Search Results
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… joins the rest of the country in celebrating National DNA Day, which commemorates two historical milestones: the … how those advances relate to people’s lives. National DNA Day activities were certainly present on the NIH Campus in Bethesda, Maryland. On National DNA Day itself, genomics was in full display through multiple …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the … functioning. There are three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …
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. …
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
On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a … “The Ladder,” celebrating DNA and children. National DNA Day is a unique day when students, teachers and the public can learn more … New DNA statue to be unveiled at NIH on National DNA Day …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
… in the House of Representatives that created National DNA Day, which celebrates the completion of the Human Genome … away in March 2018 - by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her … Louise M. Slaughter National DNA Day Lecture …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… This list of genetic, orphan and rare diseases is provided for informational purposes only and … A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a …
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 … the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. In 1993, …