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Shannon Boye, PhD - "Gene Therapy for Photoreceptor-Mediated Disease"

Associate Professor, Department of Molecular Genetics and Microbiology, University of Florida, USA
When Sep 19, 2019
from 12:00 PM to 01:00 PM
Where Tigem, Vesuvius Auditorium
Contact Name
Contact Phone 081-19230659
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Abstract
Significant progress has been made in the clinical application of AAV-based gene replacement therapies to treat a variety of inherited retinal diseases. One such condition, Leber congenital amaurosis (LCA1), is caused by recessive, loss-of-function mutations in GUCY2D. The first half of my seminar will focus on the IND-enabling studies we have conducted to lay the groundwork for phase I/II clinical trials to treat this disease (anticipated to begin this year). Dominant mutations in GUCY2D are the leading cause of a different condition- autosomal dominant cone rod dystrophy (CORD6). Gene replacement is insufficient for treating CORD6, because disruption of the mutant GUCY2D allele responsible for dysfunction must be achieved. The second half of my seminar will focus on AAV-CRISPR/Cas9- based approaches for the treatment of CORD6. Insights gained in both studies will inform the broader application of AAV and CRISPR/Cas9 for the treatment of photoreceptor-mediated inherited retinal disease. 

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