Doctor of Philosophy, Weizmann Institute Of Science (2010)
Matthew Porteus, Postdoctoral Faculty Sponsor
Expanded CAG/CTG repeat tracts are the genetic basis for more than a dozen inherited neurological disorders including Huntingtons disease, myotonic dystrophy, and several spinocerebellar ataxias. Despite the multitude of pathologies underlying these disorders, they all share common etiology: the expansion of CAG/CTG repeats.
In collaboration with the Mittelman lab at Virginia Tech, we made engineered nucleases that target this common feature, expanded repeats, in human patient cells to induce repeat contractions. We have developed an innovative high-throughput sequencing assay based on the Pacific Bioscience technology for sequencing expanded repeats and will use this assay to measure the effectiveness of our approach.