Yale University Study

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    Genetic Causes of Congenital Hydrocephalus


    Yale University
    The Anlyan Center
    300 Cedar Street, Room S311
    New Haven, CT 06519


    The Hydrocephalus Association invites you to participate in an HIC/IRB-approved study currently being conducted by principal investigator Kristopher T. Kahle, M.D., Ph.D. (Yale), Murat Gunel, M.D. (Yale), and Richard Lifton, M.D., Ph.D. (Rockefeller University and Howard Hughes Medical Institute). It is an initiative that will allow a better understanding of the genetic causes of congenital (developmental) hydrocephalus.

    Why is this research being done?

    The overarching objective of the study is to gain insight into the molecular pathogenesis of hydrocephalus that could lead to improvements in preventive, diagnostic and therapeutic strategies in the near future.

    Study Participants

    Who is eligible to participate in this study?

    This study is for families affected by congenital (developmental) hydrocephalus

    Study Components

    There is no cost to the patient/family for participating in the study—all costs are covered by research grants. Subjects will not have to travel to Yale. Participation is completely voluntary. Interested subjects will provide a sample of mouth epithelial cells with the provided buccal swab kit as well as complete a consent form and medical intake form. No needle sticks or clinic visits are required for most participants.

    Buccal swab collection kits and study documents will be mailed to your home via FedEx along with a pre-paid return label to send the sample/documents to the lab at Yale. The entire process takes about 10 minutes. Once the sample arrives in the lab, Yale will extract DNA from the buccal swab and read the genetic code. This process is called whole exome sequencing.

    To help in identifying the cause of the condition in your family, it will be necessary for immediate family members to also participate, including parents and siblings (both affected and unaffected). Study participants may know about the results of their research findings if they indicate on the consent form that their physician can be informed of results. Participant information will remain strictly confidential and no part of this research project including its results will be tied to any person’s identifying information.

    Sign Up!

    If you are interested in participating or have any further questions or comments, please send an EMAIL to hydro_genetics@yale.edu. For interested patients or families, the research staff will then provide more information including consent documents and further instructions.

    Additional Information

    This study is supported by the NIH Centers for Mendelian Genomics and is a collaborative effort of patient families, referring physicians from across the United States, and international collaborators from Lebanon, Turkey, and Uganda.