Quantifying protective somatic variant repeats in Huntington disease and myotonic dystrophy type 1

University of Glasgow

Past award

Student: Giulia Manigrasso : University of Glasgow

Year Award Started: 2018

Recently, we determined that some patients with myotonic dystrophy and Huntington disease inherited unusual mutations that slow down the progression of the disease. We hypothesize that such mutations will be also be present in a subset of the cells of other more typical patients. In this project we aim to quantify the number of such unusual mutations using a computer-based analysis of DNA data. The ultimate goal is to identify the genetic factors that determine the severity of the symptoms. This knowledge will be used to improve the accuracy of diagnosis and reveal novel ways of treating these diseases.

Research area: Neurological conditions (including stroke)


Professor Darren Monckton
Institute of Molecular Cell and Systems Biology