Search Results
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 … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear … is a carrier. Type 2 and Type 3 Gaucher disease are not as common. …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. … accompanying consents and support documents in preparation for submission to the IRB for initial review. Assistance with writing, editing and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … or protect against the disease. The NIH awarded grants for using innovative new technologies and computational methods for the analysis. The scientists also will seek insights into …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations … Sidransky's lab, analyzed more than 200 individual mice for as long as two years. Also contributing to the study were …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… the meeting were to: Define currently available approaches for using host genomic information in the diagnosis, … underrepresented groups) Identify research opportunities for increasing implementation of host genomic information in … Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in Bethesda MD. The …
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
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a free, online collection of materials for use in the classroom and for self-directed learning in genetics and genomics, created … 2010, G2C2 developers have assembled educational materials for genetic counselors, nurses, pharmacists and physicians …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… The NHGRI 'Genomics 2020' strategic planning process is gaining … and those interested in the biomedical applications of genomics. The next 'Genomics 2020' Town Hall will take place … our strategic planning events, please be sure to sign up for email updates  and monitor the 'Genomics 2020' calendar …
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 … will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. …