We invite children and their families with a diagnosis of Joubert syndrome and related disorders (JSRD) to participate in our research studies. Related disorders may include 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 are interested in enrolling individuals with the molar tooth sign (MTS) present on MRI imaging. To determine whether your child/patient is eligible to participate, please send us a copy of the MRI for review. We prefer digital copies on CD, but films are also acceptable. Once the images have been received and 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.

  2. Consent Forms

    3. We request signed consent forms from 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 storing 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, whether affected with JSRD or an unaffected family member.

    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. Newborns (less than one month of age)
    6. Fetal Samples

  3. Sample Collection/Shipping Information

    4. 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. The 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 (DNA, tissue), please contact us.

  4. Medical Records Collection

    5. We are interested in receiving clinical information on individuals with JSRD 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 Joubert syndrome and how it affects children differently. Records can be sent with the MRI scan or samples or can be faxed to 206-221-5132, attention Dana Knutzen. If you need assistance obtaining your health information, please contact us.

    Thank you for your participation!