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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- 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) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… compensate for the mutation. Thus, they have normal immune systems. However, since males have only one X chromosome and … Clinical Research on SCID In 1990, National Institutes of Health (NIH) researchers performed the first successful human …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… 1: Setting the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of … 2:15 p.m. Keynote 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - … and Prevention Nathan Price, Onegevity and Institute for Systems Biology 1:25 - 1:40 p.m. Presentation 2: …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… adaptable. This flexibility has implications for public health and could inform the design of synthetic proteins. … … without becoming ill themselves, which is a major public health issue as these viruses sometimes jump to human …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… sickle cell trait (SCT) and most never have related health complications. Researchers have now identified three health conditions for which people with SCT are at increased … Institute (NHGRI), part of the National Institutes of Health. "We need more research to clarify the health outcomes …
FAQ
On September 6, 2023, the National Human Genome Research Institute hosted a pre-application webinar for the genomics-enabled learning health systems (gLHS) NOFOs: RFA-HG-23-041 and RFA-HG-23-042. Questions were answered during the webinar.
… demonstrating the imperative for broader adoption within health systems to enhance patient care. Applicants should discern … projects. … Do applicants need to have a learning health system in place to apply? Yes, given the significant …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… muscular dystrophy that affects the muscles and other body systems. … Myotonic dystrophy is an inherited type of … muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle … muscular dystrophy that affects the muscles and other body systems. … Myotonic Dystrophy, Muscular Dystrophy, Type 1 …
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.
… identification, association, and function in human health and disease. If you are in the Boston area, we welcome … General Hospital on July 17 and Genomics in Medicine & Health Strategic Planning Workshop on September 26-27. To … and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the Newborn Sequencing …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… tests and how results of DTC-GT may affect their patients’ health, wellness and medical decision making. … The … the field. … Tools for Collecting Family History My Family Health Portrait Web-based tool to create a family pedigree with health information for patients and their providers to …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… end, NHGRI plans to establish a new intramural precision health research program. Dr. Les Biesecker, Chief of the … researchers for conducting patient-specific precision health research. With the prolific advances in the … It is with that spirit that the new NHGRI precision health research program aims to “seize the moment” and …
Staff
Dr. Ebony Madden is the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research Institute.
… Dr. Madden is the the Health Equity and Workforce Diversity Program Director in the Training, Diversity and Health Equity Office at the National Human Genome Research … of the Director, National Institute of Environmental Health Sciences (NIEHS) from 2006-2009. Her research …