Methods of treating trinucleotide repeat expansion diseases

Dr. Christopher Pearson is a Senior Scientist at SickKids with over 25 years of research in molecular genetics. The Pearson lab works on rare conditions that are caused by unnatural slips and loops in the DNA, such as Huntington’s disease, ALS, and 40+ other neurodegenerative diseases. In affected patients, these loops expand in size as the patient ages and eventually this results in the onset of disease. The Pearson lab has discovered a small molecule that binds selectively to the loop preventing size increase, forming the basis for a therapeutic platform. In the lab, the research team was able to successfully reduce the repeat expansions in the brain of a Huntington’s disease mouse model, as well as in cells extracted from tissues of individuals affected by Huntington’s disease with no off-target effects.