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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
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Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … of California (UC) at Irvine, successfully prevented cell death in a Drosophila fruit fly model that carries the … The drug used by UC Irvine researchers to prevent the cell death in the fruit fly is known as an HDAC inhibitor, …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … variant discovery for enough different examples of disease architectures and study designs to better understand …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … post-doctoral fellowship in a lab that studies pathways or cell biology, currently or potentially related to a human … at the diseases? Metabolomic, transcriptomic, single cell? How do you decide where to start given the dearth of …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Ph.D. … Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … The National Human Genome … methods to study several pediatric diseases, including sickle cell disease, severe childhood malnutrition, pediatric HIV in …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood … that make up red blood cells. … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin …
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). OXPHOS occurs in microscopic factories in the cell called mitochondria and extracts energy from food and … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ …
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 … to kidney failure. … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 …