We are interested in how gene dosage imbalance causes human neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability. Understanding these disorders on molecular, cellular, neural circuit, and behavioral levels will provide therapeutic avenues and ultimately improve patients’ quality of life. We model gene dosage imbalance in a pair of syndromic ASDs: Smith−Magenis Syndrome (SMS), caused by loss of a Retinoic Acid Induced 1 (RAI1), and Potocki−Lupski Syndrome (PTLS), caused by gain of RAI1.
RAI1 is a chromatin-interacting protein that regulates many genes involved in neural circuit assembly. We are also interested in its interacting partner TCF20, which is mutated in patients who suffer from intellectual disability and ASDs.