Beggs Laboratory


This is the Beggs Lab Congenital Myopathy Research Program.

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

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

Be sure to also visit our Recent Developments page for other Beggs news stories!

The SELENON (SEPN1/Rigid Spine) Related Myopathy Study on the Effect of Diet & Lifestyle on Symptom Severity in Affected Individuals

The Beggs Laboratory would also like to let everyone know that participants for the SELENON (SEPN1/Rigid Spine) Related Myopathy Study on the Effect of Diet and Lifestyle on Symptom Severity in Affected Individuals are still being accepted. See below for details!

Guess What SELENON/SEPN1 Community!?

Cure CMD in conjunction with the Beggs Laboratory Program in Congenital Myopathies at Boston Children’s Hospital is excited to announce the official launch of:

The SELENON (SEPN1/Rigid Spine) Related Myopathy Study on The Effect of Diet & Lifestyle on Symptom Severity in Affected Individuals!

This study is comprised of a series of self-reported surveys designed to help researchers better understand your/your child's diet and lifestyle and how it relates to the diagnosis of SELENON/SEPN1-RM.

The surveys are divided into five (5) modules that cover the following topics:

  1. Food Frequency (Diet Composition and Frequency of Food Consumption) – Estimated Completion Time: 20 minutes
  2. Breathing Function – Estimated Completion Time: 20 minutes
  3. Geography and Environment – Estimated Completion Time: 5 minutes
  4. Exercise and Mobility – Estimated Completion Time: 10 minutes
  5. Final Questions (Diagnosis, Symptom Management, Additional Dietary Information) – Estimated Completion Time: 10 minutes

You are not required to complete all modules in one session!

You may complete one module at a time over the course of several days.

Upon completion of this enrollment form, you will receive an email with information you will need to begin the first survey module.

Your privacy is very important to us! Cure CMD and the Beggs Laboratory will take all necessary steps to ensure that that the information you provide is maintained in a securely encrypted database, and will not be shared without your consent.

Eligibility to Participate

You are eligible to participate in this study if you/your child meets all of the following conditions:

  • You/your child is an affected individual diagnosed with SELENON (SEPN1) Related Myopathy.
  • The affected individual is age five (5) years or older.
  • You are currently or are willing to be registered in the Congenital Muscle Disease International Registry.

If have any questions about your study participation, please get in touch by email at

Thank you!

Rachel Alvarez
Executive Director
Jaclyn Prystupa
Research Technologist

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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.


This page was last updated January 24, 2021.