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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
Health
Resources about genetic diseases and the importance of knowing your family health history.
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… PB5035 Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All of Us” … HPS-1 pulmonary fibrosis PB2027 Zo Bly The landscape of clinical sequencing in diverse populations: lessons learned …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… infographic that offers an introduction to the basics of genetics and genomics and how the science impacts our lives. … Analyst, Office of the Director Jean Jenkins, Ph.D., Clinical Advisor, Division of Policy, Communications and … … Genomics Education, Health Disparities, Genomics 101, Clinical Trials In Genomics … The partnership engages …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… DADA2 just two years after six NIH institutes and the NIH Clinical Center , and a group in Israel, independently …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… advances. … Genomic Medicine, Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of … physicians have been unable to diagnose despite extensive clinical investigation. These diseases are difficult for … go through the Gateway, rather than through individual clinical sites in the network. The Gateway replaces what had …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… run in families. It is important to keep in mind that genetics are just one piece of the puzzle. Environmental …
For Patients and Families
Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.
… called selective serotonin re-uptake inhibitors (SSRIs). Clinical trials are now underway to learn whether genetic …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
… treatments when we have a certain disease. In addition to clinical practice use, family health history has become an … facilitate translation and implementation of genomics in clinical and public health programs. Our users have become …