Molecular Genetic Studies of Brain MalformationsLissencephaly: the molecular basis of neuronal migrationPolymicrogyria: the molecular basis of cortical organization Human epilepsy genetics: neuronal migration disorders ACC: the molecular basis of midline brain development IntroductionThe information in this form is intended to introduce you to the brain malformation research project, or more accurately group of related brain malformation research projects, at The University of Chicago directed by Dr. William Dobyns with participation by many other investigators in several countries. The project began as the Lissencephaly Research Project, but has gradually expanded. The goals are to (1) learn about and classify the different types of brain malformations that occur in children and the disorders associated with each, (2) find the genes responsible for these malformations, (3) discover the changes of these genes that lead to the malformations, and (4) study how the gene and protein work in normal and abnormal brain development.The malformations under the most active study are listed below, but
we study many others as well.
ParticipationAny child or adult with a known or suspected brain malformation may be eligible for this study. We will review clinical information and brain imaging studies on affected persons to determine whether they meet criteria for one of our research projects. Some of these are active with laboratory studies underway now, while other projects are not active currently. We collect and store DNA for several of these. The clinical information that we need includes: • clinical summaries especially birth, genetics
and neurology records
All subjects with brain malformations are entered into our database to allow tracking of information and materials. Following our review of this data, we will determine whether the person with the brain malformation, or their family, are eligible for an ongoing laboratory research project. If not eligible for a research study, we will usually inform the referring professional or family member whether clinical lab studies are available in The University of Chicago molecular diagnostics lab or elsewhere. This review is intended only to determine whether participation in research is appropriate. Informed ConsentNo studies can or should be done until INFORMED CONSENT has been obtained. The current project consent form must be reviewed with the family by a physician or genetic counselor in the language most comfortable for the subject or family. It must be signed and returned to us before or with any blood samples. This is VERY IMPORTANT. There is also a separate consent form for parents.Clinical ReviewAs a result of this long-term project, the Principal Investigator (Dr. Dobyns) and selected Co-Investigators have become very experienced in evaluating these disorders. We are frequently asked by physicians, genetic counselors and parents to help with clinical care by providing formal opinions regarding the clinical diagnosis, genetic counseling, and medical treatment options. Such reviews are NOT part of the research project. We are aware that some of this information may not be available elsewhere, and will help when we can. We recommend that patients with complicated problems be referred to our Neurogenetics Clinic. Evaluations in clinic at The University of Chicago and standard clinical tests such as chromosome analysis are considered part of routine clinical care. The family or their third party payer must be responsible for these medical costs. We will also complete detailed reviews and send a formal consultation letter on a fee-for-service basis (usually U.S.$300) for complex problems when referral is not possible. When treatment issues such as seizures are the main concern, our experience has shown, not surprisingly, that problems are best resolved with a phone call or email from the correct specialist (i.e. the child’s pediatric neurologist).Contributions to ResearchMuch of the time involved with clinical reviews and some of the research projects cannot be supported with research funding. For all families participating, we wish to suggest voluntary contributions to one of our research funds. Please contact us directly if you are able to do so. In addition, contributions may be made to the Lissencephaly Research Fund of the Lissencephaly Network, Inc. Contributions are tax deductible. |
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Contact Information |
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| William B. Dobyns, M.D. The University of Chicago Department of Human Genetics 920 E 58th Street, CLSC 319 Chciago, IL 60637 Tel: 773-834-3597 Fax: 773-834-8470 Click here to send an e-mail to the project office |
Mary King
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Please remember to inform families that a parent support organization is
active in North America, and holds meetings every other year (1999-2001-2003
etc). Most parents have found them to be helpful. This group has
some members from elsewhere in the world.
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