Category Archives: Genetics

Genetics

A Deep Dive Into the Genetics of Alcohol Consumption – University of California San Diego

But the paper notes individuals with the alcohol-protective alleles also had worse health outcomes in certain areas: more lifetime tobacco use, more emotional eating, more Graves disease and hyperthyroidism. Individuals with the alcohol-protective alleles also reported totally unexpected differences, such as more malaria, more myopia and several cancers, particularly more skin cancer and lung cancer, and more migraine with aura.

Sanchez-Roige acknowledged that there is a chicken-and-egg aspect to their findings. For example: Cardiovascular disease is just one of a number of maladies known to be associated with alcohol consumption. So is alcohol consumption leading to these conditions? she asks. Palmer finishes the thought: Or do these genetic differences influence traits like malaria and skin cancer in a manner that is independent of alcohol consumption?

Sanchez-Roige said that such broad, hypothesis-free studies are only possible if researchers have access to very large sets of data. Many datasets, including the one used in the study, rely heavily on individuals with European ancestry.

It is important to include individuals from different ancestral backgrounds in genetic studies because it provides a more complete understanding of the genetic basis of alcohol behaviors and other conditions, all of which contributes to a more inclusive and accurate understanding of human health, she said. The study of only one group of genetically similar individuals (for example, individuals of shared European ancestry) could worsen health disparities by aiding discoveries that will disproportionately benefit only that population.

She said their study opens numerous doors for future research, chasing down possible connections between the alcohol-protective alleles and conditions that have no apparent connection with alcohol consumption.

Understanding the underlying mechanisms of these effects could have implications for treatments and preventative medicine, Sanchez-Roige noted.

Co-authors on the paper from the University of California San Diego School of Medicine Department of Psychiatry are Mariela V. Jennings, Natasia S. Courchesne-Krak, Renata B. Cupertino and Sevim B. Bianchi. Sandra Sanchez-Roige is also associated with the Department of Medicine, Division of Genetic Medicine, Vanderbilt University.

Other co-authors are: Jos Jaime Martnez-Magaa, Department of Psychiatry, Division of Human Genetics, Yale University School of Medicine; Laura Vilar-Rib, Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall dHebron Research Institute, Universitat Autnoma de Barcelona, Barcelona, Spain; Alexander S. Hatoum, Department of Psychology & Brain Sciences, Washington University in St. Louis; Elizabeth G. Atkinson, Department of Molecular and Human Genetics, Baylor College of Medicine; Paola Giusti-Rodriguez, Department of Psychiatry, University of Florida College of Medicine; Janitza L. Montalvo-Ortiz, Department of Psychiatry, Division of Human Genetics, Yale University School of Medicine, National Center of Posttraumatic Stress Disorder, VA CT Healthcare Center; Joel Gelernter, VA CT Healthcare Center, Department of Psychiatry, West Haven CT; and Departments of Psychiatry, Genetics & Neuroscience, Yale Univ. School of Medicine; Mara Soler Artigas, Psychiatric Genetics Unit, Group of Psychiatry, Mental Health and Addiction, Vall dHebron Research Institute, Universitat Autnoma de Barcelona, Barcelona, Spain; Department of Mental Health, Hospital Universitari Vall dHebron, Barcelona; Biomedical Network Research Centre on Mental Health (CIBERSAM), Madrid; and Department of Genetics, Microbiology, and Statistics, Faculty of Biology, Universitat de Barcelona; Howard J. Edenberg, Department of Biochemistry and Molecular Biology, Indiana University School of Medicine; and the 23andMe Inc. Research Team, including Sarah L. Elson and Pierre Fontanillas.

The study was funded, in part, by Tobacco-Related Disease Research Program grants T32IR5226 and 28IR-0070, National Institute of Health (NIH) National Institute of Drug Abuse (NIDA) DP1DA054394, and NIH National Institute of Mental Health (NIMH) R25MH081482.

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A Deep Dive Into the Genetics of Alcohol Consumption - University of California San Diego

Genetics

Untold story of bird evolution revealed through genetics – Earth.com

The cataclysmic impact of a giant meteor around 65 million years ago brought an end to the reign of the majority of dinosaur species, leaving behind a void in which birds, the direct descendants of dinosaurs, emerged as thriving survivors.

This event marks a critical junction in the evolution of birds, which have since exploded into a diverse group of approximately 10,000 species today.

Scientists have long struggled to piece together a comprehensive family tree of birds to understand their evolutionary journey across millennia.

The advent of affordable DNA sequencing technologies promised a resolution to this complex puzzle, simplifying the classification process that has bewildered researchers for centuries, much like it has facilitated the understanding of lineage and relationships across a multitude of other species.

However, the avian world was not without its enigmas. Recent scientific endeavors have found that an event concurrent with the dinosaurs demise 65 million years ago had obscured the true lineage of birds.

This discovery emerged from a pair of groundbreaking research papers released on April 1, which identified a segment of one chromosome that remained in stasis, resisting the natural blending with adjacent DNA regions over the course of millions of years.

This peculiar fragment, representing a mere two percent of the entire bird genome, previously led scientists to believe that the avian family tree could be broadly divided into two major groups, with species such as flamingos and doves considered closely related evolutionary kin.

The discovery of a more precise family tree, which takes into account the deceptive nature of this genome segment, now proposes four primary avian groups and places flamingos and doves in more distant branches of the evolutionary lineage.

My lab has been chipping away at this problem of bird evolution for longer than I want to think about, said senior author Edward Braun, a professor of biology at the University of Florida. We had no idea there would be a big chunk of the genome that behaved unusually. We kind of stumbled onto it.

Decades ago, Braun and his team embarked on a journey to construct a family tree for the Neoaves, which encompasses the majority of existing bird species.

Initial analyses based on the genomes of 48 species led to the classification of the Neoaves into two overarching categories, segregating doves and flamingos into one group, with all other species in the opposing group.

A subsequent analysis involving 363 species, however, produced a divergent family tree that separated doves and flamingos into distinct categories.

Confronted with two conflicting interpretations of the avian family tree, the researchers delved deeper into the genetic data in search of clues that could clarify which version was correct.

When we looked at the individual genes and what tree they supported, all of a sudden it popped out that all the genes that support the older tree, theyre all in one spot. Thats what started the whole thing, Braun explained.

Further investigations revealed that a specific section of the bird chromosome had not undergone the expected genetic mixing through the process of recombination a fundamental mechanism in sexual reproduction that ensures genetic diversity within a species.

This suppression of recombination in a critical genome segment coinciding with the period of dinosaur extinction had caused flamingos and doves to appear more closely related than they truly are when considering the entirety of the genome.

The discovery of this anomalous genomic region, capable of misleading evolutionary analysis yet detectable more than 60 million years later, is a proof of the complexity of bird evolution and the challenges inherent in unraveling the true history of these avian descendants of dinosaurs.

Braun highlighted the potential for similar mysteries to exist within the genomes of other organisms, as yet undiscovered due to the lack of extensive genetic sequencing efforts.

We discovered this misleading region in birds because we put a lot of energy into sequencing birds genomes. I think there are cases like this out there for other species that are just not known right now, Braun concluded.

The study is published in the journal Proceedings of the National Academy of Science.

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Untold story of bird evolution revealed through genetics - Earth.com

Genetics

Genetic Test for Opioid Addiction Risk Should Be Withdrawn, Experts Tell FDA – Medpage Today

A group of 31 physicians and researchers called on the FDA to reverse its decision about AvertD, a test that uses DNA to identify whether adults may have an elevated risk of developing opioid use disorder (OUD).

In a letter to FDA Commissioner Robert Califf, MD, experts in genetics, addiction, psychiatry, public health, and device regulation asked the agency to revoke its recent approval of AvertD, based on research that doesn't support the methodology used by the test's sponsor.

The group also sent a letter to Centers for Medicare & Medicaid Services (CMS) Administrator Chiquita Brooks-LaSure asking CMS to deny coverage of AvertD.

The FDA approved AvertD in December 2023. The prescription-only genetic test from SOLVD Health is expected to be on the market soon.

AvertD detects the presence of 15 single nucleotide polymorphisms (SNPs) to help identify people who may have an increased risk of OUD. It's intended to be used in combination with clinical evaluations and patient assessments when oral prescription opioids are being considered to treat acute pain.

The major risks associated with AvertD are false-negative and false-positive results, the FDA said. Before the agency approved it, an FDA advisory committee voted strongly against an earlier version of AvertD, with false-negative and false-positive test results being a primary concern.

"The FDA seems to believe the test isn't a very good test but that it's better than nothing. They've got it wrong," said Andrew Kolodny, MD, an opioid policy expert at Brandeis University in Massachusetts, who signed the letters to the FDA and CMS.

"The problem isn't that the test has weak specificity and sensitivity," Kolodny told MedPage Today. "The problem is that it doesn't work at all. It's 100% bogus."

The AvertD test will harm people, Kolodny emphasized. "Patients who test negative, and their clinicians, will be left with a false sense of security, which can result in overuse of opioids and addiction," he said.

"Patients who test positive will be falsely branded as prone to a highly stigmatized condition," he continued. "And they may become fearful of taking opioids, even in situations where use is beneficial."

Genetic tests for opioid addiction have a checkered history. The FDA approval of AvertD last year was an industry first.

Like many genetic tests, confounding is part of the problem, Kolodny and colleagues said. An independent evaluation using methodology like the one used to test AvertD found that the algorithm gave the appearance of predicting genetic risk but was not a true measure of genetic risk, they noted.

"With proper controls for ancestry, genetic predictors from the 15 variants used in AvertD did not predict risk of OUD any better than chance," they said in their letters to the FDA and CMS.

SOLVD Health said it was aware of the letters to FDA and CMS and is reviewing them.

"We believe the FDA approval of AvertD represents a significant step forward in helping clinicians and patients have informed discussions about opioid-sparing techniques or alternative pain management options, if medically appropriate," the company said in an email to MedPage Today.

"Consistent with regulatory guidelines and standards, AvertD was clinically validated through a blinded, multicenter study evaluating participants at least 1 year after their initial exposure to prescription oral opioids," SOLVD noted. "In the hands of physicians, the test results can be a critical tool to help combat opioid use disorder."

The company also said it is conducting prospective post-market studies to further evaluate the test's performance in real-world settings.

Judy George covers neurology and neuroscience news for MedPage Today, writing about brain aging, Alzheimers, dementia, MS, rare diseases, epilepsy, autism, headache, stroke, Parkinsons, ALS, concussion, CTE, sleep, pain, and more. Follow

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Genetic Test for Opioid Addiction Risk Should Be Withdrawn, Experts Tell FDA - Medpage Today

Genetics

Scientists Discover 17 New Genetic Variants Linked to Alzheimer’s Disease – SciTechDaily

Recent research has uncovered genetic variants associated with Alzheimers disease risk, using whole genome sequencing to provide new insights into potential treatment pathways. This study highlights the importance of diversity in genetic research and aims to further explore these variants in future studies.

A recent study utilized whole genome sequencing to accurately identify particular genes and genetic alterations within regions previously linked to Alzheimers disease, aiming to guide the development of upcoming treatment and prevention approaches.

Uncovering genetic variants that contribute to the likelihood of developing Alzheimers disease is key to advancing our understanding of how to manage this incurable neurodegenerative disorder. A collaborative study between Boston University School of Public Health (BUSPH) and UTHealth Houston School of Public Health has pinpointed multiple genetic variants that could affect the risk of Alzheimers, moving scientists a step nearer to identifying biological mechanisms that could be targeted in the development of treatments and preventative strategies.

Published in the journal Alzheimers & Dementia: The Journal of the Alzheimers Association, the study utilized whole genome sequencing and identified 17 significant variants associated with Alzheimers disease in five genomic regions. This data enables researchers to pinpoint rare and important genes and variants, building upon genome-wide association studies, which focus only on common variants and regions.

The findings underscore the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimers disease, which is the fifth leading cause of death among people 65 and older in the United States. As the most common form of dementia, Alzheimers disease currently affects more than 6 million Americans and that number is expected to skyrocket to nearly 13 million by 2050.

Prior genome-wide association studies using common variants have identified regions of the genome, and sometimes genes, that are associated with Alzheimers disease, says study co-senior author Dr. Anita DeStefano, professor of biostatistics at BUSPH. Whole genome sequence data interrogates every base pair in the human genome and can provide more information about which specific genetic change in a region may be contributing to Alzheimers disease risk or protection.

For the study, the researchers conducted single variant association analyses and rare variant aggregation association tests using whole genome sequencing data from the Alzheimers Disease Sequencing Project (ADSP), a genetics initiative that the National Institutes of Health developed in 2012 as part of the National Alzheimers Project Acts goal to treat and prevent the disease. The ADSP data include more than 95 million variants among 4,567 participants with or without the disease.

Among the 17 significant variants that were linked to Alzheimers disease, the KAT8 variant was one of the most notable, as it was associated with the disease in both the single and rare variant analyses. The researchers also found associations with several rare TREM2 variants.

By using whole genome sequencing in a diverse sample, we were able to not only identify novel genetic variants associated with Alzheimers disease risk in known genetic regions, but also characterize whether the known and novel associations are shared across populations, says study co-lead and corresponding author Dr. Chlo Sarnowski, assistant professor in the Department of Epidemiology at UTHealth Houston School of Public Health.

The ADSP includes ethnically diverse participants, and the population-specific assessments focused on White/European-ancestry, Black/African-American, and Hispanic/Latino subgroups, as well as a multi-population meta-analysis. Historically, Black and Latino populations have been underrepresented in genetic studies of Alzheimers disease despite having a higher prevalence of the disease than other ethnic groups.

Including participants that represent diverse genetic ancestry and diverse environments in terms of social determinants of health is important to understanding the full spectrum of Alzheimers disease risk, as both the prevalence of the disease and the frequencies of genetic variants can differ among populations, says Dr. DeStefano. The sample sizes in the population-specific analyses were small, so the team had limited ability to detect associations, she says, but we replicated known population differences for the APOE gene, which is one of the best-known and strongest risk genes for Alzheimers disease.

In future studies, the researchers hope to examine the population-specific variants they identified in much larger sample sizes, as well as explore how these variants affect biological functioning.

We are currently working on expanding this research to be able to use whole genome sequencing with larger sample sizes in the ADSP to be able to look at the full array of genetic variants, not only within known Alzheimers disease genetic regions, but across the whole genome, says co-senior author Dr. Gina Peloso, associate professor of biostatistics at BUSPH.

Reference: Key variants via the Alzheimers Disease Sequencing Project whole genome sequence data by Yanbing Wang, Chlo Sarnowski, Honghuang Lin, Achilleas N. Pitsillides, Nancy L. Heard-Costa, Seung Hoan Choi, Dongyu Wang, Joshua C. Bis, Elizabeth E. Blue, , Eric Boerwinkle, Philip L. De Jager, Myriam Fornage, Ellen M. Wijsman, Sudha Seshadri, Jose Dupuis, Gina M. Peloso, Anita L. DeStefano and , 21 March 2024, Alzheimers & Dementia. DOI: 10.1002/alz.13705

The study was also co-led by Yanbing Wang while she was a PhD student in biostatistics at BUSPH. It was funded by the National Institute on Aging under Award Numbers U01 AG058589 and U01 AG068221.

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Scientists Discover 17 New Genetic Variants Linked to Alzheimer's Disease - SciTechDaily

Genetics

An hereditary liver disease cured with the help of gene scissors – EurekAlert

image:

The image depicts human skin stem cells from which new, liver-like cells have been differentiated. The hepatic biomarker APF produced by the differentiated cells is coloured red. The DNA of cell nuclei is displayed in blue.

Credit: University of Helsinki: Jalil, Keskinen et al.

Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a disease that has been enriched in the Finnish genetic heritage. In this severe metabolic disease, the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic acid and ammonia. Excess ammonia causes disturbances of consciousness, coma and even death.

In Finland, infants are screened for ASLD to determine the disease risk before symptoms develop. The treatment is an extremely strict lifelong diet and, in severe cases, a liver transplant.

Researchers from the University of Helsinki and HUS Helsinki University Hospital have succeeded in correcting the gene defect associated with argininosuccinic aciduria and demonstrated that the harmful metabolism caused by the disease can be cured.

In their recently completed study, they initially modified the skin cells of patients with ASLD into stem cells. Subsequently, the researchers reprogrammed the disease-causing gene defects in the stem cells using the CRISPR-Cas9 technique, known as gene scissors. Finally, the researchers guided the corrected stem cells to differentiate into liver cells to see whether the disease that impairs hepatic function was actually cured and that the fixed cells no longer produced the harmful argininosuccinic acid.

In our study, we demonstrated for the first time that the gene defect causing ASLD can be corrected with gene scissors without any adverse effects visible in the cells. The gene-corrected cells were also metabolically improved, says Docent of Stem Cell Biology Kirmo Wartiovaara, specialist in medical genetics, from the University of Helsinki and HUS.

The study was published in the esteemed American Journal of Human Genetics.

In the study, the researchers used mRNA encapsulated inside lipid nanoparticles to get the gene scissors inside the cultured cells.

This gene mixture we produced is based on the formula of a pharmaceutical product already in use, which may facilitate its clinical use in the future. Our next goal is to cure ASLD in mice, says Doctoral Researcher Timo Keskinen from the University of Helsinki.

The same gene editing technique works on living animals and humans, but we dont yet know how safe it is. This is why the matter has to be investigated first in laboratory animals, Keskinen adds.

There are already more than 7,000 hereditary diseases in the world. Finns, as well as other populations originating in small groups of people, have their own genetic disease variants that are more common in the population than elsewhere in the world. Many of these gene variants of our distant ancestors are such that if a child inherits the same variant from both parents, they may develop a severe disease.

Treatments are available for only a handful of hereditary diseases, and curative therapies are even more rare.

However, a cure could be possible if the gene defect causing the disease is eliminated entirely. Thanks to basic research carried out with the help of gene scissors and other precise gene-editing techniques, permanent fixes are gradually starting to emerge, Wartiovaara says.

The study is part of the doctoral theses of Sami Jalil and Timo Keskinen, supervised at the Biomedicum Stem Cell Center of the Biomedicum Helsinki research institute by Docent Kirmo Wartiovaara and Mervi Hyvnen, DMedSc.

American Journal of Human Genetics

Genetic and functional correction of Argininosuccinate Lyase Deficiency in patient cells using CRISPR Adenine Base Editors

4-Apr-2024

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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An hereditary liver disease cured with the help of gene scissors - EurekAlert

Genetics

World Anthropology Day showcases multifaceted programs | Binghamton News – Binghamton University

Binghamton Universitys Anthropology Department hosted a World Anthropology Day celebration on Feb.15, with 12 archeology and biological anthropology labs in three science buildings showcasing the departments full range of academic offerings.

Featured labs focused on plants (paleoethnobotany), animals (zooarchaeology), remote sensing and historical analysis, skeletal analysis (osteology), forensic anthropology and human genetics, just to name a few. Professors shared their research topics and what opportunities await curious students in the wide world of anthropology.

At the Lab for Anthropometry and Biomarkers, students interested in biology could learn about organismal biology, exosystems and biomarkers in the field of biological anthropology. Associate Professor Katherine Wander led the presentation at her new lab in Science 2.

Examining these patterns of information can further research in identifying biological changes, assessing disease risk and contributing toward advancements in public health. In the fall, Wander will offer a new lab course called Biomarkers: Measurement & Interpretation, which will offer an in-depth understanding of how biomarkers are measured and why we use them.

Biomarkers are the things that are easy to measure that give us that systems-level interpretation, she said.

If students are interested in excavating artifacts and piecing together their place in our shared history, they may be inclined to visit the Public Archaeology Facility (PAF) in Science 1. Peppered throughout the room were artifacts excavated from across the Northeast, from rusted cannon balls from the French and Indian War to stone tools discovered in the Susquehanna River.

Its really cool to dig a hole and find things that people havent touched in either hundreds or thousands of years, said PhD student Kara Jonas.

PAF offers cultural resource management services to clients as well as community-based programs and a lab open to student volunteers.

Something that I really love is working with local communities (on a site), and having their input and their perspective completely change the stories that you can tell and the questions you can ask, Jonas said.

This summer, Maria ODonovan, the director of the Master of Arts in Public Anthropology program, will offer an archeology field school in Broome County, giving students the chance to gain a wide variety of archeological skills and earn 6 credits.

Archeology is that great combination of history and science, ODonovan said. For students who may be on the fence about anthropology, she offered some advice about where to begin: Start with an Intro to Anthropology course, where you can learn a little bit about all of the different four subfields, and then you can gauge whether youre interested in anthropology as a whole, and if you are, where your specific interests lie.

At Professor Rolf Quams paleoanthropology lab, skeletons of animals and skulls of human ancestors were prominently on display. A degree in paleoanthropology can offer students a chance to understand the wonders of human evolution by examining ancient fossils.

I really enjoy learning about human evolution, but theres also the capacity for traveling and digging up dirt, said PhD student and graduate teaching assistant Cai Caccavari, MA 23. There is a lot of biochemistry in the field, and we rely heavily on it for understanding the relationships beyond just looking at the morphology, because just looking at the bones can only get us so far.

Biochemistry is a crucial part of investigating the past and is used in various ways in the study of anthropology. Coupled with human evolution, students can investigate the growth of development of fossils while utilizing other tools such as CT scans.

If you like biochemistry and human evolution, you could go to graduate school, Caccavari said.

Lecturer Lubna Omars Archaeological Analytical Lab is devoted to the study of human-animal interactions through bone remains. Through zooarcheology, students can piece together small pieces of bones to create a vivid picture of the life of various animals.

It is a type of field for people with specific types of skills. You have to be into solving complex puzzles because the bones are fragmented, Omar said.

The work is closely tied to that of archaeologists, since in excavations, many bones are found in ancient garbage pits, she said.

Cultural resources management usually hires zoo archaeologists like me to help them with their work, otherwise they wont understand what happened at the site, she explained.

At the Archaeology Teaching Lab, Assistant Professor Sbastien Lacombe studies people of the past by analyzing their ancient technology. Students in his lab can also examine the social implications and purpose of crafting these technologies and see the variations of culture across different periods of human evolutionary history.

You have anthropology everywhere. Do you want to be a doctor? Biological anthropology. Do you want to work for the parks service? Archaeology, Lacombe said. Its the human dimension that distinguishes us from any other.

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World Anthropology Day showcases multifaceted programs | Binghamton News - Binghamton University

Genetics

Resilience to periodic disturbances and the long-term genetic stability in Acropora coral | Communications Biology – Nature.com

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Resilience to periodic disturbances and the long-term genetic stability in Acropora coral | Communications Biology - Nature.com

Genetics

Rare genetic variants found to have a large impact on obesity risk – Drug Target Review

Researchers have gained a deeper understanding of the neural biology of obesity, which could offer potential drug targets.

A new study has identified rare genetic variants in two genes, BSN and APBA1, that have some of the largest impacts on obesity risk discovered to date. Led by researchers at the Medical Research Council (MRC) Epidemiology Unit and the MRC Metabolic Diseases Unit at the Institute of Metabolic Science, both based at the University of Cambridge, whole exome sequencing of body mass index (BMI) was performed in over 500,000 individuals.

Obesity is a significant public health concern as it is a substantial risk factor for other serious conditions, including cardiovascular disease and type 2 diabetes. However, the genetic reasons for why some individuals are more prone to weight gain are not fully understood. Now, the new study indicates thatBSNandAPBA1play a role in the transmission of signals between brain cells, suggesting that age-related neurodegeneration could affect appetite control.

In the past, research has identified multiple obesity-associated gene variants conferring large effects from childhood, acting through the leptin-melanocortin pathway in the brain. The leptin-melanocortin pathway plays a crucial role in appetite regulation. Although BSNandAPBA1encode proteins found in the brain, they are not currently known to be involved in the leptin-melanocortin pathway. Additionally, unlike the obesity genes previously identified, variants inBSNandAPBA1are not associated with childhood obesity. This led the researchers to believe that they may have discovered a new biological mechanism for obesity. A better understanding of the neural biology of obesity may offer more potential drug targets to treat it in the future.

For the whole exome sequencing, the team used UK Biobank and other data. They discovered that genetic variants in the geneBSN, also named Bassoon, can increase the risk of obesity as much as six times. It was also associated with an increased risk of non-alcoholic fatty liver disease and of type 2 diabetes. The Bassoon gene variants were found to affect one in 6,500 adults, meaning they could affect about 10,000 people in the UK.

The scientists worked closely with AstraZeneca to replicate their findings in existing cohorts, using genetic data from individuals in Pakistan and Mexico. Notably, this enabled the team to apply their findings beyond people of European ancestry.

Dr Giles Yeo, study author based at the MRC Metabolic Diseases Unit, commented: We have identified two genes with variants that have the most profound impact on obesity risk at a population level weve ever seen, but perhaps more importantly, that the variation in Bassoon is linked to adult-onset and not childhood obesity. Thus, these findings give us a new appreciation of the relationship between genetics, neurodevelopment and obesity.

This study is published in Nature Genetics.

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Rare genetic variants found to have a large impact on obesity risk - Drug Target Review

Genetics

INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY … – PR Newswire

SAN DIEGO, April 3, 2024 /PRNewswire/ -- Leading commercial organizations and patient advocacy groups in the field of cancer genetics today announced the founding of the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT), a coalition whose mission is to increase evidence-based access to genetic testing for people with or at risk of hereditary cancers.

Founding laboratory members include organizer Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, and Quest Diagnostics. Volpara Health has also recently joined the coalition. Founding patient advocacy organization members include AliveAndKickn and FORCE. The coalition seeks to provide a collective voice in support of the progression of medical professional and industry guidelines for genetic testing for inherited mutations that increase cancer risk.

With growing insight into the role of genetic testing in cancer risk management and treatment, the population of individuals who benefit from knowing their genetic mutation status continues to increase. As leaders in the genetic testing and hereditary cancer field, the founding members believe it is their responsibility to help drive awareness and inform changes that will equalize access for those whose outcomes could benefit most from testing.

One of the primary objectives of INTERACT is to ensure policy and guidelines keep pace with the growing body of evidence surrounding inherited cancer risk.

Hereditary cancer genetic testing has been shown to improve outcomes by identifying those most at risk and informing management strategies. For instance, patients who test positive for a BRCA1 or BRCA2 mutation have up to 87% lifetime risk for breast cancer, and up to 40% lifetime risk for ovarian cancer.1,2 In addition, there are numerous other genes that increase risk for various forms of cancer. Armed with this information, patients and physicians can improve management through increased surveillance, chemoprevention, targeted therapeutics or risk-reducing surgical measures. As an example, studies have shown that prophylactic mastectomy in BRCA1/2 mutation carriers results in up to a 97% reduction in the risk for contralateral breast cancer, while salpingo-oophorectomy reduced ovarian cancer incidence by 69-100%.1,2

Despite the benefits of a patient and their provider knowing mutation status, disparities in access and uptake of cancer genetics services are well documented.3 INTERACT intends to improve access to genetic testing, with the goal of reaching vulnerable populations who may not currently be aware of their risk or their need for increased screening or other interventions.

"With Lynch syndrome, one of the most common hereditary cancer syndromes, patients have up to 80% lifetime risk for colorectal cancer4, but an estimated 95% of at-risk individuals have not been identified5," said Robin Dubin, Executive Director of AliveAndKickn. "To really improve survival rates with informed screening strategies, we need to help drive education and policies that support genetic testing for all those at risk."

Among the challenges to broadening access to genetic testing for hereditary cancer risk is a time lag in updating guidelines and medical policies after the publication of new medical literature. INTERACT will work to bring these differences to the attention of guideline committees and medical professional societies in an effort to bridge the gaps and reduce disparities in access to appropriate testing nationwide.

About INTERACT The mission of INTERACT is to bring together specialized genetic testing laboratories and patient advocacy groups to support the progression and evolution of medical policy and industry guidelines for cancer genetic testing. Our members are recognized institutions in the field of cancer genetics. Current commercial members include Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, Quest Diagnostics, and Volpara Health. Advocacy members include AliveAndKickn and FORCE: Facing Our Risk of Cancer Empowered. We seek to develop the evidence base and rationale to inform changes in cancer-related genetic testing policies to expand patient access to evidence-based testing.

For more information, visit: https://interactcoalition.org/

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Contact: [emailprotected]

SOURCE INTERACT Coalition

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INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY ... - PR Newswire

Genetics

Christensen Genetics – AG INFORMATION NETWORK OF THE WEST – AGInfo Ag Information Network

Seth Christiansen of Christianson Genetics of Westin, Idaho, explained to me why winter is busier than summer for his operation. Today, our work centers on embryo transfer, and during the winter specifically would be when we do most of that. So during the summer, it's relatively empty Here. The cattle are out grazing during the normal growing season. That would be when they're out on pasture as opposed to being here in the dry lot through that whole winter feeding period. This would be the time when on a normal farm they wouldn't be doing nearly as much just because it's not the growing season. But while everything's frozen, that would be when we are synchronizing the cows, giving them a series of injections to bring them in to heat at the same time, and then doing embryo transfer on those cattle. So pulling embryos out of their very best 5% of the herd and transferring those embryos into the other 95% of the herd, there's about 400 animals total here. Only 20 of those are actually the mothers to the upcoming calf crop. They produce the embryos that are carried by the other cows. And as we implant all those embryos through the winter, the cows that conceive early, so conceive in that December, January time frame to carry one of those embryo transfer pregnancies, We'll keep those as part of the herd and we'll calve those cattle and raise those embryo transfer calves, the cows that conceive later on in the cycle. It's late for us, but it's right on time for most everybody else. If they conceive in March or April, they're going to have a January or February calf, which is when most seed stock operations prefer to calve by bringing in these cattle, doing all this extra work through the winter, we're able to add a lot of value to these animals. The average animal is going to come in to the program as an open female worth 1002 to $500 once we've done all of our winners were and added those embryos to those cows, confirmed those pregnancies through the winter, the average female there is going to be worth between$5000 and $6000.

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Christensen Genetics - AG INFORMATION NETWORK OF THE WEST - AGInfo Ag Information Network