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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 Program7
- 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
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group (GMWG) compiles 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 . …
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 NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for …
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 … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …
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 people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …
Event
A social media campaign, organized by NHGRI and its partners, that focuses on healthcare provider genomics education.
… Kong SAR, India, Indonesia, Japan, Kenya, Mexico, Nepal, New Zealand, Nigeria, Peru, Qatar, South Africa, Spain, Sri … Genome Research Institute and its partners are organizing a social media campaign from June 5 to June 9, 2023, that … through NHGRI's Inter-Society Coordinating Committee for Practitioner Education in Genomics . Follow on Twitter: …
Event
NHGRI and George Mason University's Institute for Digital InnovAtion co-host the Computational Genomics Conference, on Wednesday, April 28, 2021.
… NHGRI and George Mason University's Institute for Digital InnovAtion co-host the 2021 Computational Genomics Conference. Computational and data science … and genomic advances benefit all. This workshop features a series of speakers sharing their expertise through use …
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.
… Network American Medical Women's Association Association for Molecular Pathology Association of Professors of Human … Illumina Inheret, Inc. International Society of Nurses in Genetics (ISONG) JHMI Las Tunas Teaching General Hospital, … Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on …
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.
… Toolkit … NHGRI-Related Resources … Genomics is becoming an increasingly important part of … Genome Research Institute and its partners are organizing a social media campaign from June 6-10, 2022, that focuses on … Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on …
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.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… series, based on Mukherjee’s best-selling 2016 book, took a journey through key genetics discoveries that are some of … science centers. … Connect your lesson plans to the new PBS documentary with companion resources courtesy of pgEd … Life’s Code Do-It-Yourself Exhibit … pgEd Lesson Plans for the Classroom … Science, social history and personal …