Pearson Lab

The Pearson Lab studies the molecular mechanisms involved in genetic mutations in trinucleotide repeat sequences. Instability (i.e., expansions) of trinucleotide repeats are responsible for numerous neurological, neurodegenerative, and neuromuscular disorders including myotonic dystrophy (the most common form of muscular dystrophy), Huntington's disease and fragile X syndrome (the most common form of inherited mental retardation). Our research focus is identifying cis-elements and trans-factors as well as cellular mechanisms (i.e., DNA repair, DNA replication, and epigenetics) that are involved in disease-associated repeat instability. We use molecular, cellular and chromosomal systems including primate models, patient cells and tissues and transgenic mice in our studies.