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 development and application of … focus on identifying genetic contributions to human disease. … associations with health and disease. Members of the center perform research at the forefront of genomics and have …
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 … 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.
… National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides … 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 progressive degeneration of … 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 …
Training, Diversity and Health Equity Office (TiDHE)
The Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at institutions that have not recently received significant funding from NIH.
… The Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at institutions that have not recently … The objectives of the Centers for Genome Research Consortium are to carry out innovative, …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program has funded research grants from … 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 …
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 involuntary movements, … will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. …
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 … Symptoms of Gaucher disease vary greatly among those who have the disorder. The …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed … research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … Finally, a one-year grant supports a central biorepository for storing UDN research participant tissue samples. "The …
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 … Federal regulations and policies related to human subjects research. The NHGRI PSC maintains close working relationships … Protections (OHSRP) to create a network of resources for the investigator wishing to conduct clinical research. …