Studies of rare genetic disorders with known etiologies can serve as models to understand the cause of more common disease. The 22q11.2 deletion syndrome (22q11.2DS; also known as DiGeorge/velo-cardio-facial syndrome) occurs in 1/4000 live births and affected individuals have medical, cognitive and behavioral problems, which range from mild to severe. Our interests are to use human subjects and animal models to understand how genes on the 22q11.2 region and elsewhere in the genome affect phenotype. One project is to understand brain sensory processing to eventually link to molecular mechanisms, and another is to understand the genetics of why some affected individuals have severe, while others have mild presentations of medical and cognitive phenotypes. Both projects utilize the Montefiore-Einstein Regional Center for 22q11.2 Deletion Syndrome, in which interdisciplinary care is provided to local populations in the Bronx or New York City.