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News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… genomics research on its head. Instead of trying to find a mutation in the genomic sequence of a person with a … the genomes of healthy participants, then analyzed the data to find "putative," or presumed, mutations that would … the MGMGB. The research is part of ClinSeq, a large-scale, NIH research study that explores the fundamental medical, …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease … Cost of hotel and associated travel to and from the NIH is covered, as allowed per NIH policies. Ongoing, NOT …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… The National Human Genome Research Institute (NHGRI) wants to ensure that all populations are knowledgeable about the … progress was a requirement of the initiative, and a Data Analysis and Coordinating Center was funded in 2008. In … grant the institution will have a significant number of NIH peer-reviewed research projects in one or more of the …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… He manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science. Apart from genomic data …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact … acceptability and accessibility of genetics or genomics to all communities is highly encouraged, particularly … research uses of biological samples and of associated data obtained from cancer-related settings (e.g., participant …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care. … of broader types of healthcare settings, will enrich the data that result from CSER2," said Regina Smith James, M.D., …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… conducted research on mice with a rare disease similar to one in humans, hoping their findings may eventually help … National Human Genome Research Institute (NHGRI), part of NIH, published their research in the Jan. 20, 2015, online … of liver cancer compared to a control group of mice. Their data showed that the rate of cancer dropped in proportion to …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… aspects of society from how we understand our ancestry to the promise of precision medicine for all individuals and … we started generating massive amounts of human genomic data, there'd be lots of societal factors to consider. Now, … ends up worrying about it for the rest of their life. From NIH-NHGRI Hello this is Joy. Excellent question! Like most …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… standards available for qualitative interview data? NHGRI recognizes that methods for de-identification of … are developing, and existing tools may have limitations. NIH guidance refers researchers to the following tools for de-identification:  Guidance on …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, … has created high-quality and easily accessible sets of data, tools and analyses that are being used extensively in …