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Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… could double the lifespan of Sandhoff disease mice, not by decreasing the storage of GM2 ganglioside, but …
File
… 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 …
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 May 2024.
… Influence Mitochondrial Heteroplasmy Levels in Mice" 39 ‘One-Stop-Shop’ to Stay Connected … May 2024 … …
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 , …
File
… functional elements in more physiological systems (e.g., transgenic animals). • Both human and mouse candidate …
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, …