Beggs Laboratory




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

Be sure to visit our Recent Developments page for other Beggs' new stories!

Rosen S.M., Joshi M., Hitt T., Beggs A.H., Agrawal P.B. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020; 29:1996-2003.

Rockowitz S., LeCompte N., Carmack M., Quitadamo A., Wang L., Park M., Knight D., Sexton E., Smith L., Sheidley B., Field M., Holm I.A., Brownstein C.A., Agrawal P.B., Kornetsky S., Poduri A., Snapper S.B., Beggs A.H., Yu T.W, Williams D.A., Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.

Birgmeier J., Haeussler M., Deisseroth C.A., Steinberg E.H., Jagadeesh K.A., Ratner A.J., Guturu H., Wenger A.M., Diekhans M.E., Stenson P.D., Cooper D.N., Ré C., Beggs A.H., Bernstein J.A., Bejerano G. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Sci Transl Med. 2020; 12(544).

Mackay Z.P., Dukhovny D., Phillips K.A., Beggs A.H., Green R.C., Parad R.B., Christensen K.D. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020; 23:559-565.

Pellerin D., Aykanat A., Ellezam B., Troiano E.C., Karamchandani J., Dicaire M.J., Petitclerc M., Robertson R., Allard-Chamard X., Brunet D., Konersman C.G., Mathieu J., Warman Chardon J., Gupta V.A., Beggs A.H., Brais B., Chrestian N. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020; 87:568-583.


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 MyopathySELENON-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.


This page was last updated August 17, 2020.