I joined the National Heart and Lung Institute as a Post Doctoral Research Associate in the Autumn of 2018, shortly after completing my PhD in Medical Genetics at the University of British Columbia in Vancouver, Canada.
Under the supervision of Professor Elizabeth M. Simpson, my PhD work focused on the development of an AAV vectored gene therapy for aniridia, a rare ocular disorder caused by mutations in the gene PAX6. An aspect of this work lead to the development and characterization of MiniPromoters, molecular tools that direct the expression to specific tissues and even cell types of the body. Additionally, my work also involved a phenotypic characterization of a key aniridia mouse model, the Sey mouse. This characterization was important for determining how a mouse with aniridia mimics a human with aniridia, so that it could be used to develop new treatments for the disease.
As a Post Doctoral Research Associate in Professors Uta Griesenbach and Eric Alton’s Gene Therapy Group at the National Heart and Lung Institute, I am using lentiviral vectors to create new gene therapies for respiratory diseases. My research focuses on developing a gene augmentation therapy for α-1 antitrypsin deficiency, a disease caused by mutations to the SERPINA1 gene leading to chronic obstructive pulmonary disorder. A major component of my research deals with one of the major bottlenecks in gene therapy, maximizing the amount of protein made by the therapeutic gene once it enters a cell. Making our gene therapies more efficient in this way has the potential to improve the efficacy and the safety of gene therapies for α-1 antitrypsin deficiency among other diseases.
et al., 2021, Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Muller glial, and PAX6 cells, Gene Therapy, ISSN:0969-7128
et al., 2020, Germline CRISPR/Cas9-mediated gene editing prevents vision loss in a novel mousemodel of Aniridia., Molecular Therapy - Methods and Clinical Development, Vol:17, ISSN:2329-0501, Pages:478-490
et al., 2020, SINGLE-CELL ASSAYS FOR QUANTIFYING MRNA AND PROTEIN DURING CYSTIC FIBROSIS GENE THERAPY TRIALS, WILEY, Pages:S203-S203, ISSN:8755-6863
et al., 2020, MiniPromoters for rAAV Ophthalmic Gene Therapy: Novel PAX6 and Cone Promoters; Improved Muller Glia, Bipolar ON, and Brain Retinal Barrier Promoters; and Expanded Analysis of a Corneal Stroma Promoter, 23rd Annual Meeting of the American-Society-for-Gene-and-Cell-Therapy, CELL PRESS, Pages:145-145, ISSN:1525-0016
et al., 2020, Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia, 23rd Annual Meeting of the American-Society-for-Gene-and-Cell-Therapy, CELL PRESS, Pages:142-142, ISSN:1525-0016