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Cheryl Shoubridge


Cheryl Shoubridge

University of Adelaide

Biography

Cheryl Shoubridge is an Associate Professor of Human Genetics with a research focus on investigating the molecular pathogenesis underpinning genetic causes of intellectual disability and seizures. Her research utilizes numerous experimental models relevant to the associated clinical phenotypes, including rodent models, primary neurons in culture through to clinical specimens.  Currently, A/Prof Shoubridge is working in the pre-clinical setting on identifying and validating treatments to improve disease outcomes. Her expertise in genetics, neuroscience and molecular biology underpin her more recent focus on investigating the pathogenic mechanisms contributing to disease outcomes of intellectual disability and seizures due to deficits in synaptic plasticity.

 

Abstract

Abstract : Iqsec2 knockout mice recapitulate the intellectual disability and epilepsy phenotype of patients with loss-of-function mutations