When you participate, your experiences help the medical community to understand your rare genetic disorder faster. We track health and development over time to help answer questions about the future of people with these rare disorders, and make it easy to connect you to researchers who want to include you or your child in research studies and clinical trials. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders.
What are the goals of the study?
Simons Searchlight is an international research program with the goal of accelerating science and improving lives for people with rare genetic neurodevelopmental disorders. We study over 150 genes that cause rare neurodevelopmental disorders, and our list is always expanding. You or your family member must have a genetic diagnosis of one of these conditions in order to join. The study is international, and families can participate in several languages. You can find our gene list and list of languages at SimonsSearchlight.org.
What will happen during the visit or online?
Simons Searchlight collects family, medical, developmental and behavioral information through online surveys and phone interviews with families and individuals. Optional blood collection is performed either remotely or at in-person patient organization conferences. Upload your clinical genetic results report, complete initial online surveys, provide our genetic counselors medical history information over the phone, provide an optional blood draw, and update us every year.
How will this help families?
Joining such a community enables families to find and engage with others with the same genetic condition, as well as providing opportunities to connect with researchers and participate in studies aimed at bettering our understanding of these disorders and, in some cases, clinical trials to advance supports and treatments.