Harvard Neuromuscular Disease Project
Overview
Gene Expression in Normal and Diseased Muscle During Development
Thank you for your interest in our research. This section contains a brief overview of the research we are conducting for the Harvard Neuromuscular Disease Project. For a more detailed explanation of the projects involved in this research endeavor, please click on the project links below or to the left.
The last decade has witnessed remarkable progress in finding the causes of inherited muscle disorders. There are numerous genetic muscle diseases, all which may affect each individual differently. More than 40 different genes have been identified that contain the instructions for normal muscle development and structure. A mutation or error in any one of these genes may result in a muscular disease.
Researchers are actively studying these genes and mutations in them. However, there are many important questions researchers still have not answered regarding the pathogenesis of muscle cell degeneration (break down) in these diseases and strategies for their treatment.
The Harvard Neuromuscular Disease Project is a collaborative effort to use classical methods of gene and protein analysis, as well as state-of-the-art gene expression array technology to study the unanswered questions. Four projects with unique features, but overlapping concepts and methodologies comprise the Neuromuscular Disease Project. The aim of the Project is to identify patterns of gene expression that are global in all dystrophies or distinct to specific sets of dystrophies and myopathies. Ultimately, this will provide insight into the molecular basis of normal muscle development and its dysfunction in these disease states. Long-term, our hope is to use this information in conjunction with the insights from studies of stem cell biology to devise new approaches to the treatment of the muscular dystrophies and related myopathies.
- Project 1: Gene expression and biochemical studies of filamin/sarcoglycan-related dystrophies.
- Project 2: Gene expression and biochemical studies of dysferlin-related dystrophies.
- Project 3: Gene expression and biochemical analysis of muscle development in myotubular myopathy.
- Project 4: Gene expression in, and therapeutic application of, muscle stem cells.
Our Research Goals
The common fundamental goals of the projects are to characterize and understand normal and abnormal patterns of gene expression in developing muscle from the stem cell state through to maturity. Further, we aim to understand the molecular consequences of specific genetic defects and to identify appropriate targets for therapeutic intervention.
Based on these fundamental goals, there are three complementary approaches to our research:
1. To enroll patients with specific neuromuscular disorders in our research
2. To identify new muscle-specific genes and proteins through biochemical and molecular analysis
3. To research gene expression using microarray technology
