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.
- MRI Images
- Consent Forms
- Adults (18 years and older)
- Children ages 13-17 years
- Children ages 7-12 years
- Children less than 7 years of age
- Fetal Samples
- Please contact the research team for information about providing DNA samples.
- Medical Records Collection
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.
We require signed consent forms for each individual who participates in our study. 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. Please make sure you communicate with the research coordinator before signing in order to make sure your questions are answered appropriately.
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.
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 joubert@uw.edu. If you need assistance obtaining your health information, please contact us.
Thank you for your participation!
