Beggs Laboratory

 

Dr. Alan Beggs is the Director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, as well as a professor of pediatrics at Harvard Medical School. Dr. Beggs is internationally recognized as an expert in the genetics of congenital myopathies, most notably for his work in identifying numerous genes for centronuclear and myotubular myopathies, among other childhood genetic disorders. His current research is focused on utilizing genetic approaches in human patients and animal models to understand the pathophysiology of these disorders and to develop Treatments.

 

Casie Genetti_PhotoCasie Genetti is a certified genetic counselor for the Beggs Laboratory specializing in the genetics of congenital myopathies among other rare and undiagnosed disorders. She joined the Beggs team in 2015 after receiving her Master’s degree in Genetic Counseling from Boston University. Casie also leads a study that surveys the mothers of children with X- linked Myotubular Myopathy. If you are interested in this survey and/or enrolling in the Beggs Lab, please e-mail Casie at cgenetti@enders.tch.harvard.edu.

The Beggs Laboratory of Boston Children’s Hospital is a team of scientists and doctors under Dr. Alan Beggs, who have been committed to the study of congenital myopathies, such as centronuclear (CNM) and myotubular myopathy (MTM). Over the last twenty years, five genes have been found to be associated with CNM/MTM. Our quest is to further identify the genetic changes (mutations) that cause these neuromuscular diseases and to better understand the presentation of disease. This is done through genetic sequencing and gene expression studies as well as studying family inheritance patterns and clinical presentation of affected individuals. Ultimately, our goal is to better understand these myopathies in order to develop innovative therapies as treatment. If you are the parent of a child with a congenital myopathy or if you yourself are affected, you may be able to make an important difference in our research. To enroll in our research studies, e-mail Casie Genetti, the genetic counselor for the Beggs Lab at cgenetti@enders.tch.harvard.edu.