Search Results
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the … focus on identifying genetic contributions to human disease. … Center investigators specialize in statistical … serves as a major link between NHGRI and the Center for Inherited Disease Research, an NIH-supported facility located …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the … program's medical team. In general, it takes 8 to 12 weeks for the UDP to evaluate an application, and the waiting list …
Educational Resources
An inherited trait is one that is genetically determined.
… Inherited … An inherited trait is one that is genetically determined. … Inherited Trait, Mendelian Genetics, Genes, Family Health History, Genealogy … Inherited, as related to genetics, refers to a trait or …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … February 27 event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, M.D. , and her colleagues, have … diseases, go to the Genetic and Rare Diseases Information Center (GARD), which is supported by the NHGRI/National …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly … in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including … Charcot-Marie-Tooth Disease Information Page National Center for Biotechnology Information Genetics and Rare …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a central biorepository for storing UDN research participant tissue samples. "The …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… is critical. All of these factors contribute to a need for new and more innovative approaches, including new … to ongoing genetic, genomic and ELSI research efforts. A Center should: Develop and operate with a highly effective … and Social Issues for Precision Medicine and Infectious Disease Gail Geller, Sc.D., $4 million (FY 2016-2019) This …
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 … of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA …
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 … will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center (PSC) provides protocol navigation assistance to NIH … Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. …