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  Our lab has successfully identified numerous genes contributing to disorders of brain development. The nature of our studies does usually not require multiple visits or long study sessions. However, genetic research can be lengthy and unpredictable, and potential participants should have clear expectations of what's involved.
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  What to Expect?

Once we have determined that our studies are appropriate for an individual or family, they must be properly consented into our research. This can be done in person, at Boston Children's Hospital (BCH), or over the phone, for individuals not seen at BCH. Written informed consent is required from each adult participant and adult legal guardians provide consent for participants less than 18 years of age.

After informed consent is obtained, an individual's DNA (genetic material) from the blood or saliva samples collected is assigned a unique code and their research information is logged into our secure database. The specific research plan for each family's DNA often varies depending on their condition and family history. In many cases, we need to enroll several or numerous other families with the same or similar condition to be able to move forward with meaningful genetic analyses. Occasionally, we might request additional samples from previously enrolled research participants.

Our lab seeks to find genes that were not previously associated with or known to cause human conditions or disease. The function or role of many of the thousands of known human genes are still poorly understood however. Therefore, in addition to finding a gene and changes (mutations) within it that we believe cause a disease, we must also prove how that gene relates to the condition and why the mutation prevents the gene from working properly. Proving the effect of the gene mutation can take a great deal of time and effort by the lab researchers and our collaborators that can go far beyond the initial identification of the gene.

If a gene mutation is found in our lab and is determined to cause disease or be medically significant, an individual or family can be notified of this general information if they have indicated this wish on their research consent form. Since research labs operate under different regulations than typical hospital or commercial testing laboratories, a research finding must first be repeated and confirmed in an independent and authorized clinical laboratory. Only after this clinical confirmation step is done, can the details of the mutation be fully disclosed and discussed. Our study coordinators would arrange this with the assistance of a designated health care provider and help ensure the provision of proper genetic counseling.

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