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Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… at ASHG links (PDF) ENCODE at ASHG schedule (PDF) Carles Rotimi, Ph.D., NHGRI Debra Murray, Ph.D., Baylor College of … Staff Title Location November 1, 2023, 12:00 - 3:00 p.m Charles Rotimi Accelerating Genomics in Africa: Moving … sessions, industry partners and much more! Use the app to n etwork with other attendees and speakers with in-app …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
… about their functions, relationships and evolution,” said Charles Rotimi, Ph.D., director of the Intramural Research Program at …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… discovery for cancer and other diseases. Golub is also the Charles A. Dana Investigator in Human Cancer Genetics at the … Tucson. Prior to joining NHGRI, he was the Emanuel N. Maisel Professor of Oncology and Professor of Radiation …
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 …