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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.
… 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.
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 … improving gene therapy for NPC disease treatment in mouse models of NPC disease. They are testing various …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… a fellowship training at NINDS/NIH in Epilepsy and animal models through 2005. Since 2005-2018, she worked as an … and non-pharmacological interventions in animal models and NF1 patients using interspecies comparisons of … A, Gibson KM, Theodore WH. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency . J …
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 …
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.
…  Development and testing of innovative predictive models of the impact of genomic variation on genome function … catalog of variant impacts and including data, tools, and models that will be shared with the broader research … November 5, 2020  RFA-HG-20-047 : Developing Predictive Models of the Impact of Genomic Variation on Function (U01 …
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.
… also applying trans- and local-ancestry admixture mapping models to other cohorts of alloimmunization in sickle cell … between individuals and formulate plausible genetic models of disease. We then work with global and national …