Search Results
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Ph.D. 2:00 - 2:30 p.m. Treatment of CBS Deficient Mice by AAV-Mediated Gene Therapy Warren Kruger, Ph.D. 2:30 - …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… such β-cell death, the researchers took β-cell cells from mice and performed a similar knockdown of the ZRANB3 gene as …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… of the disease by breeding laboratory animals, such as mice, and attempting to duplicate the clinical features of …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Schizophrenia risk gene linked to cognitive deficits in mice Scientists unveil search-and-replace genome editing …
Outreach
A list of high quality educational activities to engage students on DNA Day.
… or explore rapid evolutionary change through "rock pocket mice." Resources also discuss artificial vs. natural … relate to society. These topics include: "Transgenetic Mice", "Genetically Modified Foods", "Pharming for …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… gene therapy to successfully treat GM1 gangliosidosis in mice and cats, it gave Dr. Tifft and her team enough hope to …
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 …
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 …