The Dandy-Walker Research Project | |
| Kathleen J. Millen, Ph. D. and William B. Dobyns, M. D. of The University of Chicago are conducting molecular genetics studies of Dandy-Walker malformation (DWM) and other related cerebellar malformations. | |
IntroductionDrs. Millen and Dobyns are interested in studying individuals and their families with ALL forms of DWM, including typical DWM alone, the Dandy-Walker variant, DWM associated with other birth defects, familial DWM with more than one family member affected, and DWM associated with abnormalities of chromosomes. | |
The goals of the project are: |
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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 • clinical notes should include gestational age and birth head circumference • copies or electronic files of MRI or CT scans • clinical photographs 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, is 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. |
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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. |
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Contact Information |
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| Kathleen J. Millen, Ph.D. William B. Dobyns, M.D. The Dandy-Walker Research Project The University of Chicago Department of Human Genetics 920 E. 58th Street, CLSC 319 Chicago, IL 60637 Tel: 773-834-3597 |
Mary King
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Department of Human Genetics, University of Chicago 920 E. 58th Street, CLSC 5th floor Chicago, IL 60637 phone 773.834.0525 fax 773.834.0505 |
Most recent update: January 30,
2008 |