Accurate diagnosis is the first critical step in advancing research and improving care for individuals with rare neurodevelopmental disorders. Genetic diagnoses help families understand the cause of disease, connect with appropriate clinical care and patient communities, and enable participation in research that can accelerate therapy development.

COMBINEDBrain supports diagnostic initiatives that expand access to genetic testing and improve interpretation of rare variants. By bringing together patient advocacy organizations, clinicians, sequencing laboratories, and researchers, these programs help families obtain answers while integrating diagnostic data into collaborative research efforts that support discovery, natural history studies, and future clinical trials.

Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing) is a national initiative designed to accelerate the diagnosis of rare genetic neurodevelopmental disorders in infants. The project expands access to early genetic testing and clinical evaluation to identify underlying genetic conditions sooner, helping families obtain answers earlier and enabling more timely clinical care and research participation. By reducing the time to diagnosis, Project FIND-OUT also aims to improve opportunities for early intervention and participation in emerging therapeutic research.

For more information, please contact ProjectFINDOUT@combinedbrain.org or visit the FINDOUT website.