How to Participate in Research Studies

We invite individuals with hindbrain malformations or other neurodevelopmental disorders to participate in our research studies. We are particularly interested in Joubert syndrome (JS), rhombencephalosynapsis, Gómez-López-Hernández syndrome, pontine tegmental cap dysplasia, and Chudley-McCullough syndrome. A variety of labels are used for Joubert syndrome-related conditions, including Meckel syndrome, COACH syndrome, Senior-Løken syndrome, Oral-Facial-Digital syndrome type 6 (Varadi-Papp syndrome), Cogan syndrome, Dekaban-Arima syndrome, JS with nephronophthisis and/or retinal dystrophy, and JS with Leber congenital amaurosis. Please see the instructions below regarding how to participate in our studies. If you have questions regarding this process, please contact us.

  1. MRI Images
  2. We would be happy to review any MRI to determine whether a patient is eligible for our studies. We prefer digital copies on CD, but films are also acceptable. Once the images have been reviewed, we will contact you regarding eligibility. We recommend MRI review before samples are sent to the laboratory. If you need assistance obtaining your MRI scan, please contact us.

  3. Consent Forms
  4. We require signed consent forms for each individual who provides a sample to our laboratory. Our consenting process includes forms for actively participating in our study (Molecular Analysis of Genetic Neurodevelopmental Disorders) and forms for long-term storage of samples (Neurogenetics Laboratory Repository). The forms are age-dependent and include HIPAA forms for US residents only. Please see the outline below for clarification on which forms are needed for enrollment based on the age of the participant.

    For the non-HIPAA forms, the subject or their representative should circle "YES" or "NO" to each statement and sign and date on the last page.

    1. Adults (18 years and older)
    2. Children ages 13-17 years
    3. Children ages 7-12 years
    4. Children less than 7 years of age
    5. Fetal Samples

  5. Sample Collection/Shipping Information
  6. We prefer to establish permanent cell lines for DNA extraction and genetic studies to identify the genes that cause these conditions. We believe that permanent cell lines are the best way to have a continuous source of DNA for the future without the need for repeated blood draws. Cell lines also allow us to study the effects of genetic changes on the function of cells. Instructions for sending blood samples are available below. We recommend that you contact us before sending samples. Please send samples Monday-Thursday so we can receive them before the weekend. We will pay the cost for shipping blood samples and can provide blood drawing tubes up on request.

    Blood Sample Collection and Shipping Instructions

    Note: If you need to send a sample other than blood, please contact us.

  7. Medical Records Collection
  8. We are interested in receiving clinical information on individuals with neurodevelopmental disorders who participate in our research studies. Copies of clinical notes from Neurologists, Geneticists, Ophthalmologists (eye doctors), and other specialists can be helpful in understanding the natural history of these disorders and how they affect children differently. Records can be sent with the MRI scan or samples, faxed to 206-543-3184, attention Jennifer C. Dempsey, or e-mailed to If you need assistance obtaining your health information, please contact us.

    Thank you for your participation!

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