Beggs Laboratory | Recent Developments

Conferences & Presentations

Last updated: October 2019

Members of the Beggs’ team have been busy attending and presenting at several conferences this year! Click on the links below to learn more about these conferences!

Members of the Beggs team taking in the sites of Chicago after one of the days after the 2019 Congenital Muscle Disease Scientific & Family Conference.


Mila's hidden mutation and a drug just for her: Manton Center Investigator Dr. Timothy Yu and the development of personalized medicine

Posted: October 2019

The Manton Center, along with Beggs Laboratory, is excited to share its role in helping with the development of personalized medicine for a young patient, Mila, diagnosed with Batten disease. The complete story can be found here.

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

Posted: November 2019


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 & Frequency of Food Consumption) - Estimated Completion Time: 20 minutes
  2. Breathing Function - Estimated Completion Time: 20 minutes
  3. Geography & Environment - Estimated Completion Time: 5 minutes
  4. Exercise & 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


Click Here to Enroll in the Study!


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

Thank you!

             Rachel Alvarez                                                                Jaclyn Prystupa
             Executive Director                                                         Research Technologist

The BabySeq Project

Posted: September 2018

One of the exciting new projects that the Beggs Laboratory has been collaborating on is the BabySeq Project, which looks at how genomic sequencing tools can efficiently and safely be implemented with for newborn screenings. To learn more about this project, follow the above link!


Manton Center for Orphan Disease Research

Posted: October 2007

Dr. Alan Beggs was named the Sir Edwin and Lady Manton Professor of Pediatrics in the Field of Genetics at Harvard Medical School, as well as the first Director of the new Manton Center for Orphan Disease Research at Children's Hospital. The center supports research and training, and it raises awareness and funding for the broad range of "orphan" diseases that affect people worldwide. For more information, please visit the Manton Center website.


Recent Scientific Publications

Last updated: August 2020

Members of the Beggs' team, along with other affiliation and collaboration labs, continue to explore and further understand our knowledge of congenital myopathies. See below for the our most recent published articles (within the last 3 years). For a complete list of the Beggs' publications (organized by category) please see our Publications page!  




This page was last updated August 17, 2020.