Physician Investigator (Cl) Neurology, Mass General Research Institute

Associate Professor of Neurology Harvard Medical School

MD University of Washington School of Medicine 1995

alternative splicing; chloride channels; myotonic dystrophy; oligodeoxyribonucleotides antisense; rna; rna modulation therapies; trinucleotide repeat expansion Muscular dystrophies are inherited disorders that cause progressive muscle weakness.  There are many types of muscular dystrophies.  Current treatments can help improve some symptoms, but none can stop or reverse muscle weakness.  We use molecular biology and imaging to study muscular dystrophies with a long term goal of finding new treatments that benefit patients.  Together with collaborators, we helped identify and characterize a new class of drugs for treatment of myotonic dystrophy, the most common muscular dystrophy in adults.  Based on these findings, a similar drug is being tested in patients with myotonic dystrophy.  We continue to look for new treatments, study how muscles become weaker, and develop markers of treatment success.