Donna Martin Lab

Laboratory of Developmental Disorders of the Nervous System


Our laboratory research focuses on the genetic basis of nervous system function in relation to disorders of human development. Specifically, we focus on genes predicted to influence neuronal differentiation and migration. We are studying the the chromodomain gene Chd7 in the developing central nervous system. 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 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.