Search Results
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… the National Institute on Aging (NIA) and the National Human Genome Research Institute (NHGRI), both part of NIH. … , first announced by the U.S. Department of Health and Human Services in May 2012 and updated annually. Developed … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… Discovery and Interpretation of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul … affect and understand the effects of those variants on human health and disease. We seek recommendations for … Variation Identification, Association, and Function in Human Health and Disease …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice … Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Network (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… National Human Genome Research Institute (NHGRI) researchers have … institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National …
Fact Sheet
Sickle cell disease resources for patients
… for a Research Study  U.S. Department of Health and Human Services (HHS)  Human Research Volunteer Informational Videos  U.S. Department of Health and Human Services (HHS)  NIH Clinical Research Trials and You – …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… expressed overall optimism about participating in human genome editing clinical trials, but were concerned … Social and Behavioral Research Branch  of NIH's National Human Genome Research Institute (NHGRI). "This study couldn't … A major theme across all groups was hope that the new human genome editing treatments would reduce suffering, …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … Genetics. The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… gut bacterium from the sea of trillions of microbes in the human microbiome. … , is funded by the Technology Development program of the Human Microbiome Project (HMP). The HMP is supported by the … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …