Search Results
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through multiple funding … has evolved from NIH's participation in the International Human Genome Sequencing Project (HGP). In addition to … creating data resources and tools. The specific activities of the Genome Sequencing Program since the end of the HGP …
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 …
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 programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in … to cellular stress differently. National Institutes of Health researchers contributed to this effort, led by …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… Researchers for the first time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of trillions of microbes in the human microbiome. … disease, according to a study published online the week of June 23, 2014, in the Proceedings of the National Academy …
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 … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …
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, …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… July 2024 DNA Science and Human Genetics Lawrence Brody, Ph.D. National Human Genome Research Institute   Slides Biography … July 2024 History of Genomics and the Human Genome Project Eric Green, M.D., … The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between …