Donna M. Martin, M.D., Ph.D.

Our laboratory research focuses on the genetic basis of central 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 roles of a transcription factor, Pitx2, and a novel chromodomain gene, Chd7, in the developing central nervous system. Pitx2 was originally identified as an important regulator of early embryonic development. Humans with mutations in PITX2 have Rieger syndrome, a genetic disorder with eye, tooth, and umbilical defects, and variable cardiac, pituitary, and brain dysfunction including mental retardation and hydrocephalus. Pitx2 is expressed in discrete regions of the brain, and is crucial for determining how these neurons become organized into functional nuclei. Chd7 is a chromodomain gene 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 Pitx2 or Chd7 disrupts organ development. We also participate in collaborative studies to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. These studies have important implications for understanding the mechanisms involved in central nervous system and other organ development, and for improving the diagnosis and treatment of these developmental disorders.