Search Results

1 - 8 of 8
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… method for correcting the single faulty gene that causes niemann-pick disease , type c1 (npc1). the gene therapy involved inserting …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease . his primary areas of interest include the … skin and hair, as well as the lysosomal storage disorder niemann-pick disease , type c. by integration of basic science …
Staff
Dr. Stacie Loftus is a staff scientist in the Genomics, Development and Disease Section of NHGRI's Genetic Disease Research Branch.
… the gene responsible for the neurodegenerative disorder niemann-pick disease , type c (npc). nchgr is now the national human …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… genes related to a variety of conditions, including heart disease , breast cancer, and hearing loss. … our goal is to … incidence of unrecognized visceral/neurological late-onset niemann-pick disease , type c1, predicted by analysis of massively …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… technologies. … assay for predicting the time of onset of niemann-pick disease type c (npc) dhhs reference no.: e-060-2013 u.s. …
News Release
Principal investigator-mentors guide new scientists to their next chapter.
… he investigated ways to track the severity and onset of niemann pick type c disease (npc), a rare lysosomal storage disorder that can …
File
… Outline Genome Sequencing Program Centers for Common Disease Genomics Centers for Mendelian Genomics GSP Analysis … AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease , type C1 Extracellular Hsp60 triggers tissue …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… screen to diagnose rare genetic disorders and unravel disease mechanisms. (clinical genetic testing) 2187t. … 2334f. katherine chao: novel npc variants causing severe niemann pick c deficiency. (metabolic disorders) other sessions …