Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
On May 19-20, 2016, the National Human Genome Research Institute (NHGRI) hosted a two-day workshop where participants were asked to weigh the benefits and risks of sharing aggregate genomic data with secondary users.
Event
On October 25-29, 2022, 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.
… 8:00 p.m. Mendelian Phenotypes Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal … of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd … in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley Convention …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… for determining causal variants underlying Mendelian disease. Although WES and WGS have proven to be … conditions and to increase the solve rate for rare disease. The National Human Genome Research Institute (NHGRI) …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… likes to address scientific questions and think about new disease models from a genetics perspective. Julie received …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 9. Danielle M. Karyadi: Whole exome sequencing in 75 high-risk families identifies eight previously unknown prostate … screen to diagnose rare genetic disorders and unravel disease mechanisms. (Clinical Genetic Testing) 2187T. … associated with parkinsonism in patients with Gaucher disease and GBA1 mutation carriers. (Metabolic Disorders) …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… This is what researchers are testing out for Sickle Cell Disease. The team received two questions from Congresswoman … provide affordable options for patients with genetic disease. Many folks had questions about the misunderstandings … - to use CRISPR to impact the course of any particular disease, we'd need to have a really strong understanding of …
News Release
Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History.
… DNA interactive, search for the right medicine for a given disease. An interactive puzzle allows visitors to learn how genetic, environmental and random factors influence risk for a particular disease.  Connections: Natural World and Genomic Journey: …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held its ninth in-person meeting on February 25, 2020, in Bethesda, Maryland.
… of Lublin, Lublin, Poland Ridgely Fisk Green* Centers for Disease Control and Prevention Anne Greb Lead, Medical … Medical Colleges Charles Huang* Fellow Undiagnosed Disease Network, NHGRI Rachel Huddard* PharmGKB Belen Hurle … Branch, NHGRI Karen Hurley Psychologist, Hereditary Cancer Risk Cleveland Clinic Anastasia Jacko* University of …
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.
News Release
NIH will hold a Reddit "Ask Me Anything" with members of its NHGRI Ethical, Legal and Social Implications Research Program.