Our research group is passionate about advancing our understanding of inherited retinal diseases and the role of retinal pigment epithelial cells in order to find new treatments and save vision.
Many forms of retinal degeneration, including inherited retinal diseases (IRDs) and age-related macular degeneration (AMD), cause irreversible blindness and are largely untreatable. Our lab uses cell culture and animal models of IRDs and AMD to understand these diseases at the molecular level and identify therapeutic targets. Many of our projects focus on dysfunction of retinal pigment epithelial (RPE) cells. We use a variety of models and techniques, including induced pluripotent stem cells (iPSCs), CRISPR/Cas-9 gene editing, viral vector gene delivery, and mouse models.
Dr. Fahim also has a clinical practice as an IRD specialist and participates in IRD clinical trials, which informs her research questions for maximum translational impact and also supports her research through patient-derived iPSCs. Our mission is to advance understanding of the molecular pathways leading to retinal degeneration in IRDs and to identify therapeutic targets for these blinding diseases.
Assistant Professor of Ophthalmology and Visual Sciences
The first FDA-approved gene therapy for any disease was approved in 2017 to treat an inherited retinal disease caused by mutations in the gene RPE65, demonstrating the success of translating studies of molecular defects into vision-saving treatments. Many other clinical trials have followed. However, there are no treatments for the majority of IRDs, including choroideremia. IRDs frequently rob patients of vision early in life, limiting their independence and greatly impacting their quality of life. The missing link between RPE cell dysfunction and retinal and choroidal degeneration has been a significant barrier to developing new treatments.
Our research will identify specific defects in RPE cell function and the effects on the neighboring retina and choroid. The impact will be to identify targets for future therapies based on a detailed understanding of disease mechanism. Donor funds have impacted this work significantly and played an instrumental role in accelerating our research so we could obtain our first NIH R01 grant. To continue our momentum to save vision in these blinding diseases, we invite those who are inspired to join us in our mission.
