Alan H. Beggs, PhD
The Manton Center's director, Alan H. Beggs, PhD, is an authority on the genetic underpinnings of congenital myopathies, a group of little-understood, inherited neuromuscular disorders that cause generalized muscle weakness and progressively disabling symptoms.
Myopathies typically arise from mutations in the genes necessary for normal muscle structure and function. Using patients' DNA and muscle tissue samples, Dr. Beggs and his colleagues have identified genes and proteins associated with a number of these disorders, including centronuclear myopathy and nemaline myopathy, thereby improving diagnosis and clinical evaluation for children suffering from these rare and difficult disorders.
Identification of specific mutations provides a foundation for prenatal diagnosis. It may also offer affected families the tools to make informed decisions about family planning. And it lays the necessary groundwork for future development of specific therapies and treatments.
Over the next few years, Dr. Beggs and colleagues will carefully delineate the biochemical and physiologic function of the genes known to be associated with congenital myopathies. They will increase scientists' understanding of muscle biology by creating cell and animal models to test promising theories. And they will work to identify drugs capable of interrupting the cellular processes that lead to neuromuscular failures.
Now an Associate Professor of Pediatrics, Dr. Beggs is internationally recognized as an expert in the genetics of congenital myopathies, most notably for his work identifying numerous genes for different forms of congenital myopathy and other genetic disorders of childhood. More recently he has also elucidated some of the genetic causes of Diamond-Blackfan anemia. Since September of 2008, Dr. Beggs has become the Director of The Manton Center for Orphan Disease Research, which is based in our Division, and he was recently named the Sir Edwin and Lady Manton Associate Professor of Pediatrics in the field of Genetics.
The Beggs' Laboratory
Beggs' NIH BioSketch
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