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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 …
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 …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and … supported by the United States government, including any genomics research funded by or carried out at NIH, is subject … variation, to identify the genetic underpinnings of disease, and to research how genomics can be applied in the …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, Ph.D., the director of the Division of Genome Sciences - the NHGRI division that … the position with extensive experience leading large-scale genomics research programs. Most recently, she co-managed The …
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 …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project … which in turn will empower genetic studies of human disease.” The now-complete human genome sequence will be …
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 …