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Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, … understand, prevent, detect and treat disease. … Human Subjects Research, Genetics Research, Clinical Trials, …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… not accept all applicants due to the complex nature of the body and the diseases being investigated. … (UDP) was organized and established by the National Human Genome Research Institute (NHGRI), the National … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Mjoseth … Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, … Director, Francis S. Collins, M.D., Ph.D., in the Medical Genomics and Metabolic Genetics Branch at the National Human …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … on disease because there are millions of variants in the human genome, and most are rare and do not have a big impact … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2019.
… Year 2020 Appropriations Process 8 Mourning the Loss of Sydney Brenner 9 Elected to National Academy of Sciences … 11 ASHG Position Statement: Responsibility to Recontact 12 Genomics In the News The NASA Twins Study: A Multidimensional Analysis of a Year-Long Human Spaceflight Adopt a Moratorium on Heritable Genome …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2021.
… 2020 NHGRI Stratetic Vision Establishing a 2020 Vision for Genomics Nature - 2020 NHGRI Strategic Vision Scientific American – A Vision for the Next Decade of Human Genomics Research Forbes - How Human Genome Sequencing …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2020.
… Fellow Genetics and Education Fellow 2 30 th  Anniversary of Human Genome Project Launch Interviews with Genomics Leaders Video Testimonials 3 2020 NHGRI Strategic …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… and Events Calendar 4 New Chief Executive Officer, NIH All of Us Research Program Selection of Dr. Joshua Denny as Chief … the Loss of David Hogness 13 2019 American Society of Human Genetics Awards 14 Schottenstein Prize & Oscar B. … Website GSP Consortium Website Centers for Common Disease Genomics (CCDG) Website GSP Analysis Centers Website …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… Jeannine Mjoseth … In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in …