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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… — like something in the environment or the presence a disease — can cause the cell to adjust which types of RNA it … and changes to these modifications have been linked to disease. Over 180 different RNA modifications have been … This includes using RNA as a biomarker , or indicator, of disease. Tests that look at RNA might help doctors detect a …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… in a genomic region known to be associated with increased risk for type 2 diabetes-related traits, which may give … Prolonged high blood sugar levels can lead to heart disease, kidney disease and vision loss. Currently, diabetes has no cure, but …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… on PBS’ Finding Your Roots Seven questions for a rare disease warrior Genome: Unlocking Life's Code February 2020 …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… gene ZRANB3 , which may influence susceptibility to the disease in sub-Saharan African populations. The gene could … step was to ask: What does ZRANB3 do? How does it confer risk for T2D, and by what mechanisms does it act? That is the … and other factors may influence the impact of a gene on disease in a given population.  “The findings of this study …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… numerous genomic variants that may play a role in human disease. However, there is limited information about how any … specifically affect genome function or actually confer risk for disease. Improved approaches are thus needed for linking …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… studies on genomic variation related to human health and disease. It was launched by NHGRI in 2008 in response to the … the influence of common genomic variants on complex disease. The GWAS Catalog provides a consistent, searchable, …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… of the NHGRI Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. Charles has designed and led major … and has greatly expanded genomics-based studies of human disease on the African continent. As a leading genetic … to evaluate which genes and genomic variants contribute to disease. The awardees for this renewal period will aggregate …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Dr. Bodine contributed to both biological insights about disease-causing mutations and the ability to overcome the …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… area. … Genomics Research Gene therapy for rare eye disease safe but lacks efficacy in early trial Notable …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… natural history study on patients with a rare genetic disease, familial platelet disorder. Our goals – … or improves health inequities. They also study sickle cell disease, a condition that is affected by emerging curative … Many such secondary genomic findings are related to cancer risk and heart conditions. The Genomics Service Research …