Dr. Shannon Boye’s lab currently focuses heavily on three areas of research. (1) Developing a treatment for GUCY2D Leber congenital amaurosis (LCA1)- Her lab has demonstrated the ability to restore retinal function and visually-guided behavior and preserve retinal structure in several animal models of this devastating early-onset retinal dystrophy. Dr. Boye is now moving beyond this proof-of-concept work to develop a clinical-grade AAV vector with which to perform safety studies. Dr. Boye and her collaborators are hopeful that this treatment will be applied to patients within two years. (2) Optimizing AAV vectors to target genes to photoreceptors following intravitreal injection- Because most retinal degenerations are caused by mutations in photoreceptor-specific genes, there is a great need to develop photoreceptor-targeted gene therapies. Of equal importance is the need to develop an injection procedure which is less invasive than the state of the art (subretinal injection), particularly when an underlying genetic defect leads to a degenerative process and a fragile retina prone to further damage upon surgically induced retinal detachment. Using both rational mutagenesis and directed evolution techniques, the Boye lab seeks to develop AAV vectors that possess an enhanced ability to transduce photoreceptor cells, notably foveal cones, following intravitreal delivery. (3) Expanding AAV vector technology- The Boye lab is actively developing novel, dual AAV vector platforms which are capable of delivering large transgenes. Once thought to be a limiting factor for AAV gene delivery, this technology will allow for the treatment of many diseases associated with mutations in large genes (>~5kb). Specific emphasis is placed on myosinVIIa Usher syndrome (USH1b), ABCA4 Stargardt’s disease and congenital stationary night blindness.
For more information about working in Dr. Boye’s lab, please contact her at email@example.com