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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
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has … first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in … in the discovery of the gene responsible for the disease, the development of a mouse model, and the …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… The genomic landscape of African populations in health and disease. Hum Mol Genet. 2017 Oct 1;26(R2): R225-R236. doi: … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1; 5(3):75-80. … et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007 Jun; 39(6):770-5. …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… Center. Inflammation is the body's response to injury, disease, or irritation of the tissues. Dr. Kastner and his …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… traits (e.g., traits related to cardiovascular disease and scoliosis), the coding and non-coding elements … (e.g., traits related to hypertension and cardiovascular disease, depression and alcoholism, familial idiopathic … gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease. Proc Natl Acad Sci USA, 110(20):8134-8139. 2013. [ …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… (TRAPS) and neonatal-onset multisystem inflammatory disease (NOMID). Patients with TRAPS suffer from recurrent …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … Cyndi Tifft opened a bag and … of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… as well as mapping genetic variants that influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. … Ramos, E., Chen, G., and Rotimi, C. N. 2011. Mapping of disease-associated variants in admixed populations. Genome …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… including factors influencing human history and health, disease susceptibility, and common principles of biology. … … our goals requires innovative and, at times, high-risk strategies that utilize a wide range of genomic, … important hallmark of our program is the inclusion of high-risk, imaginative, and potentially high-impact projects in …
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 …