Research

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Frequently Asked Questions

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 electronic mail, whichever method is more convenient to you.

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.

What are the names of the investigators?

The principal investigator of this research is Alan H. Beggs, Ph.D. For a current listing of other lab members, visit our Members page.

What agency is funding the research?

Our research is funded by the National Institute of Arthritis and Musculoskeletal and Skin Disorders at the National Institutes of Health (NIH), the Muscular Dystrophy Association (MDA USA), the Joshua Frase Foundation, as well as generous support by private individuals. You can also visit the Sponsors section.

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 Ways to Help for more information.

Contacts

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Who would be my contact person in the lab?

The main contact person in our laboratory is Lindsay Swanson. To

reach her, call (617) 919-2169 or email lswanson@enders.tch.harvard.edu

Who can I contact at Children's Hospital about questions on this research?

For questions or comments about the Institutional and Ethical oversight of our research, you can contact the Children's Hospital's Clinical Investigations Office at 617-355-7052.

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Risks and Benefits

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What are the benefits of participating in this research?

Our research could lead to new information about neuromuscular disease and the genes involved. This information may lead to better diagnostic tests, treatments and therapies. We may also be able to find the genetic cause of the neuromuscular disorder in your family.

What are the general risks of participating in this research?

The risks of participating in this research study can be summarized in five categories:

1. Risks associated with blood drawing. You may experience minor discomfort, bruising, and rarely dizziness and/or fainting as a result of having blood drawn. When possible, we will draw blood at the time of a medically indicated procedure so that you will not need to have blood drawn only for research purposes.

2. Risks associated with the biopsy procedure. The medical risks and discomfort will be not significantly greater than those already associated with the surgical procedure that has been, or will be, performed. Removal of any additional material for research purposes will only be performed if your surgeon believes that doing so would represent no or minimal additional risk beyond that associated with the clinical procedure being done. There is a risk that insufficient material for study may be obtained, in which case the research will not be carried out.

3. Risks associated with gathering medical history. Some of the information regarding your family or medical history may be uncomfortable to discuss. If this occurs, these questions may be stopped at your request. You should be aware that we may detect instances of non-paternity or adoption. If you wish, you may let us know in confidence if this is a possibility, since it may otherwise interfere with our analysis. In all cases, this information will be kept in the strictest confidence and will not be divulged to anyone.

4. Risks associated with genetic testing. There is a chance that participation in this study could cause emotional distress. Some people involved in genetic studies have felt anxious about the possibility of carrying an altered gene that places them at risk or that may be passed on to their children. If these feelings arise at any time during the study, you may contact us and we will arrange for you to speak with a genetic counselor. There may also be social or economic risks associated with the gathering of genetic information. Our testing may find that you carry an altered gene that puts you or your children at risk for developing a muscle disorder. It is uncertain whether this information could affect your ability to be employed or insured. However, individually identifiable results from this research study will not be available to non-study personnel and will not be placed in your medical record without your consent. It is therefore unlikely that an insurance company or employer would ever learn of such results.

5. Risks associated with participation in medical research. Unfortunately, it is possible that no findings will result from this research effort. Any significant findings that do result may take months or years to complete. If you wish to inquire into the progress of our research, you are welcome to do so at any time. For more details about the risks of participating in this study, please contact us.

In addition to the risks associated with obtaining a blood sample, is there a possibility of additional physical risks?

There is no additional physical risk beyond the risks associated with blood drawing.

What will happen if I become injured while I am participating in the study?

If the injury is research related, patients can request to speak with a member of the Children's Hospital Clinical Research Committee by calling (617) 355-7502.

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Results

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Will I be able to find out the results of the research?

Because we are a research laboratory and not a clinical laboratory with certified procedures for reporting patient results, we cannot directly release results from this study to you. If we obtain information that we think might be significant to your family, we may be able to have these results confirmed by a CLIA-certified clinical laboratory. A CLIA lab is a lab that is authorized to release results from patient tests for clinical and diagnostic purposes. There will most likely be a charge associated with this testing, which will vary depending on the laboratory. Most CLIA laboratories will ask for fresh blood samples in order to ensure the accuracy of the results. If your results were confirmed, they would be reported to your physician and made available to you with proper genetic counseling.

Our consent forms provide a space for the participant to indicate whether s/he wishes to be contacted about availability of results. If you choose to be contacted, you will be asked to provide the name of the healthcare provider we should contact to discuss making arrangements with a certified lab. We will make every reasonable effort to get in touch with the person you specify.

What if I do not want to be informed of my results?

Some individuals may want to contribute to research but do not necessarily want information about their own genetic status. Families have the option of participating in the study without finding the results. Our informed consent form has a space for the participant to indicate whether or not s/he wishes to be informed of any results from this study. If the participant checks "no", then we will not make any effort to contact the physician if we have results pertaining to the participant's family. However, if the participants are welcome to contact us to inquire about the general status of our research.

If genetics services, tests, or treatments are developed from this research, how will I be told about their availability?

If genetics services, tests, or treatments are developed from this research, a member of our study will make all reasonable efforts to contact participants, their referring physicians, and/or the information will be published and made available to the patient community through their personal physicians.

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Science and Genetics

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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 30,000-40,000 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.

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" web site. 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 such as gene expression "chips" (microarrays) will expedite the process of finding a cure.

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 mutation in the DNA in the mother or father before the child is born?

There are many reasons that a mutation can arise. There may be some risk that oxidants, radiation, or toxins that we are exposed to in our environment might damage our DNA. However, mutations also arise 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. Actually, some genetic alterations are known to make people resistant to certain diseases.

Has there been a questionnaire done for the parents? Starting with them and looking at maybe some similar common denominators between the parents health, may help to discover the onset of the gene mutation?

As far as we know, a study like this has not been done because we have no reason to think that parents of children with neuromuscular disease are any less "healthy" than other people. Most of us probably carry a few genetic alterations that, under certain circumstances, could potentially lead to disease in our children. Judging by the fact that so many parents of children with genetic diseases are healthy and have no unusual history of exposures, we would guess that most of these genetic changes originated by chance.

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Costs

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Are there any costs associated with participation in this research?

There is no fee for you to participate in our research. Expenses for blood drawing and shipment of specimens to Boston will be paid for by the study.

Is there any compensation for the time involved?

Participants are not paid or otherwise compensated for participation in this study.

Will the costs associated with travel, child care, or special services be reimbursed?

Travel to Boston is not required. Costs associated with childcare and special services are not reimbursed by this study.

What additional health care costs may be associated with participation in this study?

There is a possibility that we are able to find information that is clinically relevant to the family. If so, we can have results confirmed by a CLIA-certified lab. There will most likely be a charge associated with this confirmation testing, which will vary depending on the laboratory. Most CLIA laboratories will require fresh blood samples in order to ensure the accuracy of the results.

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Privacy and Confidentiality

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What will happen to the stored DNA samples or any of my genetic information after this project is complete?

Any samples remaining from our research may be stored indefinitely for use in future studies on neuromuscular disease. The samples will remain in the possession of Dr. Beggs. If Dr. Beggs chooses to share your samples with other investigators studying neuromuscular disease, your samples will be assigned a unique identification number and will be distributed without your name, medical record number, or other information linking the sample to you. Your identity will not be shared with outside researchers without your explicit consent. If at any time you would like to have your sample removed from storage, please let us know and it will be transferred or destroyed according to your wishes.

Will any of my genetic information be distributed to pharmaceutical or biotechnology companies, genetic laboratories or government agencies?

Samples and medical information obtained for this research study will be accessible only by the researchers directly involved in this study. We will not release your information to others without your explicit consent.

What will happen to my cells, DNA, or personal genetic information if I choose not to participate at all or withdraw from the study?

You should not feel any pressure to participate. You are free to withdraw from the study at any time without any adverse effect on your or your familys medical care. Declining to participate or withdrawing your participation will result in no loss of benefits to which you are otherwise entitled. If at any time you would like to have your sample removed from storage, please let us know and it will be transferred or destroyed according to your wishes.

How will confidentiality of the records, including photographs, be maintained?

Samples and medical information obtained for this research study will be accessible only by the researchers directly involved in this study. We will not release your information to others without your explicit consent.

Will the results obtained from this study affect my ability to be employed or obtain medical insurance?

The Beggs lab does not intend to reveal research information on your family. Your involvement and potential results are kept privately and we will not release any information unless compelled to do so by law. To help us protect your privacy, we have obtained a Certificate of Confidentiality from the National Institutes of Health (NIH). With this Certificate, our researchers cannot be forced to disclose information that may identify you, even by court subpoena, in any Federal, State, or local civil, criminal, administrative, legislative, or other proceedings. There are a few exceptions to this added protection:

  • Identifying information may be released for audits or evaluations by the U.S. Government of federally funded research.

  • When you or a family member voluntarily choose to release information

  • Under circumstances of child abuse, intent to injure others or oneself, or other life threatening events.

Although we will do our best to keep this information under strict confidentiality, there is a risk that this information will become available to employers or potential insurers.

This is why some laws have been created with the purpose of protecting individuals from genetic discrimination. For those covered by group policies, the Health Insurance Portability and Accountability Act (HIPAA, 1997) declares that "genetic information" cannot be considered a preexisting condition. A preexisting condition is something for which the person has been treated or diagnosed within the last six months (including prescription medication). In other words, although insurance companies are entitled to refuse to cover expenses related to preexisting conditions, the HIPAA prevents them to refuse to pay expenses just based on genetic information. It is important to know that this law does not prevent insurance plans from raising the cost of health plans for the entire group. In addition, under HIPAA, the Department of Health and Human Services promulgated several regulations regarding privacy of genetic information.

The Equal Employment Opportunity Commission (EEOC) has done its part in trying to protect individuals from genetic discrimination as well. The EEOC already enforces the Americans with Disabilities Act (ADA) to protect individuals with disabilities from job discrimination. The EEOC investigates claims in which the ADA has been violated, filing suits seeking damages for those harmed by violations. Similarly, the EEOC issued a guidance statement saying that the ADA would also protect individuals who have been victims of genetic discrimination.

These regulations help to shape the attitude of our society towards genetic information. Most US States already prohibit genetic discrimination by health insurers, employers, or both. Despite this, the Beggs lab can not guarantee that if this study reveals that you have a neuromuscular disease-causing mutation there won't be economical implications for you or your family. Nevertheless, it may help to know that, as of today, there is no documented evidence of health insurance discrimination resulting from genetic testing or participation in research studies.

To read more about this topic, visit the National Human Genome Research Institute's website sponsored by the National Institutes of Health.

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Enrollment and Participation

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May I ask a friend or family member to help me, either while deciding to participate or while participating?

Of course! Candidate participants may want to discuss the possibility of enrolling in this study with a support person. It is also a good idea to discuss this option with a physician and/or genetic counselor. It is not necessary to come to Boston to participate in our study. Families can choose a blood drawing place that is convenient and may want to bring a friend or family member with them that day.

What will happen if I decide to withdraw from this project?

Our participation in this study is voluntary. You should not feel any pressure to participate. You are free to withdraw from the study at any time without any adverse effect on your or your family's medical care. Declining to participate or withdrawing your participation will result in no loss of benefits to which you are otherwise entitled. There may be scientists at other institutions doing similar research on neuromuscular disease. You are free to enroll in other studies in addition to or instead of this one.

Why does the Beggs laboratory need blood samples from members of my family who do not have the disease?

There are a few reasons why we ask for blood samples from unaffected family members as well as from individuals who have a congenital myopathy. One reason is that when we find a genetic alteration in the patient, testing family members who are not affected helps us determine whether it is really the cause of the disease or just a benign variation in the family. Looking at DNA from family members can also tell us how the disease is inherited.

In large families where there are several individuals who have the disease, we may be able to find the gene involved using a powerful method called linkage analysis. Linkage analysis is one of the most popular methods used to determine the location of a disease-causing gene. Linkage analysis allows identification of a piece of DNA that is inherited by all family members affected by the disorder being studied, and is not inherited by any of the unaffected family members. This piece of DNA can be compared to a "sign post", suggesting that the gene that is causing the neuromuscular disease in the family may be close by, or linked to the gene of interest.

This is why we need blood samples from both affected and non-affected family members. For linkage studies, we ask for blood samples from as many closely related family members as possible. The more people who participate, the greater the chance we will find a gene change as the cause of the condition in the family.

What happens if the Beggs lab needs to have other family members involved in the study?

We will contact you directly to discuss the possibility of having other family members involved. We may ask the participant to tell other family members about our studies. If other family members are interested in learning more about our project, they can contact us and we will be happy to talk with them and answer any questions they may have.

Will special services be available for me if I need them (e.g., interpreters, Braille, child care)?

Consent forms are available both in English and Spanish. If the patient is not an English speaker, we can arrange to have an interpreter if the patient comes to this hospital for a blood draw. Braille and/or child care services are not offered.

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