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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- 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
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Severity of SCD Symptoms … Related Content … New NIH studies seek adults and families affected by sickle cell …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… last year of high school, I decided to pursue a career in medicine because I found it challenging and stimulating and … in a genetics training program. So, I applied to internal medicine first. I thought my chances of getting a position … genetic disorders, with the hope that these preclinical studies will eventually lead to clinical trials and decrease …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… Manolio, M.D., Ph.D., director of the Division of Genomic Medicine at NHGRI. “This is an area where the consortium’s … Wiley, Ph.D., program director in the Division of Genomic Medicine. One of our biggest concerns is that data used to … Ph.D., program director in the Division of Genomic Medicine. “By doing so, we will build a robust and …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… Ultimately, that knowledge may lead to precision medicine, where a doctor is not just treating a tumor, but … online April 17 in Epigenetics & Chromatin, is leading medicine closer to these goals. Like all roads leading to … and treatments to move one step closer to precision medicine. "In recent years, CIMP has been studied in tumors …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically … proband may also be invited to participate in these G2P studies to further characterize the biological significance … the arteries feeding your heart; a test that provides some predictive value about the risk of future heart attacks. The …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the many … Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find … the disorder,” says Dr. Shchelochkov. “This is the kind of predictive power we want to continue harnessing for future …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… Robb Rowley, M.D. … Dr. Robb Rowley is an Internal Medicine Physician and is the Program Director for the … genetic research in support of implementing genomic medicine. Prior to starting at NHGRI, he spent thirteen years … … Robb Rowley, M.D. … Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… with engaging the public about genomics and genomic medicine. Her efforts will also include working with the … base needs to be established for implementation of genomic medicine, and this includes documenting, understanding, and … base needs to be established for implementation of genomic medicine, and this includes documenting, understanding, and …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland, on … medical record systems for genomic discovery and genomic medicine implementation research. … Hyatt Bethesda One … 20814 … eMERGE & CSER: The Convergence of Genomics and Medicine … NHGRI meeting focused on research that rapidly …