Search Results
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 … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of …
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. … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have …
Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
… Shirley Freeman is an Intramural Program Assistant for the Center for Research on Genomics and Global Health (CRGGH) housed under the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch at the National Human Genome Research …
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… … Request an Accommodation … The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly … details are updated as information becomes available. For more information, please contact Les Biesecker at email … and In-Person … MD … 50 South Drive … Room 1227 … Center for Precision Health Research Seminar Series … The NHGRI …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… (GW) School of Medicine and Health Sciences (SMHS). For over a decade, she has also served as a Special Volunteer at the Center for Research on Genomics and Global Health at the National Human Genome …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … a network of researchers to develop and apply methods for mapping candidate functional elements in the genome, and … the scope of these efforts to include characterization centers, which will study the biological role that candidate …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of … diagnosis is feasible to implement in academic medical centers around the United States. In 2018, new awards …
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 …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic … may expand the number of possible therapeutic targets for this disease and potentially identify a greater number of … (1-800-422-6237). NHGRI is one of the 27 institutes and centers at the National Institutes of Health, an agency of …