Harvard Neuromuscular Disease Project
Our laboratory has had a longstanding interest in understanding the molecular and biochemical basis of common neuromuscular diseases and in the design of rational therapies for these diseases. The major focus has been on the muscular dystrophies, which are a heterogeneous group of genetic disorders. The most common form of muscular dystrophy is caused by abnormalities in the dystrophin protein, identified more than 20 years ago in this laboratory. Dystrophin has been shown to be part of a larger complex of muscle cell proteins, and many of these latter proteins are themselves altered to cause autosomal recessive and autosomal dominant forms of muscular dystrophy. The major aim of the laboratory is to understand the mechanism by which alteration in many different proteins results in a common mode of pathogenesis and then use this mechanistic understanding to design rational therapies.
The laboratory is currently studying several types of muscular dystrophy:
Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Facioscapulohumeral Muscular Dystrophy (FSHD)
Limb Girdle Muscular Dystrophy (LGMD)
Myotonic Muscular Dystrophy (MMD)