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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Data Sharing Policies
Sample informed consent language, aligned with each of the informational elements of consent for genomic data sharing (GDS) outlined by NIH as important to convey, in language understandable to prospective participants.
… Informational Elements Outlined by NIH Guidance  Genomic and phenotypic data, and any other data relevant for the … federal and state laws and regulations.  *Note: NIH and NHGRI strongly encourages the broadest appropriate future use … be shared in the scientific literature or through other public scientific resources, such as data repositories or …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… Eric Green, M.D., Ph.D. … NHGRI’s ‘Genomics2020’ Strategic Planning Process continues … a Goldfish, Start with a Blueprint NIH Scientists Link Genetics to Risk of High Blood Pressure Among Blacks Notable … Trials to Use Genomics in Treating Chronic Diseases New ASHG Strategic Plan Time to End the Manel Tradition NIH …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive. … A genetic disorder is a …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… applications or other uses. This page summarizes genetic and genomic privacy in these domains, along with information … one such database paired with genealogical databases and public records. To prevent this, NIH controls access to … the database of genotypes and phenotypes  (dbGaP), the NHGRI Genomic Data Science Analysis, Visualization, and …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… in the future. … ADHD often appears to run in families, and research studies have suggested that there may be a … goals of this study is to facilitate the diagnosis of ADHD and the development of improved treatments, possibly … By Mail: Research Coordinator/ADHD Genetic Research Study NHGRI / NIH Building 10, Room 10C103 10 Center Drive …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… pausing admissions to undergo strategic planning and development. NHGRI wants to hear from you on the current needs and … of undergraduate level courses in biochemistry and genetics. Counseling experience, either paid or voluntary. …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… Bay University) in 1985. She earned her Ph.D. in Human Genetics from the Medical College of Virginia (now called … University) in 1990. Her doctoral thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in … of the Genetics and Proteomics Core Facilities. She joined NHGRI in 2003. She was the deputy director of the Medical …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… apparent that the year is going to be a very busy one for NHGRI and for the field of genomics more generally. Many of … , to learn more about his serendipitous journey into genetics research and what he is excited about for the future … thoughts. …  The American Society of Human Genetics (ASHG ) Board of Directors recently released a statement …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted access to genomic summary … we decided that while we assess the state of the science and any potential risks to research participants, NIH … summary results from unrestricted access (i.e., open and public) to controlled-access. While we were employing this …