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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… history information to assess which conditions with a genetic component pose a risk to your health and require … because its development depends strongly on a person’s genetic predisposition, combined with their environment and …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … 2 diabetes; however, it remains unknown exactly how these genetic changes, known as variants, are distributed among …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… countries address their public health challenges in genetic diseases. This will ultimately help build healthier … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… included a new name: the Talking Glossary of Genomic and Genetic Terms . First launched in 1998, the talking glossary … . To date, the new Talking Glossary of Genomic and Genetic Terms has 222 terms, of which 142 have new … coming months. The NHGRI Talking Glossary of Genomic and Genetic Terms is only one of a collection of remote-learning …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… University temporarily halts admissions. … The NIH-funded Genetic Counseling Training Program , a master’s degree … NIH to conduct strategic planning and reshape training of genetic counselors across the career spectrum. Currently … program will finish in December 2026. “The NIH-funded Genetic Counseling Training Program has been wildly …