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… Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1 Extracellular Hsp60 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… J. et al. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… then adds, "How many times have we cured cancer in mice? Thousands." But Sena-Esteves said his confidence level …
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… functional elements in more physiological systems (e.g., transgenic animals). • Both human and mouse candidate …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course. Mol Genet Metab , …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2023.
… of Leukemia Progression in the Cbfb-MYH11 Knockin Mice by Single Cell RNA Sequencing" Turriff et al. – …
Archive
… Transgenic Animals Produced Using Cultured Sperm … Archive …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… interleukin-1b activation and severe autoinflammation in mice. Immunity,  34;755-768. 2011. [ PubMed ] Ombrello MJ, …
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… predicting enhancer elements and testing their activity in transgenic mouse enhancer assays and high throughput reporter … KOMP2 https://commonfund.ni h.gov/KOMP2/ NIH Common Fund Mice Phenotypic Data collection for standardized phenotyping …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… discordant for Parkinsonism Pavan - NPC1 deficiency in mice is associated with fetal growth restriction, neonatal …