Paloma Gonzalez-Perez, MD, PhD

Clinical Research Training Scholarship in Neuromuscular Disease

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy in adults. There is no reliable clinical or molecular biomarker that predicts the progression or severity of type 2 DM, or that can be used to monitor response to the therapeutic treatments that are in development.

This project hypothesizes that RNA that is released in urine serves as a molecular disease biomarker that can be used to diagnose type 2 DM and establish a correlation between the RNA profile and the progression and severity of type 2 DM.

This research is funded by the Muscle Study Group and the American Brain Foundation, in collaboration with the American Academy of Neurology. Dr. Gonzalez-Perez is an Instructor in Neurology at Massachusetts General Hospital.