Beggs Laboratory
Welcome!
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!
WMS25: Virtual Congress
Members of the Beggs Lab are excited to announce that they recently attended the WMS 2020 Virtual Congress, where they were able to present the following posters:
- LSP7 – Clinical and genetic aspects of DNM2-related centronuclear myopathy; a retrospective, medical chart review to establish natural history – Aykanat, A., S. Hoffmann, C. Genetti, K. Paradis, H. Paterson, S. AlHusayni, B. Lin, L. Thielemans, C. Freitag, and A. Beggs.
- P332 – Role of whole exome sequencing in identifying rare genetic variants in a cohort of patients presenting with congenital myopathy – Aykanat, A., C. Genetti, W. Win, Z. Valivullah, E. O'Heir, B. Darras, R. Laine, A. O'Donnell-Luria, and A. Beggs. This poster also received an Elsevier WMS Membership Award (October 2020)!
- P194 – Diet, Motor Activity & Daily Activity Limitations in Individuals with SELENON (SEPN1)–Related Myopathy – J. Prystupa, R. Alvarez, C. Genetti, E. Weller, S. Liu, E. Troiano, B. Moghadaszadeh, and A. Beggs. For details on this poster please see below and our WMS2020 subpage.
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:
- Food Frequency (Diet Composition and Frequency of Food Consumption) – Estimated Completion Time: 20 minutes
- Breathing Function – Estimated Completion Time: 20 minutes
- Geography and Environment – Estimated Completion Time: 5 minutes
- Exercise and Mobility – Estimated Completion Time: 10 minutes
- 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 selenon-study@cmdir.org.
Thank you!
Rachel Alvarez
Executive Director
Executive Director
Jaclyn Prystupa
Research Technologist
Research Technologist
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 Myopathy, Ryanodine Receptor 1 (RYR1) Related Myopathies, SELENON-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 October 20, 2020.
