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22q11.2 deletion syndrome
22q11.2 deletion syndrome
Heterozygous deletion of a 3Mb region of chromosome 22 spanning 45 protein coding genes (22q11.2 deletion syndrome, 22qDS) greatly increases risk for multiple neurodevelopmental disorders including Schizophrenia and Autism. Leveraging zebrafish high throughput behavioral screening, we identified roles for multiple genes within the deleted region in sensorimotor and social behaviors. We are currently pursuing these genes to identify molecular and cellular mechanisms underlying these observed phenotypes.
Mitochondrial dysfunction in neuropsychiatric disorders
Mitochondrial dysfunction in neuropsychiatric disorders
Through our work on 22qDS, we identified mitochondrial proteins encoded within the deleted region as having key roles within neural stem and progenitor cells (NSPCs). We are investigating how mitochondrial dysfunction in the context of 22qDS impacts neurodevelopment and neurogenesis and how we might ultimately reverse abnormalities.
Investigating other variants
Investigating other variants
Beyond 22qDS, we have ongoing projects focused on other rare and/or common genetic variants associated with neuropsychiatric disorders. As a member of Penn's Autism Spectrum Program of Excellence (ASPE), in collaborative, cross disciplinary studies, we are currently investigating genes that have been identified in a cohort of individuals with Autism to identify biological mechanisms and novel therapeutic strategies.
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