Search Results
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson's disease. A small …
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 … glucocerebroside cannot be adequately degraded. … 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 …
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, …
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 … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …
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, … colectomy for uncontrolled bleeding, this is increasingly rare in Crohn's, especially with new immune therapies. … … Disease Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
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.
… genomics through sculpture. … 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 …
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.
… Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … … Genetic Disorders … A list of genetic, orphan and rare diseases under investigation by researchers at or …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth Defect, … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic …
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 … disturbance and cognitive decline. … 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 …
Event
NHGRI will host a two-day symposium, on December 2-3, 2021, examining the history of eugenics and scientific racism and their complex legacies in the modern health sciences.
… All slides are in PDF format. Day One: December 2, 2021 Time Topic/Speaker 10:00 - 10:15 … 3:20 - 3:30 p.m. Closing Chris Donohue (NHGRI) Day Two: December 3, 2021 Time Topic/Speaker 10:00 - 10:15 … misconceptions continue to persist, resulting in modern day discrimination and bias? We look to the history of …