Mining Big Data in NeuroGenetics to Understand Muscular Dystrophy
Oct 9, 2017 909 views 
The recent advances in genome sequencing and analyses of the billions of base pairs in genomic data have been a boon for moving forward our understanding of human disease. In this talk I will describe how genome sequencing has dramatically improved our understanding of the most common adult form of muscular dystrophy, which is myotonic dystrophy. Two different genetic mutations cause thousands of changes in the cells and tissues of myotonic dystrophy patients. Genome sequencing has allowed us to precisely determine the degree of changes across patients, correlate these changes to disease symptoms and allow us to determine quickly in cell and animal models the effectiveness of therapeutic strategies for myotonic dystrophy.