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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
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare … from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
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 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 …
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 …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Early in my career, I was involved in breast cancer risk modeling that led to Mary-Claire King discovering the … that, if you accounted for smoking and known environmental risk factors, there was still increased familial risk, which … of the risk factors for eye diseases, inflammatory bowel disease and cleft lip and palate.  In conversation with …