Joubert Syndrome Mortality Matters Research Project
People with Joubert syndrome (JS) can have severe health problems that need to be caught early so that they can be treated. Unfortunately, we do not know very much about the causes of death in patients with JS. To improve the lives of patients with JS, Dr. Doherty and the JS and Related Disorders Foundation (JSRDF) started the JS Mortality Matters Research Project. The main goal is to learn about the causes of death in patients with JS. This data will be used to identify and treat problems earlier. Results will be published in medical journals and posted on the JSRDF and UW JS Research Program web sites. No identifiable data will be revealed without permission from the patient's family.
We recognize that research is not the top priority when a loved one dies, so we have simplified the process to respect your time. The study involves a brief phone call, filling out a short survey, and signing a form so we can request records from your medical team. Families can enroll any time after the patient's death; however, if a family would like to donate tissues for research, they should let the UW JS Research Program know as soon as possible. You can contact us at the phone numbers and email address listed below. Dr. Doherty or one of his staff will explain the study, provide consent forms, and describe tissue donation. The forms are also on this web site. If a family is not sure whether they want to donate tissues, they can ask their doctors to save tissues in case they want to donate at a later time (see http://depts.washington.edu/joubert/tissue.donation.php).
Families who do not wish to donate tissues can contact the UW JS Research Program when they feel comfortable.