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Donna Martin

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Primary Appointment: Pediatrics-Genetics
Primary PIBS Dept.: Human Genetics
Other PIBS Depts.: Neuroscience
PubMed Name: Martin DM
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  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 formation, differentiation and migration. We are studying the roles of a 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, with a specific focus on organs necessary for sensory processing (hearing, balance) and cognition (brain). We also have several human genetics projects in which we use high throughput sequencing approaches to test candidate genes important in autism and intellectual disability. 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 developmental brain disorders in humans.