Christopher A. Walsh Laboratory
	Genetic Conditions Patient Info Sheets Polymicrogyria Research Collaboration Causes of Mental Retardation Genes Identified Publications Support Our Research Contact Info Participate in Research Study Internet Resources Directions Clinic for All Ages: Comprehensive Brain Malformation Program Home		Participate in Research Study Expectations for families and research participants We hope that our research will help us to locate and identify genes that may cause or contribute to genetic disorders. If we do find such a gene, we then research how this gene functions within the brain to learn more about normal and abnormal brain development. We also search for specific mutations within the gene that are responsible for the disorder in each family. Often, there is a different mutation in the gene in each family studied. If a mutation is identified, this confirms the diagnosis for the family and allows the possibility of carrier testing for unaffected family members. It may also allow the possibility of prenatal testing for "at risk" couples. Most families who participate in research are hoping that our research will yield results which will allow them the option of this testing and will confirm their diagnosis. However, it is important to note that we cannot promise that our research will yield results in a timeframe that is useful to families. Our laboratory has identified several genes associated with various abnormalities of brain development. This could not have happened without the generous participation of the many families who have donated their DNA and medical information for our research. We are indebted to all those who have and who continue to participate. Participants In Our Research Our lab has long had an interest in human conditions that affect learning and memory or that cause epilepsy (seizures). Many of these conditions reflect abnormal development of the brain. For example, sometimes the brain is not the right size or shape, or the brain cells do not become properly interconnected. Understanding how the brain forms will be invaluable in helping scientists to understand problems ranging from epilepsy to mental retardation to brain trauma and injury. Also, these conditions affect genes that regulate the proper development of the brain so that understanding them helps teach us how the human brain develops and how it may have evolved. Our hope is that our research will eventually contribute to effective treatment or therapy for individuals with all these conditions. One good way to study brain development is to identify the proteins involved in this process and the genes that code for those proteins. By identifying a gene that is altered in individuals born with a brain malformation (such as lissencephaly, polymicrogyria, schizencephaly, pachygyria, heterotopias, etc.) we will accomplish two goals. First, we will have discovered another protein important in the process of brain development and whose role in this process we can study further in the laboratory. Second, we will be able to confirm the inheritance pattern for that condition and allow the possibility of genetic carrier testing for families affected by that condition. Criteria for study participation Anyone with a disorder of brain development and his/her close family members may be eligible to participate in this research. Participation involves having a blood sample (usually about 4 teaspoons, less for young children) drawn from the patients, parents, and any brothers or sisters. This blood is sent to our laboratory for the DNA to be studied. We also request a copy of the patient¼s medical records and any MRI or CT films. What is expected of me if I participate? Participants do not need to come to Boston. We can send a package to families which includes the tubes for your blood, consent forms and medical record request forms. Families generally take this to their doctor or laboratory to have their blood drawn, return the tubes to the package, then send it back to us by Federal Express (we pay for the shipping and reimburse for any charge associated with having your blood drawn). Timeline Genetics research is unpredictable. We may locate a gene responsible for a genetic disorder very quickly or it may take many years. We may also search for years without ever finding what we are looking for. There are several factors which may determine how quickly the research proceeds: How many individuals with the same genetic condition are enrolled in the study (the more, the better), whether or not we have any "clues" to help show us where to look for a gene (such as rearrangements in the chromosomes), and luck. Will I Receive Any Results? General results of the study are made available when the study is complete. Research-only laboratories such as ours are not currently permitted to release individual results to families. However, if the research findings may be of possible medical benefit to you we will attempt to contact you if you have requested this. You can make a decision at that time about how much information you wish to learn. If you wish to learn your personal genetic information, there are several commercial laboratories that can confirm our findings and release the results to you. This may require additional blood samples. How Do I Enroll? If you are interested in learning more about the research, contact our Clinical Research Coordinator by e-mail at walshlab@bidmc.harvard.edu or by phone at (617) 919-2923. 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