We are studying the chromodomain gene CHD7 in the inner ear and central nervous system. Specifically, we focus on genes predicted to influence neuronal differentiation and migration.

CHD7 is mutated in CHARGE syndrome, a congenital anomaly condition affecting the brain, eyes, ears, heart, and craniofacial structures. We use genetic approaches in mice, mouse cells, and human cells to study how loss of CHD7 disrupts organ development.

We also participate in collaborative studies to apply next-generation sequencing to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. These studies have important implications for diagnosing and treating developmental disorders ranging from hearing loss and anosmia to autism and intellectual disability.