Information for Healthcare Providers
Thank you for your interest in our research!
This section contains general information about our Institutional Review Board (IRB) approved studies on the genetics of the congenital myopathies.
We also provide password-protected instructions for submitting patient samples and informed consent forms that can be downloaded from this site. The information presented here is provided for the convenience of physicians and genetic counselors that would like to refer a family to our research studies. We would be happy to communicate directly if you prefer. For our contact information, go to contact us.
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. Among the diseases we study are:
|Diseases||OMIM Entries||Gene Reviews|
|Congenital Fiber Type Disproportion||CFTD||CFTD|
|Multiminicore Disease||MmD||Multiminicore Disease|
|X-linked Myotubular Myopathy||MTM 1||X-Linked Myotubular Myopathy|
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
- Identification of new muscle-specific genes and proteins through biochemical and molecular analysis
- Gene expression studies using the microarray technology
Visit Information for Researchers for detailed information about our research studies.
REPORTING OF RESULTS
Our work consists of research studies of indefinite duration. In addition, due to the lengthy and unpredictable nature of these studies, it is unlikely that we would make any clinically-relevant findings in the near future. In addition, because this is a research laboratory, we cannot report results from this study. This is because in the United States, the Clinical Laboratory Improvement Act/Amendment (CLIA) requires that laboratories performing clinical tests meet certain quality and expertise standards. However, if we obtain information that we think might be significant to the family, we may be able to have these results confirmed by a CLIA-certified clinical laboratory.
Although there is no charge for participation in our research study, there will most likely be a charge associated with the repeat clinical testing. The charge may vary depending on the laboratory. If the patient's results were confirmed, they would be reported to the patient's referring physician/genetic counselor. Although we do not always have definitive tests that might help to make a genetic diagnosis, participation of affected families will greatly aid our research on neuromuscular disease.
We look forward to hearing from you!