This section is intended to provide answers to frequently asked questions about our research. If an answer provided here is not clear, if you want more details, if your question does not appear in this section, or if you have any comments, please do not hesitate to contact us. We will be glad to speak with you on the phone or communicate by email, whichever method is most convenient for you.
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General
- What is the purpose of the research?
The purpose of our research 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. Through this research, we strive to develop better methods to diagnose and treat these conditions.
- What are the names of the investigators?
The principal investigator of this research is Alan H. Beggs, PhD. For a current listing of other lab members, visit Our Team page.
- What agency is funding the research?
Our research is funded several different agencies, foundations, and philanthropic donations. Please visit the Sponsors section for more information.
- Besides donating blood and/or muscle tissue samples, are there other ways that I can help?
There are many things you can do to help. Go to the Ways to Help page for more information.
Contacts
- Who would be my contact person in the lab?
The main contact person in our laboratory is Casie Genetti, MS, CGC. To reach her, call 617-919-2169 or email BeggsLabGC@childrens.harvard.edu.
Science and genetics
- What is DNA?
Genetic information is coded in the DNA. Also, known as deoxyribonucleic acid, the DNA carries all the instructions for life and development. For example, the DNA controls how many fingers we have, the color of our eyes and where our legs are placed in our body.
- What is a gene?
A gene is a portion of genetic material (DNA) that determines a specific trait in a living organism. Human beings have approximately 20,000 genes.
- What is a protein?
Proteins carry out different functions in our body. For example, some proteins are responsible for making our teeth, others carry oxygen in our blood, and others make up our muscles. The instructions for making proteins are coded in the DNA. Each gene carries the "recipe" for making a specific protein.
- What is a genetic variant?
A variant is a change in the DNA compared to the general DNA reference sequence. We all have many genetic variants, but in some cases a change can cause a gene or protein to no longer function properly and can cause a health disorder. Sometimes these types of variants may also be called mutations.
- Where can I search up-to-date information?
The best way to find out about recent research on neuromuscular disease is to search medical and biology journals through the National Institutes of Health's PubMed website. Some of the journals are very specialized and won't be found in your public library, but you can obtain the articles you want through a medical or science library. You and your physician can also get up-to-date information on neuromuscular disease research by contacting the research labs directly. Although they probably won't answer specific questions about your or your child's symptoms or recommend treatment (only your physician can do that), many researchers are happy to discuss their work and recent findings with patients, families, and healthcare providers.
- Will this research provide benefits now or just future generations?
We certainly hope that we will find something that will benefit patients in the near future. However, the experience with most genetic diseases has been that it takes at least several years from the time a causative gene or protein is discovered before an effective treatment is developed. We hope that recent advances in biomedical technology will help expedite the process of finding effective therapies.
- There is no family history of neuromuscular disease in my family prior to my child. Can it be any cause and effect to cause a variant in the DNA in the mother or father before the child is born?
There are many reasons that a genetic variant can arise, including through the body's natural process of DNA replication. Each time a cell divides, the genetic material has to be copied or replicated. Sometimes, during this process, a mistake happens, resulting in an altered gene. Not all of these changes cause disease: they are an important part of evolution.
This page was last updated Oct. 21, 2020.