyzed subjects. Chalk down one of those as Genghis Khans, and that leaves ten other men who initiated long-lived and widely spread family trees.

When he ruled during the 13th century, Genghis Khan presided over land that spanned from the Pacific coast of China to the Caspian Sea. Historians dont know exactly how many children Genghis Khan sired, but many agree his lineage is broad. In 1260, Persian historian Ata-Malik Juvaini wrote: Of the issue of the race and lineage of Chingiz [Genghis] Khan, there are now living in the comfort of wealth and affluence more than 20,000.

Mongol rulers such as Genghis Khan could have spread their genes widely, because of rapes during conquests and because the khans had access to many women in the areas they ruled, Oxford University geneticist Chris Tyler-Smith told Nicholas Wade of the New York Times in 2003.

Genghis Khans sons may have followed in their fathers footsteps and had large harems. Tushi, the emperors oldest son, had 40 sons himself, per the New York Times.

So, who were the other super-fertile fathers? One genetic sequence is attributed to Giocangga, the grandfather of the founder of the Qing dynasty. His Y chromosome was linked in a 2005 study to 1.5 million men in modern northern China. This large number likely resulted from his descendants taking many wives and concubines.

The other nine men are currently mysteries. Yet, by assuming they lived in the area where their genomes were most commonly found and by studying mutations in the genetic sequences, scientists suggest they originated throughout Asia between 2100 B.C.E. and 700 C.E., per Nature News.

According to Nature News, the founders who lived at the earlier end of this range, between 2100 B.C.E and 300 B.C.E., were part of both agricultural and nomadic cultures. They lived during the emergence of hierarchical, authoritarian societies in Asia. And the three lineages connected to more recent times, including those linked to Genghis Khan and Giocangga, were associated with nomadic peoples in Mongolia and northeast China.

Large genetic legacies are not confined to that part of the globe. According to a 2006 study in the American Journal of Human Genetics, 1 in 12 Irishmen worldwide can trace their heritage back to a single individual. That man may be a fifth-century Irish warlord dubbed Niall of the Nine Hostages, who could have as many as three million direct male descendants in modern times.

Genetic studies published in the last few years have continued to reveal more information about the heritage of peoples around the world. From uncovering the genetic history of the Viking age to confirming the origins of the Swahili people and pinpointing Neanderthal genes in modern populations, techniques analyzing ancient DNA have opened another window to understanding how genes flowed in the past.

As far as the nine unknown founders with impressive genetic lineages, more research is needed to discern their identities. But one thing is certain: Genghis Khan has never been the only big kid on the genetic block.

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Move Over, Genghis Khan. Many Other Men Left Huge Genetic Legacies - Smithsonian Magazine

3X4 Genetics Selected as Partner for Preeminent Cancer Research and Treatment Nonprofit, The Metabolic Terrain … – BioSpace

The genetics-based health tech company will serve as the organization's screening test for patients, ensuring the most targeted interventions possible for cancer treatment, recovery, and prevention

BELLEVUE, Wash., June 25, 2024 /PRNewswire/ -- 3X4 Genetics, leader in the field of genetics-based health, announced today a partnership with The Metabolic Terrain Institute of Health (MTIH) to serve as the innovative nonprofit's genetics provider. Founded in 2020, MTIH has been commanding the shift in cancer research and treatment from traditional approaches to exploring metabolic pathways, thereby considering cancer a metabolic disease.

At the forefront of the emerging fields of nutrigenetics and personalized health, 3X4 Genetics' translation of genetic results is perfectly aligned with MTIH protocols. Instead of looking at individual genes in isolation, the 3X4 test uses a systems biology framework to analyze how genes work together in the body to impact overall health. By integrating gene testing into the metabolic approach to cancer, MTIH creates an even more personalized care experience that tailors treatments to each patient's unique genetic makeup and significantly enhances outcomes.

"So many of us have been affected by cancer in some way, and we all seek answers to the same questions: why did it happen, what could we have done to prevent it, and how could we have managed the cancer better," says Dr. Yael Joffe, RD (SA), PhD, FACN, Founder and Chief Science Officer of 3X4 Genetics. "MTIH has found these answers, and it is a great honor to work with an organization that addresses the root causes of cancer and focuses on reversing the disease process. We look forward to growing together, learning more about cancer, the role genes play, and how together we can impact many lives."

In addition to genetic testing and reporting, 3X4 Genetics will also provide targeted education and mentorship for MTIH's vast network of clinicians to deepen their understanding of how genetics offers unique insights into their patients' journey.

"After working with various genetics companies over the years, we at the Metabolic Terrain Institute of Health are thrilled to be working with 3X4 Genetics to take our clinical care to the next level. This collaboration perfectly aligns with our commitment to precision health through our motto: "Test, Assess, Address, Don't Guess." said Dr. Nasha Winters, ND, FABNO, Executive Director and Co-Founder of MTIH. "3X4 is revolutionizing the field with their cutting-edge testing, providing crucial information that is essential for our Metabolic Terrain-trained practitioners and advocates."

In addition to supplying MTIH and other healthcare organizations with tests, 3X4 Genetics provides a community of over 4,200 practitioners in all 50 states with the training and resources to grow their practice and transform more lives. To learn more about 3X4 Genetics, visit http://www.3X4genetics.com.

About 3X4 Genetics 3X4 Genetics is a venture backed genetics-based foundational health company that combines advanced genetic testing, nutrigenomic education and a global network of accredited practitioners to help people listen to their bodies and make sound, daily choices to live longer, healthier and better lives. 3X4 Genetics is headquartered in Bellevue, WA. For more information, please visit http://www.3X4genetics.com.

About the Metabolic Terrain Institute of Health The Metabolic Terrain Institute of Health is a 501(c)(3) organization based in Tucson, Arizona, and the organization's mission is to restore health for people with cancer and other metabolic diseases through research, education, advocacy, collaboration, and healing. For more information, visit mtih.org.

Media Contact: Power Digital Marketing 3x4genetics@powerdigital.com

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3X4 Genetics Selected as Partner for Preeminent Cancer Research and Treatment Nonprofit, The Metabolic Terrain ... - BioSpace

NIFA Invests $6M in Animal Breeding, Genetics and Genomics | NIFA – National Institute of Food and Agriculture

The Animal Breeding, Genetics, and Genomics program area priority (A1201) within NIFAs Agriculture and Food Research Initiative (AFRI) supports research on the development of novel quantitative genetic methods; national and regional breeding strategies; new phenotypes for improving selection criteria and/or high-throughput methods for on-farm recording of traits; and alternatives to control inbreeding. This NIFA program supports research that can be basic, applied, or both.

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NIFA Invests $6M in Animal Breeding, Genetics and Genomics | NIFA - National Institute of Food and Agriculture

Arbel Harpak: Pursuing the Next Frontier in Genetics | Dell Medical School – Dell Medical School

Sex is a key factor in evolution, health and disease. But we know little about how sex differences come to be even as they are stark, such as in the higher incidence of autism spectrum disorder for men or autoimmune disease for women. Supported by the Pew scholarship, Harpaks lab will pursue new directions for understanding how biological sex matters in genetics and evolution.

My group studies how genetic variation evolves: how it arises through molecular processes and how it is later shaped by natural selection. We are also interested in the upshot of this process how genetic variation maps into trait variation, which has an impact on things like disease susceptibility, behavior and fitness.

Answers to these questions have been proposed for centuries. However, the incredible scope of data gathered over the last two decades revolutionized what can be learned from genetic variation and has inspired new questions. Work in the lab involves mathematical modeling and genomic data science.

Thanks to the Pew scholarship, the group will develop new models for the drivers of sex differences and scour large databases to test predictions of these models. This work could improve our ability to predict sex-specific genetic risk of disease and advance our understanding of the role of sex in evolution.

My masters was probably the first time I started to seriously think about a career in research, mostly thanks to Guy Sella, who made the introduction to population genetics extremely exciting. My Ph.D. advisor at Stanford, Jonathan Pritchard, shaped me as a scientist and has been a role model for me.

Following my Ph.D., I spent three enriching years as a Simons Foundation fellow and a postdoc at Columbia University working with Molly Przeworsky. I cant quite put into words how invaluable her mentorship has been (and still is) for me. She set the bar incredibly high in terms of rigor, braveness, honesty and collegiality. She also gave invaluable support during years that have been personally difficult.

Arbel Harpak, Ph.D.

As I began planning my own lab, reflections about my mentorship experiences translated into my own goals as a group leader. I realized that the greatest impact I could have on the field would be through facilitating, supporting, advising and mentoring future generations.

Honors like the Pew scholarship are ultimately the result of the enthusiasm and dedication of the students and postdocs Ive been lucky to have work in the lab. My second favorite part of the job is when trainees persevere through challenges and come up at the other end with innovative solutions and answers; my absolute favorite part is when they come up with good questions.

I grew up in Israel. My family moved around quite a bit but always kept a stones throw away from the beaches of the Mediterranean Sea, where I spent a lot of my time. I was very much into math and into wildlife from a young age but hadnt really thought of being an academic; no one in my family was, and playing outdoors (Did I mention the beach yet?) filled up most of my schedule nicely.

After saving up money to go to school, I started my bachelor studies in mathematics and philosophy at the Hebrew University of Jerusalem and later on added physics to the mix. I deeply enjoyed my math studies. I never knew and probably never would have known without my math education how it feels to deeply and fundamentally understand ones object of study. This feeling was, and continues to be, a source of true joy for me.

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Arbel Harpak: Pursuing the Next Frontier in Genetics | Dell Medical School - Dell Medical School