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- 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
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, … for researchers to diagnose the specific inflammatory disease in a given patient.  Your browser does not support … will help healthcare professionals improve disease assessments and provide appropriate treatments for thousands …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in … When the first patient came to our clinic, we found their disease-causing genomic variant and looked for other patients … face. We have a mouse model that recapitulates the human disease, and we are in the process of running a clinical …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… research to enable a greater understanding of human disease and to develop better methods to detect, prevent and … of the NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. He has designed and led major basic … and has greatly expanded genomics-based studies of human disease on the African continent. My vision for the NHGRI …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… network is to better understand the genomic basis of disease and to tailor medical care to individual patients … to examine rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. The funds, awarded to … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on … , once available. …  Recently, the International Common Disease Alliance (ICDA) released their recommendations and …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and phenotypes, gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… director, Anthony Fauci, M.D. Jeanne is an infectious disease expert, joining NIH from the University of Alabama at … the best,  … Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer Mukamel et al. … results in differences in traits, including the risk for disease. Some genomic variants are small, like changes to …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… why receiving information about their children's genomic risk of obesity led some mothers to make healthier choices. … the strongest messages about their children's genomic risk for obesity were less subject to a type of nonconscious … obesity. A child with overweight parents has an increased risk of growing into an obese adult. Inheritance clearly …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… years, scientists have created hundreds of polygenic risk scores (PRSs), which are genetic tests that can be used … that have been shown to be associated with a particular disease. This involves analyzing genomic data from thousands … Since genomics accounts for only part of a person’s disease risk, the PRIMED Consortium is also investigating the …