Human Gene Discovery

Unlike traditional “bench to bedside” programs, the Center for Neurogenetics also emphasizes the identification of mutation causing novel single-gene disorders by combing new high-throughput sequencing technologies with often ignored and under-utilized family resources.  Center researchers have already samples collected from over 450 families and have contacts with other facilities and researcher to access more ataxia and myotonic dystrophy samples when required.  To complement the extensive family and patient resources, research also utilize a forward genetic approach, utilizing the laboratory identified genes that interact with disorder genes, to identify novel mutations.