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News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… Their findings suggest that dogs could serve as in vivo models for developing therapies for many human cancers, …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… and brain and placenta tissue from four different mouse models of Down syndrome, the Ts65Dn, the Ts1Cje, Dp(16)1Yey … effects of maternal diet during pregnancy on the murine fetal brain transcriptome and offspring behavior . … Siegel AE, Tantravahi U, Bianchi DW. An Integrated Human/Murine Transcriptome and Pathway Approach To Identify …
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.
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 …
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 …
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 …