Search Results
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… and their association with lifespan in Iceland 3. Impact of digitally enhanced genetic results disclosure in diverse families 4. Chronic disease polygenic risk scores for clinical implementation in … GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Genomic variants that cause common periodic fever have spread … be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The … National Institutes of Health, determined that specific genomic variants that cause a disease called familial …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion of PKD cysts slowly replaces much of the normal mass of the … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has … expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … the environment. Our improved understanding of the genetic basis of autoinflammatory diseases has revolutionized our …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… David Conti, Alaina Vidmar, Tanya Alderete University of Southern California Longitudinal integration of environmental exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… The National Institutes of Health (NIH) announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in Milwaukee will be providing DNA sequencing … NIH announced six UDN grants that will fund studies of the function of genes thought to play roles in particular …