DNA photo
Children's Hospital Research Children's Hospital Labs
Program in Genomics Children's logo Harvard logo
Home
About the Program
Investigators & Labs
Interdisciplinary Projects
Atopic Dermatitis
Autism
Congenital Cardiovascular Disease
Congenital Myopathies
Developmental Dysplasia of the Hip (DDH)
Interstitial Cystitis
Muscular Dystrophy
Cores
Family & Patient Info
How to Help
Contact Us
X X
Muscular Dystrophy

The muscular dystrophies are a group of diseases that can be relatively mild, moderate, or severe, and can present early or later in life. The severe cases of muscular dystrophy may lead to death in early infancy while milder cases may cause significant muscle weakness that persists for life. These disorders can be inherited in different ways, including both X-linked and autosomally. As summarized by O'Brien and Kunkel (2001), neuromuscular disease research has significantly progressed since dystrophin was cloned. The functions of dystrophin and its associated protein complex (DAPC) are being elucidated. However, a delay in developing treatment has taken longer than expected. New advances have created the potential for several therapies which will be explored further, in hope that we will be better able to manage muscular dystrophies. Our research is dedicated to this goal.
Harvard Neuromuscular Disease Project
This project aims to study gene expression in normal and diseased muscle. The Program Director and Principal Investigators have a long and productive history defining the molecular genetics of human neuromuscular diseases. With their strong backgrounds and notable breakthroughs, they are collaborating on this project in anticipation that the research will result in a better understanding of the pathology of specific neuromuscular diseases and in new approaches to the treatment of the muscular dystrophies and myopathies.

Learn more about the Harvard Neuromuscular Disease Project.

Investigators
Louis M. Kunkel, PhD (Principal Investigator)

Robert H. Brown, Jr. MD, DPhil

Alan H. Beggs, PhD

Isaac Kohane, MD, PhD

Emanuela Gussoni, PhD Elizabeth C. Engle, MD

X X
Copyright 2004-2007 Children's Hospital Boston