In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2020:

“Reach DM- Study to Promote Trial Readiness by Genetic Analysis and Telemedicine Assessments”

PI: Johanna Hamel, MD
University of Rochester, New York, US

This project supports Dr. Johanna Hamel and Dr. Charles Thornton at the University of Rochester to study DM1-affected individuals to determine feasibility for remote genetic testing and disease assessments. This study focuses on 300 individuals who have a clinical diagnosis of DM1 in the MDF and National Registries. The goal of this study is to assess phenotype and genotype remotely and improve understanding of disease variability in DM1. By reversing the conventional directionality of research, which involves patients travelling to research centers, they evaluate people in their homes by sending them a toolkit and conducting virtual research visits via tele-video conferencing. By overcoming financial, geographic, and socioeconomic barriers, this study expands access to research and genetic testing.