CASZ1 Related Disorders

Researchers are conducting an international observational study called Simons Searchlight to learn more about families affected by rare genetic changes linked to neurodevelopmental disorders and features of autism. The study aims to improve clinical care and treatments by collecting detailed medical, behavioral, learning, and developmental information from people with these genetic variants. Participation is available to English and Spanish-speaking families worldwide, supporting remote involvement. Participants provide medical and developmental data through online or phone-based formats and may donate blood or saliva samples for genetic analysis. These samples are connected with the collected data to better understand how specific gene changes impact individuals. Personal identifying information is removed to protect privacy, and qualified researchers worldwide can access the anonymized data. During the study, participants share baseline information over about one month, with ongoing data collection occurring regularly to track changes over time. This includes medical histories, behavioral assessments, and developmental progress. The study is designed to gather comprehensive, long-term information to support research into targeted treatments and improved care for individuals with genetic and developmental differences.