DNA Hydroxymethylation in Non-coding Repeat Expansion Disorders

My research is focused on the repeat expansion disorders, a family of disorders that result from the repetitive microsatellite sequence within the gene. In particular, this thesis investigates two non-coding repeat expansion disorders: C9orf72-associated Amyotrophic Lateral Sclerosis (C9-ALS) and the Fragile X Syndrome (FXS). Our group was the first to report the presence of 5-hydroxymethylcytosine, a novel epigenetic mark and active DNA demethylation intermediate, at the expanded loci of patients with C9-ALS and FXS.