Yale University Study

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    Genetic Causes of Congenital Hydrocephalus


    Massachusetts General Hospital
    Wang Ambulatory Care Center
    15 Parkman Street, Boston, MA 02114


    The Hydrocephalus Association invites you to participate in an NIH-sponsored study currently being conducted by Kristopher T. Kahle, M.D., Ph.D. Associate Professor of Neurosurgery at Harvard Medical School (HMS), Director of the Harvard Center for Hydrocephalus and Neurodevelopmental Disorders (HAND), and Director of Pediatric Neurosurgery at the Massachusetts General Hospital (MGH). This is an immense initiative that will investigate the genetic causes of congenital (present from birth) hydrocephalus.

    Why is this research being done?

    The goal of this study is to gain insight into the molecular and genetic changes that cause hydrocephalus to develop so we can improve the preventive, diagnostic and therapeutic strategies for patients.

    Study Participants

    Who is eligible to participate in this study?

    This study is for families affected by congenital (present from birth) hydrocephalus.

    Study Components

    There is no cost to the patient/family for participating in the study—all costs are covered by the Kahle lab. Subjects will not have to travel to MGH or Harvard. Participation is completely voluntary. Interested subjects will provide a saliva sample with the provided saliva tube kit (or cheek swabs for very young participants) as well as complete a consent form and medical intake form. No needle sticks or clinic visits are required for most participants.

    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 Kahle lab at MGH/Harvard. The entire process takes about 10 minutes. Once the sample arrives in the lab, they will extract DNA from the sample 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 is highly encouraged for immediate family members to also participate, particularly both parents if possible and affected siblings. Study participants can be informed about their sequencing results through their physician. 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!

    To participate or get more information, visit our website at: https://www.kahlelab.com/join-study

    If you have any additional questions you can also email us at:


    For interested patients or families, the research staff will then provide more information including consent documents and further instructions.

    Additional Information

    We have already discovered multiple genes for Hydrocephalus and various other conditions (see our publications at: https://www.kahlelab.com/2022) and we are excited to identify many more.