Thank you for visiting! This site is intended to provide information for families, physicians, genetic counselors, and researchers who are interested in learning more about our research on the genetics of the congenital myopathies. Located in the Enders Building of Boston Children's Hospital and affiliated with Harvard Medical School, our research aims to understand the structures and function of the proteins that make up skeletal muscle fibers.
We are taking two approaches to reach our research goals. The first involves identification and characterization of new skeletal muscle genes and proteins. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, how they are inherited in families, and understand how they lead to weakness in affected individuals. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals.
Over the past few years, gene mutations affecting a series of muscle proteins have been shown to cause nemaline myopathy, a disease that is characterized by muscle weakness, respiratory problems and the presence of "nemaline rods" (abnormal rod-shaped structures) in skeletal muscle biopsies. Current studies are aimed at identification of new nemaline myopathy genes, understanding the basis for the variability observed in these patients, and determining how these mutations affect muscle function and lead to weakness.
We are also looking into the genetic cause(s) of other "congenital myopathies", in particular myotubular myopathy, a disorder that causes muscle weakness and low muscle tone. Gene expression studies (microarrays) on myotubular myopathy will help us better understand the apparent developmental block of muscle maturation in patients with this disease. Similar projects aim to study other congenital myopathies, including: congenital fiber type disproportion (CFTD), multiminicore disease, as well as congenital myopathies with non-specific muscle findings.