The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
The ASHG 2025 Annual Meeting will highlight advancements in rare disease research through long-read sequencing and collaboration. Genetic mechanisms of cancer risk and the clinical impact of latest epilepsy neurogenetics advances will also be showcased, along with decoding human aging and AI-powered genomics.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
Thousands of human genomics and genetics researchers, clinicians, and experts will attend the annual ASHG meeting in Los Angeles, presenting nearly 400 live presentations, over 2,500 published posters, and 200 exhibitors. The program features exciting sessions highlighting breakthroughs in research progress and emerging issues.
The American Society of Human Genetics reports that human genetics and genomics contributed $265 billion to the U.S. economy in 2019, with a five-fold increase since 2010. The field is expected to drive significant further growth given new areas of application.
A recent study has identified genetic variants associated with reproductive success, which may provide insights into the biology of fertility and infertility. The research found that diverse biological mechanisms contribute to reproductive success, implicating both neuroendocrine and behavioral influences.
The COVID-19 Host Genetics Initiative presents the results of a genome-wide association study, exploring genetic determinants of COVID-19 susceptibility, severity, and outcomes. The initiative brings together over 1,100 researchers from 46 countries to share data and accelerate research.
Studies identified genetic variants associated with COVID-19 severity, including a locus on chromosome 3 and novel genes. Researchers also explored therapeutic strategies and transmission dynamics of the virus.
Research suggests that genetic predisposition to increased weight is causally protective for breast and prostate cancer. Heavier women are less likely to develop breast cancer due to additional differences between groups, while heavier men are less likely to develop prostate cancer, particularly when exposed to carcinogenic substances.
A new study reveals that women over 65 with breast cancer have a significant risk of developing the disease due to disease-causing mutations in predisposition genes. The researchers found that up to 20% of these women may still be at high risk for breast cancer, even without prior diagnosis.
Researchers used cell-free DNA to monitor infectious and immune-related diseases, including COVID-19 infection, and identified tissue-of-origin through methylation markers. This technology has potential clinical applications in screening for tissue damage, detecting cancer early, and patient care.
A genome-wide association study identified a significant signal from the human leukocyte antigen (HLA) region on chromosome 6, specifically the HLA-B *55:01 allele, associated with a 33% higher relative odds of penicillin allergy. This finding is based on self-reported data and electronic health records of over 1 million individuals.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
Scientists have quantified the rate of Cas9-caused off-target mutagenesis in mice through whole-genome sequencing, revealing that guide RNA design can significantly reduce unwanted mutations. The study highlights the need for improved precision in gene editing, particularly in therapeutic applications.
Researchers found that direct-to-consumer genetic tests can result in clinical false-negative results, particularly for certain populations. For example, 40% of individuals with MUTYH mutations would have been missed, while 19% of Ashkenazi Jewish individuals with BRCA1/2 mutations would also be missed.
Researchers found that cystic fibrosis carriers have a higher likelihood of experiencing bile duct obstruction and other digestive system phenotypes. The study used large-scale genomic data from the UK Biobank to identify these associations, which may provide answers for carriers who were previously left without information.
Researchers have discovered a causal link between high blood pressure, obesity, and reduced lifespan in a massive genetic analysis of 700,000 individuals. By analyzing polygenic risk scores, the team identified blood pressure and obesity as key drivers of human longevity.
Researchers have created a mouse model with a fully replaced human version of the MAPT gene, allowing for accurate genetic therapy development and evaluation. This breakthrough enables scientists to study the role of the human version of the gene in humans and develop therapies.
A survey of 1,718 individuals from 69 countries found Hispanic and Latinx people willing to participate in genomics research studies, but with notable differences when segmented by country of birth and residence. Researchers emphasize the need for diversity in genetics research, including community-oriented approaches and cultural rele...
Scientists have assembled a set of genetic sequences to improve the human reference genome, which better reflects global genetic diversity and provides more accurate interpretations of whole-genome sequencing data. The new resource benefits researchers studying diverse human populations and future sequencing studies.
A large-scale study implicates 10 new genes in the development of schizophrenia, providing insights into the genetic underpinnings of the disorder. The findings also suggest a connection between schizophrenia and other neurodevelopmental disorders.
Researchers sequenced genomes from 426 individuals across 13 African countries, revealing impressive genomic diversity and unique genetic variants among ethnolinguistic groups. The study sheds light on the impact of ancestral migration, cultural demography, and infectious disease on the human genome.
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.
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.
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.
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.
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.
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.
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...
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.
Researchers developed a polygenic risk score for lifespan based on weighted contributions from relevant genetic variants, predicting which participants were likely to live longest. They also found associations between genetic variants and Alzheimer's disease, heart disease, and smoking-related conditions with overall lifespan.
A study using single-cell transcriptomics reveals the cellular and functional changes underlying type 2-high asthma, which can lead to more severe disease. The research provides new insights into how airway epithelial cells produce mucus and could inform the development of targeted treatments for asthma and other airway diseases.
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.
Researchers used genetic and survey data from over 210,000 participants to identify correlations between known and novel skin cancer risk factors. Combining multiple factors improved predictive accuracy for skin cancer risk, particularly when including a genetic risk score.
Researchers have developed a new file format for functional genomics data that enables data sharing while protecting personal information of research participants. The format reduces leakage and promotes collaboration in the field.
Whole genome sequencing and exome sequencing identified clinically relevant variants in 79% of patients, guiding diagnosis, risk assessment, or drug targets. The study's comprehensive approach enables rapid analysis within 40 days, making it a promising tool for pediatric cancer treatment.
The study found that Andean populations adapted to agriculture and high-altitude environments differently from other global populations. They experienced significant population reduction after European contact, while also showing selection for immune-related genes.
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.
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.
Eric S. Lander, a pioneer in the study of the human genome and Human Genome Project, has been honored with the William Allan Award for his substantial and far-reaching scientific contributions to human genetics. The award recognizes his work on genetic mapping, genome-wide association studies, and cancer genomics.
Jan M. Friedman, a Professor of Medical Genetics at the University of British Columbia, is receiving the Arno Motulsky-Barton Childs Award for his exceptional contributions to human genetics education globally. He has produced influential work on clinical genetics education and has led efforts to increase its presence in medical schools.
Mary-Claire King has been recognized by ASHG for her tireless advocacy on using genetics to help people and families worldwide. Her lab has helped reunite 130 families through mtDNA sequencing, and her work with the UN Forensic Anthropology Team has identified victims of extra-judicial execution.
Cecilia Lindgren receives ASHG Mentorship Award for sustained exemplary mentorship, recognizing her wide-ranging impact on mentees' research fields and career paths.
Sekar Kathiresan receives the 2018 Curt Stern Award for his groundbreaking work identifying genetic factors underlying cardiovascular disease risk. His research has led to the development of medicines that mimic protective mutations, reducing heart attack risk.
The American Society of Human Genetics (ASHG) recognizes Dr. Andrew Adey's contributions to cancer development and progression research. His novel single-cell technologies are being used worldwide to understand epigenetics and disease models.
A large-scale study found that low physical activity and inefficient sleep patterns intensify genetic risk factors for obesity, confirming previous findings with new, more objective measurements. The study also showed a gene-activity interaction between physical activity levels and genetic variants associated with obesity.