For Families and Collaborators | Overview
Frequently asked questions (FAQs)
Below, we have tried to answer some of the more common questions about participating in our research studies. In addition, please click on the icons to the left of this screen for information on enrolling at Boston Children's Hospital, enrolling outside Boston Children's Hospital, and to access our research participation forms.
What kind of families/individuals are needed for our research?
We are interested in enrolling families and individuals with defined or undefined Ocular congenital cranial cysinnervation disorders (CCDD's), other CCDDs and common strabismus. Ocular CCDDs we are actively enrolling include, but are not limited to:
- Congenital Fibrosis of the Extraocular Muscles (CFEOM)
- Duane Syndrome
- Strabismus Fixus
- Brown Syndrome
- Congenital Ptosis
- Congenital Ophthalmoplegia
- Congenital Strabismus
- Horizontal gaze palsy
- Marcus Gunn Syndrome
- Moebius syndrome
Other CCDDs we are also enrolling include:
- Herediary facial weakness
- Lower cranial nerve dysfunction
We are also actively enrolling Common strabismus.
We are happy to talk with you either by phone (tel: 617-919-4030 or e-mail: firstname.lastname@example.org) to discuss our research study and arrange participation. It does not matter where the family is located, if they don't all live in the same town or have the same physician or genetic counselor. We are happy to coordinate sample and information collection from multiple, even international, sites. There is no charge for you to enroll in our studies, we pay for all shipping costs.
What does participation mean?
show_more_startParticipation in our studies is easy and no longer necessitates getting blood drawn. We would need each participant to fill out an information sheet, provide us with details of their ophthalmologic and medical examinations, and provide a salivary specimen (or occasionally a blood sample) for DNA extraction and genetic studies. Photographs and, in some circumstances, video recordings of eye movements can also be of great help. In all cases, each participant needs to understand the implications of participating and to grant us their 'informed consent'.
We usually mail you out a participation package containing the salivary kits (or blood tubes) and forms for completion together with a FedEx envelope for sending completed forms and samples to the laboratory. We pay for all shipping costs. DNA extracted from your blood/salivary sample is used only for our study and your personal information remains confidential.
Some CCDD individuals undergo strabismus surgery in an attempt to correct the drooping of their eyelids or the fixed position of the eyes. This procedure may involve resection of a piece of extraocular muscle, which is then either discarded or submitted for pathologic examination. We may occasionally request these rare extraocular muscle biopsies if we are aware that you are undergoing strabismus surgery and the discarded tissue may be obtained, with your consent, from pathology departments or directly from the operating room.
Who will have access to your information?
All the information obtained is confidential and will only be made available to others with your permission. The results of our studies are considered research and are not part of your medical record.
What are the benefits of participating in this research?
Our research could lead to new information about Congenital Cranial Dysinnervation Disorders and the genes involved. You and your family may not directly benefit by participating in this research, however we hope that in the future information obtained from this study will help in our understanding of the genetic causes of eye and eyelid movement disorders. This may eventually lead to new forms of treatment and diagnosis.
What are the risks of participating in this research?
a) Risks associated with a blood draw are minor discomfort and bruising. When possible we will draw blood at the time of a clinically indicated procedure so that you will not need to have blood drawn only for research purposes. Whenever possible we will request a salivary specimen negating any risks or discomfort.
b) There is a chance that participation in this study could cause psychological 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 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.
c) You should also be aware that there might be social and economic disadvantages, which can be associated with the gathering of genetic information. You should understand that our testing might find an inherited defective gene, which puts you at risk for a genetic disorder in the future. Genetic information divulged to the wrong source, could affect you and your family (if an insurance company or employer acquired this genetic information) or socially. We will do our best to keep all information confidential and only with your permission would we make this information available to others. The results of the genetic tests performed for research purposes will not be placed in your medical record. In this manner it will be unlikely that an insurance company or employer would ever learn of such results. You should be aware that we may detect instances of non-paternity (the discovery through the analysis of genetic testing that the father is someone other than who he was thought to be), and such information may interfere with our analysis. This non-paternity information will be kept in the strictest confidence and will not be divulged to anyone.
What is the cost/time commitment?
There is no cost to participate in our research study. All charges will be covered by research grants. If you come to Boston Children's Hospital to enroll, participation should take no more than an hour. If you enroll outside Boston Children's Hospital you can provide everything needed for the study in the comfort of your own home and completion of the required forms and salivary specimen should take no longer than 30 minutes.
Will I be informed of the results of my participation?
Because we are a research laboratory and not a clinical laboratory with certified procedures for patient result reporting, we cannot directly release results from the testing to you. It is important to remember that results from genetic tests performed for research purposes may take months or years to complete. If you wish to inquire into the progress of this research, you are welcome to do so at any time. If we do obtain information that we think may be relevant for understanding the genetic basis of your disease 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. If results were confirmed, they would be given and reported to your physician and would be made available to you with proper genetic counseling. Please go to diagnostic testing to review the procedure for undergoing confirmatory testing.
Which family members do you require to participate?
If there is only one family member with this disorder we would still like to enroll all of the affected individuals siblings and both parents. If there are several affected family members we would ask for siblings, parents and additional family members to participate.
There are several reasons why we do this:
a) If we were to identify a genetic alteration in the proband (affected individual through whom interest is drawn to a family), 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.
b) 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. This is why we need salivary/blood samples from both affected and non-affected family members. For linkage studies, we ask for body fluid specimens 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.
There is no family history of this disease in my family prior to my child. How might a mutation have arisen?
A mutation could arise for several reasons that are either environmental or genetic in origin. 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.
What will you do with my DNA?
The DNA samples will be used for a number of purposes, and which purpose depends on the status of the particular disorder. For linkage analysis, all DNA samples from a family will be used to test the segregation status of a DNA polymorphism and the genetic trait. These studies should define the genetic location on the human gene map where the family's disease-causing gene is located.
The second use of the DNA samples will be to positionally clone a disease gene localized by linkage analysis to a particular region of the human genome. DNA samples from affected participants are tested for mutations in candidate genes within the critical region. If changes are identified by a screening technique they will subsequently be confirmed by direct sequencing. If the change is confirmed, it then becomes necessary to look for the change in control DNA in order to distinguish non-pathogenic polymorphisms from disease-causing mutations.
The third use of the DNA samples will be for mutation analysis of established disease genes. Once a gene is identified as mutated in a large family (families) with a specific disorder (such as KIF21A, as the CFEOM1 disease gene, additional samples are screened for mutations in order to determine the phenotypic spectrum resulting from mutations in the disease gene. Samples from small families that are consistent with linkage to the locus and sporadic cases of CFEOM for which no disease-causing mutation in another CFEOM gene has been found are analyzed for mutations.
Please see Techniques for more detailed descriptions of the techniques used in our laboratory.
What should you do if your family would like to participate in our research?
Please tell your physician or genetic counselor that you would like to participate in our study, and have him/her contact us. We will work with your physician or genetic counselor to coordinate and organize blood sample/salivary specimen and information collection. Alternatively you can contact us directly to learn more about the study and for enrollment details.