USH Talks: Gene Therapy for MYO7A USH1B
June 27, 2017
Shannon Boye, PhD
This presentation summarizes efforts to develop a dual AAV vector-based gene therapy for Myosin7a Usher syndrome (USH1B). The drawbacks of USH1B mouse models and a rationale for testing these vectors in a more clinically relevant species are discussed.
Shannon E. Boye, Ph.D.
The focus of my research is developing viral vector-based gene replacement strategies for the treatment of inherited ocular disease. My current focus areas are 1) to develop dual AAV vector platforms that are capable of delivering large transgenes (> 5kb), 2) to develop AAV-based gene therapy approaches for delivery of genes to the outer retina (notably foveal cones) following intravitreal delivery, 3) to develop an Adeno associated virus (AAV)-based gene therapy for treatment of GUCY2D-Leber congenital amaurosis-1 (LCA1), and 4) to develop gene editing-based treatments (AAV-Crispr/Cas9) for inherited retinal disease. Since 2010, I have given over 45 invited lectures both within and outside the USA, including Distinguished Lecture seminars and symposia presentations at international conferences. I have secured twelve provisional patents on technology emanating from my research program and am actively funded by the NIH, private foundations and pharma. I perform grant review for various national and international foundations, serve on the editorial advisory board for multiple journals and act as an ad hoc peer reviewer for many more. I have published 49 manuscripts related to gene therapy, have participated in the NIH’s Office of Science Policy/Office of Biotechnology Activities “Gene Therapy: Charting a Future Course”, and am the recipient of multiple awards including the ARVO Foundation/Merck Innovative Ophthalmology Research Award in Gene Therapy and Eye Disease Prize, the Foundation Fighting Blindness’s Board of Director’s Award, the MOMS for Sight Visionary Award, and the University of Florida’s Exemplary Teacher Award. Outside of my research, I am actively involved in the teaching mission of my institute’s College of Medicine and am passionate about patient outreach/education outside the classroom. When I’m not in the lab, I enjoy spending time with my husband (who is also my partner in developing gene therapies!) and two young children.