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News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… population but also people all around the globe,” said Dr. Charles Rotimi, senior author of the paper. “The biology then becomes …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Dis , 15(3):196-205. 2009. [ PubMed ] Carrillo-Carrasco N., Sloan J., Valle D., Hamosh A. and Venditti C.P. … of Washington, Seattle, 1997-2010. [ PubMed ] Hauser N.S., Manoli, I., Graf J.C., Sloan J., and Venditti C.P. … by David Adams, M.D., Ph.D. and study clinical director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… Y. Hu, Y. Zou, M. Yang, L. Medne, M. Leach, L.K. Conlin, N. Spinner, T. H. Shaikh, M. Falk, A. M. Neumeyer, L. Bliss, … in FHL1.. Brain , 132:452-64. 2009. [ PubMed ] J. Schessl, N.M. Goemans, A.M.I Magold, Y. Zou, Y. Hu, J. Kirschner, R. … 2009. [ PubMed ] A. Ferreiro, C. Ceuterick - de Groote, N. J. Marks, Goemans, G., Schreiber, F., Hanefeld, J., J. …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… [ PubMed ] Adeyemo AA, Prewitt TE, Luke A, Omotade OO, Rotimi CN, Brieger WR, Cooper RS. The feasibility of … Luke A, Cooper R, Wu X, Tayo B, Zhu X, Rotimi C, Bouzekri N, Ward R. A genome-wide scan for body mass index among … Genomics, 13(2):72-9. 2009. [PubMed] Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… Ancestry in Medicine - A Time for Reckoning with Racism. N Engl J Med. 2021;384(5):474-480. doi:10.1056/NEJMms2029562 … Social Determinants of Health Collections . PhenX. Charles N. Rotimi, Ph.D., and Lynn B. Jorde, Ph.D. Ancestry and Disease …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… about the study. … ManNAc is an abbreviation for N-acetyl-D-mannosamine. ManNAc is an uncharged sugar and an … Day Symposium 2015 Presenter: Nuria Carrillo, M.D., NIH. N-acetylmannosamine (ManNAc) or Sialic Acid as Therapy for … Ph.D., NHGRI, NIH. Scientific Publications 2021 Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… 2019. 2018 Davidson BA, Hassan S, Garcia EJ, Tayebi N, Sidransky E. Exploring genetic modifiers of Gaucher … Metzger R, Naperova IA, Bukina TM, Goker-Alpan O, Tayebi N, Gayfullin NM, Schwartz DE, Samokhodskaya LM, Kost OA, … . In PRESS Hassan S, Lopez G, Stubblefield BK, Tayebi N, Sidransky E. Alleles with more than one mutation can …
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).
… … NHGRI postdoctoral fellow Marlena Fisher, Ph.D., R.N., is among the recipients of the 2025 Coleman Research … M.D. Journeys in Human Genetics and Genomics Colloquium — Charles Rotimi, Ph.D. Genomics for an Interplanetary Future — Kate …
Timeline
A timeline highlighting key moments in the development of eugenics, with a focus on the American eugenics movement.
… an incorrect and prejudiced understanding of the work of Charles Darwin and Gregor Mendel to support the idea of …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… in NHGRI and other NIH intramural research projects,” said Charles Rotimi, Ph.D., NHGRI’s scientific director. “Dr. Thomas’ …