Nemaline Myopathy Support Group

Research

Dr. Alan Beggs (USA-MA-Boston)

Genetic Research on Nemaline Myopathy

Information for Patients and Families Boston Children's Hospital. We are a group of scientists and doctors studying the genes that may be involved in the cause of muscular disorders. One of our goals is to determine which genes and proteins are involved in nemaline myopathy, a rare muscular disorder. With the generous help of enough candidate families, we may be able to learn information that will hopefully help us understand this disorder, improve diagnosis and develop new treatments. We currently know of five different genes associated with nemaline myopathy. Each of these genes carries instructions to make a protein that is important for muscle function. These proteins are called actin, nebulin, tropomyosin 2, tropomyosin 3, and troponin T. An alteration in any of these genes can result in a non-working protein, causing nemaline myopathy. Some patients do not have an alteration in any of the genes we know about. For this reason, we suspect that there may be additional genes involved in nemaline myopathy yet to be discovered. If you are the parent of a child with nemaline myopathy, or if you yourself are affected, you may be able to make a meaningful difference by helping us find new genes and proteins associated with nemaline myopathy.

Participation consists of

  1. Informed Consent If you are interested in learning more about us, we will send you a consent form that explains the research study in more detail. Each family member who decides to participate will need to sign a different consent form. If the participant is a minor, a parent/guardian will be the one who provides consent.
  2. Medical information and family history Once you have decided to participate in our study, we will ask your permission to obtain relevant medical records, such as a muscle biopsy report, from your physician. We may also ask you some questions about your family medical history. This can be done through a brief telephone interview.
  3. Blood sample We ask for a small blood sample from all available and consenting family members. This blood sample will be used to isolate the genetic material (DNA). The DNA will be screened for alterations in genes that may be involved in nemaline myopathy. We can arrange the blood draw either through a participant's physician or a nearby medical facility. All costs for the blood draw are paid by our laboratory.
  4. Muscle tissue from an existing biopsy Studying muscle from a person who has nemaline myopathy can tell us a lot about the genes and proteins involved in the disease. We can help find out if any frozen tissue is still available from an existing muscle biopsy and, with your permission, arrange to have it shipped to our laboratory. Alternatively, if you or your child is scheduled to undergo a surgical procedure in the near future, this may provide an opportunity to donate a muscle specimen. With some procedures, it is possible for the surgeon to remove a small piece of muscle without any additional risk or discomfort to the patient. Cost and time commitment: Participation in this study is free of charge. Travel to Boston is not required and individuals from anywhere in the world may participate. The phone interview, blood draw, and paperwork should take no more than 2 hours to complete.

Reporting of Results

It is possible that we identify a gene alteration as the cause of the muscle disease in your family. In this case, and with your permission, we will be happy to make it available to you. As a research laboratory, we are not authorized to release patient results, but we can refer you to a laboratory that would confirm our findings and report the results to your healthcare provider.

If you would like to know more about this study, please contact :

Children's Hospital - Division of Genetics
Enders 5
300 Longwood Avenue
Boston
MA 02115, USA
Phone: (617) 355-2185
Fax: (617) 355-7588

Useful links

The Beggs laboratory

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The Beggs Laboratory
Division of Genetics, CLS 15th Floor
Boston Children's Hospital
300 Longwood Avenue
Boston, MA 02115

Tel: 617-919-2171
Fax: 617-730-0786
beggslab@enders.tch.harvard.edu

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A Foundation Building Strength

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A Foundation Building Strength is a non–profit organization dedicated to finding treatments for Nemaline Myopathy.

Contact Information:
Marc Guillet
3825 El Camino Real
Palo Alto, CA 94306
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