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Beggs Laboratory Research | Overview

Beggs lab logo of woman holding child surrounded by six squares of different colored cells


Boston Children's Hospital is well known for its combination of first-rate clinical care and for its outstanding research. Our laboratory is part of the Division of Genetics & Genomics in the Department of Pediatrics at Boston Children's Hospital. We have been committed to the study of neuromuscular disease since the early 1990's. Our group includes a team of scientists and doctors whose goal is determining which genes and proteins are involved in neuromuscular disease.

We are also affiliated with the Department of Pediatrics of the Harvard Medical School. As a Harvard academic affiliate, our lab has been the training site for a number of researchers that have made important contributions to the genetics field. We are proud to say that many of our alumni are still working on neuromuscular disease.

What’s New in the Beggs Lab

two women on a stage shaking handsCongratulations to Dr. Pamela Barraza, postdoc in the Beggs Lab, for winning one of the two Trainee Best Poster Awards at the 2022 National MDA Clinical and Scientific Conference.






Exciting advancements in gene therapy

A Beggs Lab collaboration has led to exciting findings that improve the way gene therapy is delivered to muscles, while also reducing the unwanted side effects, which have hampered the development of gene therapy for many conditions. This work was highlighted by the Director of the NIH: Engineering a Better Way to Deliver Therapeutic Genes to Muscles

Thank you for your interest in our research!

The purpose of this site is to introduce visitors to our research. Our main goal is to study the basic biology of skeletal muscles and to use this information to understand the genes and proteins involved in the cause of neuromuscular disorders. What we learn helps us to develop better diagnostic tests, treatments, and therapies for some of the congenital myopathies such as Congenital Fiber Type disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline MyopathyRyanodine Receptor 1 (RYR1) Related MyopathiesSELENON-Related Myopathies, and congenital myopathies in which a specific diagnosis has not been established.

The results derived from our research have shed light into some of the most difficult questions about the genetics of the congenital myopathies. Our progress has been made possible in part thanks to the generosity of many families around the world who have participated in, and supported, our research. Families enroll in our studies because they want to contribute to research, hoping that their participation may eventually benefit all individuals with neuromuscular disease. Our goals are to help all patients and their families by improving diagnosis and treatments for these disorders.