Thank you for your interest in our research!
Below you will find our information pertaining to study enrollment with the Beggs Laboratory.
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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:
- Enrollment of patients with congenital myopathies in our studies
- Studying the natural history of known congenital myopathies and identifying new muscle-specific genes and proteins through biochemical and molecular analysis
- 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
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- Central Core Myopathy
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- Congenital Fiber Type Disproportion
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- Multiminicore Disease
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- Ryanodine Receptor 1-Related Myopathies
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- SELENON Related Myopathies
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- X-Linked Myotubular Myopathy
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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:
- Molecular and Genetic Studies of Congenital Myopathies ClinicalTrials.gov Identifier: NCT00272883
- Genomic Sequencing for Childhood Risk and Newborn Illness ClinicalTrials.gov Identifier: NCT02422511
- Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO) ClinicalTrials.gov Identifier: NCT03199469
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network ClinicalTrials.gov Identifier: NCT02450851
- A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) (RECENSUS) ClinicalTrials.gov Identifier: NCT02231697
- A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS) ClinicalTrials.gov Identifier: NCT02704273
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
Email: BeggsLabGC@childrens.harvard.edu
This page was last updated October 21, 2020.