Simons Searchlight is a research registry for KANSL1 (the gene involved in Koolen-de Vries Syndrome) that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders.
By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples with leading geneticists and scientists around the world to use to improve the lives of people living with rare genetic neurodevelopmental disorders. Participation is open worldwide to people who speak English, Dutch, French, and Spanish, and more languages are coming soon.
People of any age with a Koolen-de Vries Syndrome diagnosis (either the 17q21.31 microdeletion or the KANSL1 mutation) diagnosis and their family members can sign up. Participants may have a diagnosis of autism, epilepsy, language impairments, or intellectual disability, but none of these is a requirement to join.
