Jonathan D Cooper, PhDUnderstanding Batten Disease Pathogenesis

Presented At:
LabRoots - Neuroscience Virtual Event 2019

Presented By:
Jonathan Cooper, PhD - Professor of Pediatrics, Washington University School of Medicine, St Louis

Speaker Biography:
Dr. Cooper is a neuroscientist who has been studying the pathogenesis of Batten disease and other lysosomal storage disorders for more than 20 years. His lab is the leading international center for the morphological analysis of pathological changes in the NCLs. His lab has been involved in many international collaborations to study the efficacy of different pre-clinical interventions in these disorders, leading to several clinical trials and an approved treatment for CLN2 disease. He has not only extensively characterized multiple mouse and large animal models NCL, but also assessed the efficacy of a range of different experimental therapies, including neural stem cell grafts, gene therapy, enzyme replacement and small molecule approaches.

Webinar:
Understanding Batten Disease Pathogenesis

Webinar Abstract:
Batten disease or the Neuronal Ceroid Lipofuscinoses (NCLss) are each the result of inherited mutations that result in lysosomal dysfunction. Some of these disorders are due to deficiencies in lysosomal enzymes, while several others are the result of deficiencies in transmembrane proteins that are either directly or indirectly important for lysosomal function. An important step towards devising therapies for these fatal disorders is the characterization of animal models of NCL. These have been generated via gene manipulation or by identifying naturally occurring mutants that bear disease-causing mutations. These models have proved invaluable both for investigating disease mechanisms and testing how to deliver experimental therapies, and for assessing their efficacy.

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