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Gene Dosage Imbalance in Neurodevelopmental Disorders

Developmental brain disorders (DBD), such as autism and schizophrenia, are behaviorally-defined conditions for which there are numerous underlying genetic causes. Our project will analyze the electronic health records (EHR) of more than 100,000 research-consented patients to examine how people with and without DBD-related gene changes differ in terms of diagnoses, medical problems, and use of healthcare services. We aim to return DBD-related gene changes to the estimated 4,000 affected individuals in this group of 100,000 patients. We will also directly evaluate ~1,500 of these individuals with DBD-related gene changes and their family members in order to better understand how genetic differences affect brain development and functioning. These results will lay the groundwork for future breakthroughs in the identification and treatment of DBD.
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