Our research aims to understand the structures and function of proteins
that make up skeletal muscle fibers, and to use this information to
develop methods to diagnose and treat neuromuscular diseases in
Our laboratory is taking several complementary approaches to meet these
goals. The first involves identification and characterization of new
skeletal muscle genes and proteins that we think are important for
normal muscle function. The second is to examine these genes for
mutations that may cause human neuromuscular disease, and to study how
these mutations lead to weakness in affected individuals. Finally, by
correlating our basic muscle biology findings with our studies on DNA
and muscle tissue of affected individuals, we are able to design and
test more effective therapies for these diseases.
Specifically, we are looking into the genetic causes of the congenital myopathies,
a group of related disorders of muscle weakness caused by defective
genes and proteins in skeletal muscle. Over the past few years, we have
identified gene mutations affecting a series of muscle contractile
proteins shown to cause nemaline myopathy,
a disease characterized by muscle weakness, respiratory problems and
the presence of "nemaline rods" (abnormal rod-shaped structures) in
Our current projects include the identification of new nemaline
myopathy genes, understanding the basis of the variability of patients'
symptoms and the determination of how these mutations affect muscle
function and lead to weakness.
Click image to learn more about nemaline myopathy.
More recently, we have used gene expression studies (microarrays), cell
culture experiments, and mouse models to characterize the defective
components of muscle fibers in children with multiminicore myopathy.
Based on these studies, we are now working to develop therapies that
target the underlying defect responsible for muscle weakness. Related
projects focus on other congenital myopathies, including: congenital fiber type disproportion (CFTD), myotubular myopathy, and centronuclear myopathy, as well as congenital myopathies with nonspecific muscle findings.
A cytochrome oxidase stained section of muscle from a patient with
multiminicore myopathy. Note the patchy white areas, called minicores.
To read more about our work, visit our lab web site.
About Alan Beggs
Alan Beggs is director of The Manton Center for Orphan Disease Research
at Children's Hospital Boston and the Sir Edward and Lady Manton
Professor of Pediatrics at Harvard Medical School. He received his AB in
biology at Cornell University and his PhD in human genetics at Johns
Hopkins University. He then completed postdoctoral fellowships in
medical genetics at Johns Hopkins University and in clinical molecular
genetics at Harvard Medical School, and has directed an independent
research laboratory in the Genetics Division at Children's Hospital