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Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… WJ. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Inv Ophthal Vis Sci , 48:3905-13. 2007. [ PubMed ] Alur …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… PR, Fargo DC, Mullikin JC, Wade PA. DNA methylation in mice is influenced by genetics as well as sex and life …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… that supplementation of ManNAc to cell cultures or to mice with a dysfunctional GNE protein (as in GNE Myopathy) … Myopathy have shown a treatment effect of oral ManNAc in mice with  GNE Myopathy . NIH researchers are participating … 2-epimerase/ N -acetylmannosamine kinase knock-in mice from severe neonatal glomerular hematuria and …
News Release
Scientists drafted the blueprint for how to build a common goldfish. Now they'll use it to find out what gives ornamental goldfish their nuanced features, gaining insight into human health.
… 60 million years ago, a similar distance as between mice and humans. The common carp's DNA was already sequenced. …
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 , …