Current Environment:

Study Enrollment | Overview


Thank you for your interest in our research!

Below you will find our information pertaining to study enrollment with the Beggs Laboratory.


Research goals

The fundamental goals of the Beggs Laboratory are to understand the molecular genetics of the congenital myopathies and use this information to develop improved diagnostic and therapeutic methods. Our research involves three complementary approaches:

  1. Enrollment of patients with congenital myopathies in our studies
  2. Studying the natural history of known congenital myopathies and identifying new muscle-specific genes and proteins through biochemical and molecular analysis
  3. Investigation of therapeutic approaches for congenital myopathies

Conditions of interest

The congenital myopathies are a group of rare genetic disorders that are present at birth and mainly result in muscle weakness. We are interested in many types of congenital myopathies, including non-specific myopathies, and other rare and undiagnosed muscle diseases . The diseases we study include:

Centronuclear Myopathy
Central Core Myopathy
Congenital Fiber Type Disproportion
Multiminicore Disease
Nemaline Myopathy
Ryanodine Receptor 1 Related Myopathies
SELENON Related Myopathies
X-Linked Myotubular Myopathy


We are interested in studying the subset of genes that are currently known to cause these conditions, as well as identifying new molecular causes of congenital myopathies. This list continues to grow and includes:ACTA1, BIN1, CCDC78, CFL2, DNM2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, MYH7, NEB, RYR1, SELENON/SEPN1, SPEG, TNNT1, TPM2, TPM3, and TTN.

Current projects

The Beggs Laboratory is currently leading, or participating, in the following studies:

What our research program enrollment entails

Participation generally involves a brief telephone interview, informed consent paperwork, and blood/saliva collection, usually requiring no more than two hours to complete. In addition, we will ask for permission to request your relevant medical records and to access existing tissue samples, such as a stored muscle biopsy, if available. Enrollment can occur remotely (no travel to Boston necessary), and there is no cost to participate.

How to enroll

If you or a family member or your patient has a congenital myopathy and you are interested in participating in our research, please contact our study genetic counselor:

Casie Genetti, MS, CGC
Phone: 617-919-2169


This page was last updated October 21, 2020.