Dept.: Professor of Medical Genetics, Psychiatry & Behavioral Sciences, and Adjunct Professor of Genome Sciences.
Neuroscience Focus Groups:
My research focuses on neurobehavioral and neurodegenerative disorders. In collaboration with Dr. Thomas Bird, a clinical neurogeneticist, we study neurologic diseases, including cerebellar ataxias, spastic paraparesis, myokymia, and choreas. To identify genes responsible for these disorders we perform exclusion mapping for known candidate genes, whole genome scans to identify a region of linkage, and candidate gene analyses. Several years ago we discovered that protein kinase Cg (PRKCG) that codes for a serine/threonine kinase is responsible for an autosomal dominant spinocerebellar ataxia, SCA14. We have generated PRKCG mutant and wild type BAC transgenic mice so that we can study the disease course and potentially investigate therapies, and to determine the functional effects of mutations. In addition, the mouse models may allow investigation of variable expressivity and genotype/phenotype correlations. We are also studying biochemical and cellular effects of the mutations in vitro.
Another area of interest is the genetic basis of dyslexia and related learning disabilities. In collaboration with colleagues in the College of Education, we ascertained children with reading and spelling impairment and then recruited their nuclear and extended families to characterize, model and map genes that contribute to dyslexia. The approach we have taken to unravel the genetic contributions to this complex disorder is to study quantitative endophenotypes based on performance on clinical assessment tests that evaluate reading, writing, and spelling ability, and executive function. We have identified several loci that may contain genes involved in the speed of reading single real or pseudo words in isolation. These endophenotypes are of particular interest because they relate to fluency of reading, which is a major impairment during schooling and often persists into adulthood.