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About NHGRI
NHGRI is advancing human health and spurring innovation by building bridges between our research laboratories and the academic, non-profit and private sectors.
… tissue microarrays for rapid molecular profiling, mouse models of inherited disorders and a diverse range of genes. … …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms or immune … by concurrent studies of immune function using animal models. By expanding the immune phenotype of patients with … virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. Gene Ther, 20:1188-1191 …
News Release
Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History.
… Raymond MacDougall … With eye-catching models, interactive displays and engaging elements, the …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… The Brennand laboratory integrates human stem cell models and genomic engineering, towards resolving the complex … München The Heinig lab is developing computational models for the design and analysis of single cell … with other IGVF teams to develop a biostatistical models for optimal experimental design and power analysis of …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… associated skin cancer risks, as well as provide animal models for future studies of drug intervention. Dr. Pavan’s … for treatment of NPC and assess these compounds in animal models with the goal of translating this information into … J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ. Murine model of Niemann-Pick C disease: Mutation in a …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… SR, Lipton JM, Bodine DM. Molecular convergence in ex vivo models of Diamond-Blackfan anemia. Blood,  129(23):3111-3120. … RE, Bodine DM. Improved retroviral gene transfer into murine and Rhesus peripheral blood or bone marrow …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther …
Educational Resources
Step-by-step instructions and printable folding paper included in the downloadable document.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency. BMC Genomics , 11(1): 194. …