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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch. "They may also be useful for patients with …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… the application of genomics to medical science and clinical care. Dr. Ramos received her M.P.H. and Ph.D. in the multidisciplinary field of public health genetics from the University of Washington where her research … genomics research. Dr. Ramos was a Project Scientist for Clinical Genome Resource (ClinGen), a consortium of nearly …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… associations and genome-scale analytic technologies to clinical problems of disease diagnosis and treatment" said Dr. Manolio. "This knowledge will enable us to meld clinical and genomic research for rapid improvements in … of Maryland at Baltimore, and her Ph.D. in human genetics and genetic epidemiology from the Johns Hopkins …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… and motivating factors for using genetic tests in clinical care. At NHGRI, Dr. Hindorff was the lead Program Director for the Clinical Sequencing Evidence-Generating Research (CSER) program, a consortium to assess the clinical utility of genome sequencing in diverse settings and …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… Hall 3:00 p.m. — 4:45 p.m. Evolutionary and Population Genetics Newfoundland and Labrador: A mosaic founder … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Local Ancestry at the MHC … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Developing an African …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… the United States, learning health systems are a type of clinical practice that bridges research and patient care. … common, more and more genomic data are available in clinical settings, and learning health systems present an … this network together to move genomic discoveries into clinical practice. Learning health systems present an …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of … physicians have been unable to diagnose despite extensive clinical investigation. These diseases are difficult for … go through the Gateway, rather than through individual clinical sites in the network. The Gateway replaces what had …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… of clinicians and information scientists will conduct a clinical trial of approximately 6,000 patients to measure cost effectiveness and clinical outcomes of using pharmacogenomics, examining whether clinical genotyping can help improve patients' health more …
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… many types of evidence that can be collected, including clinical, behavioral, molecular, emotional and financial. NHGRI programs such as the Clinical Sequencing Exploratory Research Network (CSER), the … Howard Jacob, Ph.D., director of the Human and Molecular Genetics Center at the Medical College of Wisconsin in …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Coordinates …