«Until now, we thought that Huntington's disease was exclusively the result of a genetic mutation within cells, an intrinsic phenomenon that gradually led to the manifestation of the illness,» explains Francesca Cicchetti, professor at the Université Laval Faculty of Medicine, researcher at the CHU de Québec Research Center, and lead author of the study. (sciencedaily.com)
Fragile X syndrome is the result of genetic mutations that eliminate a protein called fragile X mental retardation protein. (sciencedaily.com)
We use state - of - the - art imaging tools, including advanced confocal and elctron microscopy, to study the pathophysiology of hearing impairment as a result of genetic mutations. (kbalab.com)