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News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the … syndrome, and symptoms of FMF include recurrent fevers, arthritis, rashes and inflammation of the tissues that line …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… rheumatology training at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… SN, Adeyemo A , Adebayo A, Achara P, Alabi B, Bakare RA, Famooto AO, Obende K, Offiong R, Olaniyan O, Ologun S, … Susceptibility to Scleroderma in African Americans. Arthritis Rheumatol . 70(10):1654-1660. 2018. [ PubMed ] … Gu W. Identifying a major locus that regulates spontaneous arthritis in IL-1ra-deficient mice and analysis of potential …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… A Benkahla, SK Kassim, N Mulder, SN Adebamowo, ER Chimusa, RA Gibbs, D Muzny46, G Metcalf, TrypanoGEN Research Group‡, C … DR Parekh, WJ Franklin, DJ Penny, CD Fraser, JR Lupski, RA Gibbs, E Boerwinkle, JW Belmont. Whole Exome Sequencing in … S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Genetic architecture …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… TJ, *Bell DW, *Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska … *Kwak EL, *Sordella R, *Bell DW, *Godin-Heymann N, Okimoto RA, Brannigan BW, Harris PL, Driscoll DR, Fidias P, Lynch T, … * Equal authorship. [ PubMed ] Bell DW, Gore I, Okimoto RA, Godin-Heymann N, Sordella R, Mulloy R, Sharma SV, …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… Y, Salat J, Li S, Elkahloun AG, Yang Y, Neilly MB, Larson RA, Le Beau MM, Herold T, Bohlander SK, Liu PP, Zhang J, Li … SA, Khan J, Ben-Dor S, Niv MY, Ulitsky I, Mann GJ, Scolyer RA, Hayward NK, Samuels Y. Recurrent inactivating RASA2 … Li S, Weng H, Huang H, Neilly MB, Wang S, Olson EN, Larson RA, Le Beau MM, Zhang J, Jiang X, Wei M, Jin J, Liu PP, Chen …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… Jun 25 [updated 2022 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Goldbach-Mansky, M.D., M.H.S., National Institute of Arthritis and Musculoskeletal and Skin Diseases , will use …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… caused by a myeloid-restricted somatic NLRP3 mutation . Arthritis Rheumatol . 2015;67(9):2482-6. Zhou Q, Yang D, …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… to other common diseases such as diabetes, heart failure, arthritis, liver disease, impotence and depression. If …