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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
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 … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… and their definitions . … Related Resources … 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 … GMWG, please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A …
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.
… GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 … 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, …
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… for public health initiatives that focus on Tier 1 genomic applications/conditions. How does this impact the … of NHGRI’s mission is to facilitate the implementation of genomic medicine for the purposes of evidence generation and … and resources that can be relevant across a wide range of healthcare settings and resources, including low-resource …
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.
… decisions, as well as support from practitioners and the healthcare system to consider these therapies.” —Vence L. … disease gene therapy education project Talking Glossary of Genomic and Genetic Terms: Sickle Cell Disease Sickle Cell …
Event
On Tuesday, February 6, 2024, the National Human Genome Research Institute hosted an eConsult webinar to provide an overview of three notice of funding opportunities (RFA-HG-24-001, PAR-24-106 and PAR-24-107). Questions were answered during the webinar.
… conferencing. What is the definition of unaffiliated healthcare organizations? Unaffiliated healthcare … the applicant address significant barriers to implementing genomic eConsults in a variety of settings?” For example, … requests from the full breadth of specialties that utilize genomic medicine. We would expect that a service would …
FAQ
Questions and answers to help applicants responding to the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding opportunities (NOFOs): RFA-HG-24-004 and RFA-HG-24-005.
… help applicants responding to the ML/AI Tools to Advance Genomic Translational Research (MAGen) notice of funding … relate to how individuals manifest disease and identify genomic and non-genomic factors that affect their penetrance. Are M/AI …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… to understand what happens at each step. Talk with your healthcare team before, during and after each step. … … … about: Phases of the treatment. Treatment outcome(s). How healthcare providers will know if the treatment worked. … … the informed consent document . Discuss it with your healthcare team and support system. Ask questions. If you …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… want to join this clinical trial. Discuss it with your healthcare provider(s) and your support system. … … … Reflect … me on this journey? How much can you support me with my healthcare activities (such as taking medicines and getting … long-term and possibly in a different city to be near your healthcare providers? Focus on caring for your emotions. …