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News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision Medicine Research Into Practice * Dr. David R. Williams , Florence Sprague Norman and Laura Smart Norman …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… NA, Wilmayani NK, City B, Wei WQ, Wiesner GL, Rahm AK, Williams JL, Williams MS, Peterson JF. Prospective, multi-site study of …
The Genomics Landscape
In the June 2024 issue of The Genomics Landscape, NHGRI Director Eric Green recognizes the 2023 recipients of the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… African- ancestry specific-variants for metabolic syndrome. Mol Genet Metab, 2015 Oct 23 (epub ahead of print). … G, Franceschini N, Heinrich J, Rotter JI, Wijmenga C, Williams OD, Bentley AR, Hofman A, Laurie CC, Lumley T, …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… doi:10.1038/s41467-019-09373-w. 2019. [ PubMed ] Kim J, Williams FJ, Dreger DL, Plassais J, Davis BW, Parker HG, … MAR. Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr I, Ours … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
File
… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… medical history is consistent with an autoinflammatory syndrome, or if there are other studies that may be more … Fever (FMF) TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) … VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory Syndrome) Haploinsufficiency of A20 (HA20) Sideroblastic …