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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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- 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
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… by the NHGRI Genomic Medicine Working Group (GMWG). … Genomics and Medicine …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, … Group has compiled a list of interesting advances. … Genomics and Medicine …
Fact Sheet
Understanding gene therapy for sickle cell disease
… worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which … met over the course of four workshops. … The Democratizing Education Project welcomes your feedback about the sickle … your healthcare provider or a clinical trial team. … These education materials are the outcome of the conversations from …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… diagnostic genetic test Broad clinical deployment of rapid genomics-based precision care in infants is eminently … annually to be highlighted as the most significant. … Genomics and Medicine …
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.
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational … therapies once available.  NIH leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a … of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Investigator Institution Title Grant Number Mendelian Genomics Coordinating Center Susanne May University of Washington University of Washington (UW) Mendelian Genomics Data Coordinating Center U24HG011746 Mendelian Genomics Research Centers Stephen Montgomery Stanford …
Health FAQ
Discuss these questions with your doctor or health care provider.
… your doctor or clinical trial team. … The Democratizing Education Project welcomes your feedback about the sickle … help their quality of life. Visit our gene therapy education page to stay updated on the newest therapies. … It …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… use in a bone marrow transplant. …  … The Democratizing Education Project welcomes your feedback about the sickle …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… appointments and bloodwork. …  …  … The Democratizing Education Project welcomes your feedback about the sickle …