Principal Investigator:
Joyce Teng, MD, PhD
Stanford University
Overview:
This study will allow us to search for trends and relationships between participants’ specific genetic abnormalities and the types and severity of their health problems related to Gorlin Syndrome. We hope our study will provide a better understanding of this condition and will have an impact on the development of many new therapeutic strategies in Gorlin Syndrome. In this light, we plan to share the results of our study with many other clinicians who take care of children and adults with Gorlin Syndrome in the hopes of improving their care and promoting personalized medicine.
Enrollment Information:
This study will enroll individuals that have been formally diagnosed with Gorlin Syndrome and have genetic testing information available related to their diagnosis. The genetic testing information may be from the individuals themselves or from a closely related family member.
Those who choose to participate will be asked to:
1. Complete questionnaires pertaining to demographic information, clinical characteristics/ health problems, disease severity, genetic testing, and therapeutic management related to Gorlin Syndrome.
2. Provide genetic testing information related to their diagnosis of Gorlin Syndrome in the form of a printed report, scan, screenshot, photo, or by answering one of the questions on a questionnaire long form.
We believe that total participation time will take less than 30 minutes. We would highly appreciate your contribution to our study and would like to emphasize that each participant will have a considerable positive impact on our study.
What should you do if you are interested in participating?
Please email our Stanford medical student researcher, Nicolas Betancourt, and he will schedule a phone call to further discuss the study and answer any questions you may have.
Status:
This project is IRB approved and currently enrolling.