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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).
… Search for specific publications by title, author, category and/or … the list of categories and their definitions . … Related Resources … 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.
… a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . … Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, …
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.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … 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.
… This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … with the National Human Genome Research Institute. … For Patients and Families …
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.
… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational … Research, Programs, and Progress (NHLBI)  … Additional Resources … NIH statement on new FDA-approved gene therapies …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through … your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … or a clinical trial team. … Explore This Page … Additional Resources …  A starter guide for patients … Navigating sickle …
Health FAQ
Discuss these questions with your doctor or health care provider.
… your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … . These educational materials are for informational purposes only. They are meant to promote … my loved one with sickle cell disease? … What kind of resources are out there for caregivers? … Explore this page … …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… physical health. Because of this, it’s important to care for your mental and physical health as you consider a gene … your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … or a clinical trial team. … Explore this page … Additional resources … Mental health includes emotional, psychological …
Fact Sheet
Understanding gene therapy for sickle cell disease
… and other experts worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene … your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … research communities. They include helpful information and resources for people with sickle cell disease and their …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… how these components differ and other treatment options for sickle cell disease, such as bone marrow transplant.  … your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … gene therapy approaches used in treatment … Additional resources … Understanding gene therapy approaches … …