The American Society of Human Genetics affirms the importance of shared genetic data in medical advancement. The Society's core principles prioritize individual confidentiality, robust protection measures, and balanced assessment of risks and benefits for participants and society.
A study of 1,075 patients under 50 found that healthy behaviors such as regular exercise, quitting smoking, and managing cholesterol levels can significantly reduce the risk of premature heart disease. In contrast, genetics played a less significant role in those with multiple modifiable risk factors.
A gene in mice affects both bacterial populations and bile acid levels, revealing novel interactions between microbes and metabolites. The research integrates genetic mapping with metabolomic data, providing insights into the complex factors shaping microbial communities.
Researchers use machine learning to analyze mouse behavior while foraging for food, identifying 71 reproduceable behavioral sequences as the underlying building blocks for more complex behavior patterns. The study reveals genetic influence over behavior and provides a new approach to understanding complex behaviors in humans.
A study of 18,424 Han Chinese adults found that regular jogging and other exercises like mountain climbing and yoga reduce BMI in individuals predisposed to obesity. These findings suggest that genetics are not destiny and that exercise can help mitigate genetic effects on obesity.
A recent study published in Applied and Environmental Microbiology found that genetics has a greater impact on the microbiome of mice than their maternal birth environment. The researchers tested two different inbred laboratory strains of mice and found that the offspring's microbiomes were similar regardless of which parent was black ...
A new study led by Trinity College Dublin researchers has found that genetics account for about 52% of the risk of developing motor neuron disease. The study involved 1117 people diagnosed with MND and found that those who carried an abnormal copy of the C9orf72 gene were more likely to have inherited it from their mothers.
Charles Rotimi and Sarah Tishkoff received the 2019 Curt Stern Award for their pioneering work on African genetics, genomics, and global health. Their research has significantly advanced our understanding of metabolic diseases, genetic diversity, and health disparities in African populations.
ASHG honors Drs. Weitzel and Blazer for their exceptional contributions to cancer genomics education, impacting thousands of patients globally. Their initiatives have prepared clinicians for leadership roles in translational research and improved healthcare outcomes.
Huda Zoghbi, MD, is recognized for her contributions to the field of human genetics, including discoveries of genes responsible for Rett syndrome, spinocerebellar ataxia type 1, and other conditions. Her work has enriched the development of human genetics and its applications in science, medicine, and health.
Stylianos E. Antonarakis is awarded the William Allan Award for his life's work on understanding the human genome and its relation to complex disorders. He has made significant contributions to the genetic basis of Mendelian and complex genetic disease, chromosome 21 biology and Down syndrome.
Geneticist Hal Dietz receives ASHG Mentorship Award for his sustained pattern of exemplary mentorship. Dr. Dietz has mentored over 50 successful mentees, many of whom have received prestigious awards and independent funding.
Stephen Montgomery, a Stanford University geneticist, receives ASHG's Early-Career Award for his innovative work on gene regulation, rare genetic variants, and exercise-induced molecular impacts. He has made significant contributions to the field, mentoring numerous students and postdoctoral researchers.
Rick Guidotti, founder of POSITIVE EXPOSURE, receives ASHG Advocacy Award for his innovative use of visual arts to celebrate human diversity. He has promoted genetics awareness, funding for biomedical research, and integrating genetics into health systems.
Gene banks are shifting to bioinformatics and big data analytics to enhance biodiversity preservation. Three major challenges arise: tracking accessions, avoiding duplications, and maintaining genetic integrity. A genomic-driven approach can address these issues by utilizing genotypic information.
A genome-wide association study has identified five new genetic risk loci for harmful alcohol use, confirming one previously identified locus. The study provides insight into the role of genetics in this behavior and highlights the importance of habitual alcohol use on various health and behavioral traits.
A study by Clemson University Center for Human Genetics reveals that there is extensive genetic variation in the propensity to consume cocaine and methamphetamine, as well as change in this behavior over time. The research uses Drosophila melanogaster fruit flies to assess naturally occurring variation in drug self-administration and f...
Anne Villeneuve, PhD, receives the 2019 Genetics Society of America Medal for her groundbreaking research on meiosis and chromosome inheritance. Her work has significantly impacted our understanding of major aspects of the meiotic program.
A study by Simon Joly and Elizabeth Wolkovich found that a plant's genetics can be used to accurately predict when its leaves will burst bud in spring. The research showed that genetic differences between individual specimens within a species affect how well they adapt to climate change.
The largest study of its kind has identified 190 links between genetic code and birth weight, with two-thirds being discovered for the first time. Both maternal and fetal genetic effects play a role in influencing birth weight, with some genes promoting growth while others restrict it.
Researchers have discovered an unexpected role for the gene GRIK5 in linking vascular biology to eye disease, utilizing biobanks, electronic health records, and zebrafish. The study found reduced expression of GRIK5 associated with 18 different eye diseases, including retinal detachment, cataract, and glaucoma.
The Human Genetics Scholars Initiative aims to increase workforce diversity in human genetics research by providing intensive mentoring, skill-building, and community-building opportunities. The program will support up to 240 diverse young researchers over five years.
The American Society of Human Genetics has issued a position statement outlining the responsibility to recontact research participants with new genetic findings. The statement recommends that researchers make reasonable attempts to recontact participants if the reinterpretation is expected to affect medical management, but not strongly...
Jin Yun Helen Chen, MS, CGC, was awarded the 2019 ACMG Foundation Lovell Genetic Counselor Award for her work on Phenotype Genotype Variability among Sibships with Spinal Muscular Atrophy. The award recognizes the critical contribution of genetic counselors to clinical genetics and newborn screening.
Dr. Samuel Huang receives the Pfizer/ACMG Foundation Clinical Genetics Combined Residency Fellowship Award to enhance his clinical research training and expertise in biochemical genetics and therapeutics. He aims to improve patient care through translational genomics and policy changes.
Dr. Bryce Seifert, Laboratory Genetics and Genomics Fellow at Duke University School of Medicine, has been awarded the 2019 Richard King Trainee Award for his outstanding research publications in Genetics in Medicine.
Sarah Brnich, an MD-PhD student, received the award for her work on classifying germline genetic variants by their functional consequence. Her research aims to improve clinical variant interpretation and incorporate functional data into guidelines.
Cynthia Gubbels received the 2019 Perkin Elmer Travel Award for her platform presentation on rapid turnaround whole exome sequencing for critically ill neonates. This award supports researchers to present their findings and network with colleagues, facilitating career advancement and research advancements.
The ACMG Foundation has recognized six next-generation fellows with the Takeda/ACMG Foundation Genetics and Genomics Residency Fellowship Program. Dr. Elizabeth Jalazo will focus on pediatric genetics, while Dr. Joshua Baker will work on lysosomal storage disorders research.
The ACMG Foundation established a student travel scholarship fund to address the genetic workforce deficit, supporting medical and graduate students attending the 2019 ACMG Annual Clinical Genetics Meeting. The scholarship fund will benefit recipients through educational sessions, peer engagement, and research opportunities.
Michael Snyder received the 2019 George W. Beadle Award for his contributions to systems biology, including the development of widely-used technology for simultaneous gene analysis. His work has enabled the tracking of RNA molecules, proteins, and genes in humans, paving the way for personalized medicine.
A study by Massachusetts General Hospital found that none of the US commercial laboratories offering noninvasive prenatal screening (NIPS) fully meet the American College of Medical Genetics and Genomics recommendations for genetic disorder detection and reporting. The report highlights inconsistencies and inadequacies in NIPS test res...
Daniel Hartl receives the 2019 Thomas Hunt Morgan Medal for his influential contributions to experimental and theoretical genetics research, combining mathematical models with cutting-edge techniques. His work explains how DNA mutations are passed through generations, influencing species divergence.
The revised guidelines address pharmacogenetics, diagnosis of mental disorders with new molecular genetic technologies, and ethical challenges of genetic testing in psychiatric patients. Key findings include a lack of consensus on CNV testing in adults with mental illness and the need for more research to identify relevant genes.
Bruce Weir receives the 2019 Elizabeth W. Jones Award for Excellence in Education, recognizing his 40-year history of training researchers in statistical analysis methods. His work includes the Summer Institute in Statistical Genetics and the Genetic Data Analysis textbook, which have trained thousands of professionals worldwide.
A recent study identified 57 gene regions associated with insomnia symptoms and found a causal link between insomnia and coronary artery disease. The research suggests that genetics play a role in insomnia symptoms and could lead to new therapeutic targets for insomnia treatment.
Researchers found a link between genetic similarity and parenting in shaping virtuous character traits, including responsibility and conscientiousness. The study used data from 720 pairs of siblings to analyze the relationship between genetics and environment.
Researchers at Ben-Gurion University of the Negev found that a child's height gap with their parents is a key predictor of when they will begin puberty. The study suggests that genetics do not play a major role in determining the age of puberty, but rather an individual's growth needs and body response to those needs.
Scientists at deCODE genetics in Iceland have published the first genetic map of the human genome developed using whole-genome sequence data. The study reveals that recombination and de novo mutation are linked mechanisms generating human diversity.
Researchers developed a new way to predict breast cancer risk by combining genetics, family history, weight, age at menopause, alcohol consumption, and hormone replacement therapy. The online calculator can identify different risk groups and inform tailored screening and preventative therapy.
The American College of Medical Genetics and Genomics (ACMG) has released new guidelines to help providers develop policies/procedures for re contacting patients after revising genomic test results. The guidelines aim to address the complex questions surrounding patient re contact, including legal, ethical, and practical issues.
A study by the University of Wyoming research team found strong population genetic structure among California mountain lions, with some populations exhibiting extremely low levels of genetic diversity. This highlights the need for conservation efforts to prevent further fragmentation and ensure connectivity among habitats.
Researchers found that genetics and vocal behavior show distinct patterns in two desert populations, suggesting speciation is underway. The study's findings indicate that dialect differences might indeed be indicative of new species.
Researchers used a massive dataset of over 100,000 individuals to identify constrained regions of genes that may underlie developmental disorders. These 'constrained' regions are intolerant to DNA changes and may cause disease when mutated, according to the study published in Nature Genetics.
Researchers found shared genetic factors between Alzheimer's disease and high blood lipid levels, suggesting potential for early diagnosis and targeted therapies. The study analyzed 1.5 million individuals and identified specific DNA variants that increase the risk of developing both conditions.
A new analysis of an aggregated set of family trees suggests that the heritability of life span is well below past estimates, likely no more than seven percent. This finding could be due to assortative mating, where people select partners with similar traits, including longevity.
Researchers have assembled the largest sets of African genomic data, creating a resource to study genetic structure, disease, and protein function. They identified 10 new associations specific to African populations, including links between genetic variants and diseases such as alpha thalassemia and diabetes.
A new approach to genetic analysis identifies novel associations between genetic variants and ecological zones, replicating previously known associations with environmental variables. This study paves the way for further investigation into environmental factors and genomics, aiming to address unequal representation in clinical genomics.
Research from King's College London found that genetics explain 57% of the differences in A-level exam results and 46% of the difference in achievement at university. Shared environmental factors influence university choice, but become less important over time.
Researchers have identified 102 genes associated with autism spectrum disorder (ASD) through the largest genetic sequencing study to date. This study distinguishes between ASD and intellectual disability, providing valuable insights into the genetics of ASD.
A ground-breaking UK Biobank paper describes the release of whole genome genetic data from 500,000 participants. This will enable researchers to understand the underlying genetics of disease and interactions between genetic and lifestyle factors.
The Center for Human Genetics is conducting research to better understand the genetic causes of rare diseases using a combination of genome-wide association analysis and gene-editing techniques. The team has identified novel transcribed regions that play a crucial role in regulating complex traits.
A massive global genetic study has identified over 500 new gene regions influencing blood pressure, more than tripling the known number. The study now explains almost a third of estimated heritability for blood pressure.
Scientists at UMass Amherst have published the first-ever whole genome of the Canada lynx, a key conservation tool for studying evolution, disease, genetics and habitat connectivity. The release provides critical information on genetic health, demographic history and adaptive variation to inform wildlife management and policy decisions.
A team of researchers from Clemson University and two other institutions is working to understand the genetics and structural mechanics behind stalk lodging in corn and sorghum. The study aims to break down complex traits into smaller, intermediate characteristics that can be easily grasped at both genetic and structural levels.
The American College of Medical Genetics and Genomics emphasizes the need for affordable treatment options for rare and ultra-rare diseases. Key recommendations include preventing abuses of the Orphan Drug Act and aligning drug packaging with dosing recommendations to reduce waste. The organization urges policymakers to develop simple,...
A systems genetics study in mice identified molecular signaling pathways that predict resilience or susceptibility to sleep loss. The analysis revealed that fatty acid metabolism influences brain activity and phenotypes, challenging the brain-centric view of sleep regulation.
James R. Lupski, MD, PhD, receives the Victor A. McKusick Leadership Award for fostering and enriching human genetics development, as well as its integration into science, medicine, and health. Dr. Lupski's research focuses on understanding mutational mechanisms and linking specific mutations to human disease.
A new genetic link has been found between the gene IRF2BPL and a previously undiagnosed neurological disorder characterized by progressive neurodevelopmental regression. Mutations in IRF2BPL were identified in seven individuals, including five with severe symptoms and two with milder characteristics.
An international research team has identified more than 1,200 genetic variants associated with educational attainment. The study found that a polygenic score developed from these variants can predict 11-13% of the variation in years of completed schooling, comparable to demographic factors like household income.