Search Results
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 …
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 …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … United States. Approximately 100,000 Americans have the disease. In the United States, sickle cell disease is most …
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 … mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … father of Blake, an 8-year-old child with an undiagnosed disease whose symptoms are currently being researched by the …
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 …
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 …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research focuses on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus … medicine and rheumatology. … Biography … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey A. …
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). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced … exploring other disorders, including inflammatory/autoimmune and bone/skeletal diseases, and Alzheimer's …