Search Results
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… K., Farrington S., Lin S.Y., Nissen R.M., and Hopkins N. Insertional mutagenesis in zebrafish rapidly identifies … Stroke and Vasculopathy Associated with Mutations in ADA2. N Engl J Med, 370(10):911-20. 2013. [ PubMed ] Liang J, Wang … D, Huang H, Pei W, Yang Z, Huang SC, Schoenfeld DS, Pho N, Casero D, Hirase T, Mosbrook-Davis DM, Zhang S, Jao LE, …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… or blood type. March 16, 2018: Rep. Louise M. Slaughter (D-N.Y.), lead author of the Genetic Information … to include developmental tissues . October 7, 2021: Charles Rotimi selected as next scientific director . October 12, …
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
… Fuller, Ph.D. Associate Professor of Biology Stella and Charles Guttman Community College City University of New York …
File
… A , Mutesa L , Moresco A , Obregon MG , Sokunbi OJ , Kalu N , Joseph DA , Ikebudu D , Ugwu CE , Okoromah CAN , Addissie YA , Pardo KL , Brough JJ , Lee N -C, Girisha KM , Patil SJ , Ng ISL , Min BCW , Jamuar SS , … (NIH and Other Institutions) : NIH: 1. Adeoye AM , Rotimi CN and Adeyemo AA. Pharmacogenomics of …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, M.D., Ph.D. 10:30 - 11:00 a.m. Liver … Residency and Fellowship Programs, NHGRI Panelists: Charles P. Venditti, Jerry Vockley, Gerard Berry, Stephanie … HCU, diagnostic and therapeutic challenges  Moderator: Charles Venditti, M.D., Ph.D., Senior Investigator, NHGRI …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… disorder. Since coming to the NIH and joining Dr. Charles Venditti’s OAR Section, Dr. Chandler’s research has … the Society for Inherited Metabolic Disorders in 2007, the Charles J. Epstein Trainee Research Award from the American … BT, Schneller JL, Hoffmann V, Gordo S, Zang S, Ko CW, Chau N, Chiang K, Kay MA, Barzel A, Venditti CP. Promoterless, …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… Bioinformatics , 26 (9), 1205–1210. [ PubMed ] Kho, A.N., Pacheco, J.A., Peissig, P.L., Rasmussen, L., Newton, K.M., Weston, N., … Denny, J.C. (2011). Electronic medical records for … ] Xu, H., Aldrich, M. C., Chen, Q., Liu, H., Peterson, N. B., Dai, Q., … Denny, J. C. (2015). Validating drug …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Genetics and Genetic Epidemiology) 1693W. Barbara N. Pusey: SNP-Chip Sibling Ranker: Using SNPChip Data to …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the … CI , Forbes MS, Thornhill BA, Antignac C, Gubler MC, Nevo N, et al. The swan-neck lesion: proximal tubular adaptation …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… Investigator: Monte Westerfield, Ph.D. Boston University (Charles River Campus), Boston: $441,990 Principal …