Federal Project Grant Award Summary

The National Institute of Arthritis and Musculoskeletal and Skin Diseases awarded a Project Grant of $166,396 to the University of Rochester (awarded May 1, 2026; completion April 30, 2031) under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846). This grant funds research investigating the molecular drivers of repeat instability in Myotonic Dystrophy Type 1 (DM1), a progressive neuromuscular disorder caused by expanded CTG repeats in the DMPK gene. The project will deliver scientific research outputs including mechanistic insights into germline and somatic repeat instability through utilization of a novel CRISPR-Cas9 knock-in mouse model containing 400-5000 CTG repeats and long-read sequencing technologies. Research products will include peer-reviewed publications and molecular data elucidating how parental sex, age, and methylation patterns influence disease onset, as well as investigation of r-loop formation as a potential driver of somatic expansion across multiple tissues.

The project serves dual purposes as both a research initiative and a workforce development platform. Under the mentorship of Dr. Charles Thornton, a recognized expert in DM1 research, the award will generate career development through formal and informal training in animal models of neuromuscular disease, long-read sequencing, molecular genetics, and bioinformatics. The research outputs are intended to inform therapeutic strategies targeting repeat stabilization and provide critical mechanistic understanding of DM1 pathogenesis, contributing to the broader goals of the NIAMS program to advance understanding of musculoskeletal and neuromuscular disease treatment and prevention.