The new center aims to better understand diseases and treatment response by combining human genetics and microbiome research with AI. Researchers will investigate how genetic variation and the gut microbiome jointly shape disease progression and treatment response.
Researchers at UCLA created a 'cell village' approach to study the genetics of brain cell fitness, which revealed that individuals with autism are more likely to have faster-dividing cells. This discovery could lead to early mechanistic understanding of how autism develops and improve personalized treatment.
The Association for Molecular Pathology has elected new leaders for several committees, including Genetics, Hematopathology, Infectious Diseases, Informatics, and Solid Tumors. The newly elected leaders will work together to drive the organization's mission forward.
The journal maintains a high Impact Factor of 6.2 and ranks in the first quartile, demonstrating its influence in medical genetics. ACMG attributes its success to dedicated editors, reviewers, authors, and staff.
The American College of Medical Genetics and Genomics (ACMG) has published a statement providing recommendations for the reporting of variants of uncertain significance (VUS) in germline genetic and genomic testing. The guidance aims to promote clarity, consistency, and best practices in the reporting of VUS findings, supporting approp...
Researchers integrated social determinants of health with genetic information to predict disease risk. Social, behavioral, and environmental factors contributed as much as genetics to disease risk for four out of six studied conditions.
Research reveals genetic variations linked to obesity are more strongly associated with high BMI in younger generations, suggesting a stronger link between genetics and environment
Researchers identified four genomic regions associated with longevity genes and found 12 rare protein-altering genetic variants that might influence longevity. One of these variants mapped to the CGAS gene, which is involved in producing an inflammatory response when DNA detects damage.
A pediatric ophthalmologist is leading a $1 million NIH grant to study the genetics of cataracts in children. The goal is to develop a comprehensive AI-assisted database of genes associated with potential diseases.
Alan G Hinnebusch's pioneering work established the paradigm and mechanism of translational control underlying the Integrated Stress Response. His discovery of key regulators and their conserved role in humans has led to a greater understanding of stress responses and potential therapies.
Research led by University of Utah biologists shows that host genetics and sex influence how influenza viruses evolve. Female mice from a specific strain exhibit accelerated virulence gains compared to male mice.
The Journal of Medical Genetics has retracted most of a 2019 guest-edited special issue due to issues with objective peer review and editorial assessment in 7 of the 8 papers. The remaining paper was found to be sound, according to an external review by a subject specialist.
The Stanley Family Foundation has renewed its $1 billion commitment to psychiatric research at Broad Institute, transforming the field of psychiatric genetics and schizophrenia/bipolar disorder research. Human genetics data from the Stanley Center has provided unprecedented clues to the brain biology underlying these conditions.
Cognitive neuroscientists are integrating genetics and AI to study language development and disorders. AI-based models can predict language development in children, while genetics research links rhythm disorders and dyslexia. The brain's wiring connecting language regions also reveals that language is a system, not a single 'thing'.
The ACMG Foundation will present customized adaptive bicycles to children with genetic or medically complex conditions at the 2026 ACMG Annual Clinical Genetics Meeting. The bikes offer life-changing opportunities for mobility, independence, and participation in everyday activities.
Preclinical studies reveal that MR hinders cell proliferation, triggers cell cycle arrest, and enhances standard treatments. Early-phase clinical trials report positive results on safety and tolerability, suggesting utility of MR as a complementary treatment strategy.
Researchers from Georgia State University, Marcus Autism Center and Emory University are collaborating to investigate the causes of profound autism in children. The 7,500 child study will explore patterns in development, behavior, brain activity and genetics to find more effective therapies.
Dr. Qiliang Ding, a trainee researcher, received the inaugural 2026 Rising Scholar Trainee Award for his innovative work on clinical implementation of emerging genomic technologies. His research focuses on data analytics and bioinformatics to advance genomic diagnostics.
Gupta received the award for her article on systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications. Her study found that at least 1.6% of variant classifications used in electronic health records were outdated based on current ClinVar classifications.
The American College of Medical Genetics and Genomics announces press registration is now open for the 2026 ACMG Annual Clinical Genetics Meeting. Journalists can explore groundbreaking research, emerging technologies, and advances shaping personalized medicine.
Dr. Bianca Seminotti has received the ACMG Foundation 2026 Early Career Travel Award for her abstract on mitochondrial function in congenital NAD deficiency due to biallelic NADSYN1 variants. The award supports promising young genetics professionals attending the ACMG Annual Clinical Genetics Meeting.
Eva Vailionis, a cancer genetic counselor at Memorial Sloan Kettering Cancer Center, has been awarded the 2026 ACMG Foundation Genetic Counselor Best Abstract Award. Her abstract on TMEM127 pathogenic variants presents key findings on prevalence and tumor characteristics in patients with these variants.
Dr. Bo Yuan has been recognized with the 2026 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award for his pioneering work in genetic disorders, artificial intelligence-driven tools, and pharmacogenomics. His research aims to improve clinical care, scientific understanding, and public health through innovative technologies.
Dr. John C. Carey, a globally respected clinical geneticist and educator, will receive the 2026 David L. Rimoin Lifetime Achievement Award for his career-defining contributions to medical genetics. He has authored over 400 peer-reviewed articles and co-authored widely used textbooks.
A study analyzing twin cohort data found that genetics may explain ~50% of human lifespan, with a significant increase to approximately 55% when external mortality is accounted for. This estimate aligns with the heritability of other complex physiological traits and species life-span studies.
Researchers found a strong link between human genetic factors and the oral microbiome, with specific genes influencing cavity and tooth loss risk. The study analyzed over 12,500 individuals' saliva-derived DNA, revealing genome-to-genome interactions between human and bacterial DNA.
The American College of Medical Genetics and Genomics announces Medical Genetics Awareness Week 2026, celebrating the power of collaboration in medical genetics. The week aims to bridge awareness gaps about the field and its professionals.
The 2026 ACMG Annual Clinical Genetics Meeting will bring together experts in medical genetics and genomics to present groundbreaking research on personalized medicine. Journalists can access leading experts and timely story ideas on emerging technologies like AI in genetics and gene editing, with complimentary registration available.
The collaboration aims to integrate AI-powered analytics with clinical expertise to accelerate data-driven cancer care. MD Anderson researchers will leverage SOPHIAs AI technologies to develop bioinformatics pipelines for rapid RNA-sequencing data interpretation.
A new study by Mass General Brigham researchers found that genetic variants thought to always cause inherited blindness occur in only 28% of people who carry them. The findings challenge traditional models of rare disease genetics, suggesting a need for updated understanding and potentially impacting the development of new treatments.
A new study reveals significant gaps in genetic evaluation and testing for Black and low-income patients, despite higher rates of testing after receiving results. Researchers call for expanded workforce training, diversification, and policy changes to build equitable systems.
The American College of Medical Genetics and Genomics has been awarded full, four-year reaccreditation by the Accreditation Council for Continuing Medical Education, reflecting its commitment to delivering evidence-based education in medical genetics and genomics. The reaccreditation marks 25 years of uninterrupted accreditation for ACMG.
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.
A new AI-driven app, AortaGPT, aims to improve diagnosis and treatment of heritable thoracic aortic diseases by translating complex genetics concepts into actionable care recommendations. The app can also detect subtle facial features associated with genetic conditions affecting the aorta.
The American College of Medical Genetics and Genomics has published a new clinical practice resource guiding clinicians in managing individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1 genes. The resource provides evidence-based recommendations on personalized risk assessment, surveillance, and risk-r...
The acquisition unifies genetics and stem cell research expertise to accelerate discovery and translate science into therapies. Researchers will gain access to advanced platforms, including the NYSCF Global Stem Cell Array, to study disease mechanisms and test treatments.
Dr. Amin's transformative insights reshape international understanding of depression genetics, identifying novel therapeutic targets and biomarkers for diagnosis and treatment. Her systemic disease model challenges traditional views of depression as a brain disorder.
Joseph Ecker, a Salk Institute professor, has received the Barbara McClintock Prize for his groundbreaking work in plant genetics and genomics. His research explores the epigenome, revealing critical details about plant immunity, drought recovery, and modern photosynthesis.
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.
A novel genome-wide association study identifies previously unrecognized connections between human genetics, gut fungi, and chronic disease. The study establishes that host genetics can influence the fungi that live in the gut and provide clues about their abundances.
The Lung Cancer Genetics Study has launched an open-source data platform, offering no-cost access to de-identified data from consenting participants. Researchers can conduct analyses on germline genotyping, self-reported health and exposure data, and cancer-causing driver mutations, with longitudinal datasets to be added over time.
A new study found that mothers' genetics may have a greater impact on their children's weight than previously thought. Researchers analyzed genetic and health data from over 2,600 UK families to examine the association between parental BMI and child birthweight, BMI, and diet.
The latest American Psychiatric Association journal issues feature groundbreaking research on psychiatric genetics, exploring the role of genetics in mental health. Additionally, studies examine the effectiveness of telehealth prescribing for controlled substances and mental health advocacy efforts to drive policy change.
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.
A large Danish study shows that children with a high genetic risk for ADHD are more likely to experience severe neglect and childhood maltreatment. This risk is also influenced by parental mental illness, with girls generally exposed to more maltreatment than boys.
The American College of Medical Genetics and Genomics has released its updated 2025 secondary findings gene list v3.3, adding three new genes to the list and introducing a new publicly available webpage to aid clinical labs in determining reportable variants. The update aims to ensure patient benefit from advances in genomic medicine.
A new Swedish twin study found that genetics largely determine an infant's crying duration, with 50% of variation explained by genes at 2 months and 70% by 5 months. Environmental factors also play a role in infants' ability to settle during the first months of life.
The American College of Medical Genetics and Genomics (ACMG) is organizing a new advisory framework to uphold the integrity of nationally coordinated newborn screening recommendations. The ACMG will convene a virtual stakeholder roundtable to gather input on the structure and function of the new expert advisory group.
The Association for Molecular Pathology (AMP) has announced the election results for 2026-2027 leadership positions, including President-Elect Yassmine M.N. Akkari and Secretary-Treasurer Jonathan A. Nowak. The newly elected leaders will drive AMP's mission to advance molecular diagnostics.
The Genome of Europe initiative is conducting a public awareness survey in five European countries to evaluate citizens' knowledge of genetics and attitudes toward using genomics in personalized healthcare. The results will help identify knowledge gaps and guide future communication strategies.
A new study found that childhood cancer survivors' genetics and therapy type play a significant role in determining their risk of developing a second cancer. Radiation exposure was the most significant contributor to secondary cancer risk, accounting for about 40% or more of the risk.
A large-scale genetic study identified the FOXP4 gene as a significant factor in Long COVID, linked to lung health and immune response. The study found a strong relationship between severe COVID-19 cases and Long COVID, highlighting potential biological factors contributing to the condition.
A recent study published in Nature found that millions of pregnancies worldwide are lost each year due to new mutations in the fetus. The researchers discovered that essential genomic sequences are more frequently mutated in lost fetuses compared to adults.
A research team has pinpointed the genetic location behind thorns in blackberries, enabling plant breeders to accelerate the creation of thornless varieties. The study used genome-wide association studies and genotyping to identify a specific region of DNA associated with the prickly trait.
Sorek's work expanded understanding of how bacteria protect themselves from viruses, identifying dozens of previously unknown viral defense systems. His discoveries led to a better understanding of the human immune system and identified promising candidates for antiviral therapies.
A recent study found that strict adherence to High-Throughput Sequencing (HTS) technology based carrier screening can achieve high efficiency in preventing severe thalassemia birth defects. The study identified 15.07% of women as carriers of thalassemia and confirmed 59 fetuses with severe thalassemia, all of which were in high-risk co...
Researchers analyzed the genetic information of over 70,000 infants to discover 11 genetic markers that influence when babies take their first steps. This study suggests that genetics plays a significant role in determining when children start walking, with some kids naturally starting earlier or later due to their genetic propensity.
A recent study reveals that a specific genetic variation affects the adherence of an anaerobic bacterium to tumor cells, promoting colorectal cancer progression. The study highlights the complex dynamics between host genetics and intratumoral microbiota in CRC progression.
Colm Nestor's research aims to understand genetic differences in men's and women's health, with potential applications in disease treatment and prevention. His unique approach combines basic research with clinically relevant issues, aiming to uncover new insights into the mysteries of the X chromosome.
Professor Mark Peifer advocates for teaching eugenics in college genetics classes to promote critical thinking and informed decision-making. He argues that understanding the history of eugenics is crucial for up-and-coming scientists, as it informs current political discourse and the responsible use of genetic technologies.