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Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria is a rare disease characterized by accelerated aging. … Progeria is a rare disease characterized by accelerated aging. The classic form … premature aging. Affected persons commonly die from heart disease during late childhood. … Progeria is a rare disease characterized by accelerated aging. …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain some individual benefit, such as diagnosis of a disease or access to a treatment in development. …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Expanding the Network The UDN is a research study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research accomplishments for a single, notable research achievement or a larger body of work of exemplary … outstanding trainees in the Division of Intramural Research by granting the NHGRI Intramural Research Award. …
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 … Huntington's disease (HD) is an inherited neurological illness causing … generations. Symptoms of HD generally appear in mid-life. Research: Unlocking the Mysteries of Huntington's Disease The …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… People with sickle cell disease (SCD) can experience excruciating pain all over their … bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …
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 … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss …
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 … 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 … nervous system in babies with Tay-Sachs. Another avenue of research is gene therapy in which scientists transfer a …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories into general medical practice. Now, two … for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a …