Tiffany Cook, PhD

Associate Professor, Division of Pediatric Ophthalmology and Developmental Biology Cincinnati Children’s Hospital Medical Center

Research: “Understanding photoreceptor development – a blueprint for preventing retinal degeneration”

Brief Bio

Dr. Tiffany Cook is an Associate Professor in the Divisions of Pediatric Ophthalmology and Developmental Biology at Cincinnati Children’s Hospital Medical Center. Her research combines cellular, molecular, biochemical, and genetic approaches to understand normal eye development and how these processes are disrupted in disease states. Retinal degeneration is the leading cause of blindness, and the risk of retinal degeneration increases with age. Unfortunately, these diseases are generally not recognized in patients until irreversible vision loss has occurred, and few effective therapies exist. Therefore, it is essential that scientists establish a fast and effective genetic model system in order to uncover the pathways involved in normal photoreceptor development – such advances will lead to identifying genes that are affected in patients with retinal degenerative diseases, help develop useful diagnostic tools, and aid in developing therapies to prevent further vision loss.

Support from the E. Matilda Ziegler Foundation has been essential for enabling Dr. Cook to address questions related to photoreceptor development and maintenance. This research has significantly expanded our understanding that many of the same factors important for preventing retinal degeneration in humans have functional equivalents in the fruit fly, Drosophila melanogaster. For example, in humans, two related factors – OTX2 and CRX – are critical for the expression of several photoreceptor-specific genes, and mutations in these factors lead to eye diseases that including anophthalmia, LCA, RP, and CORD. Dr. Cook has shown that Drosophila equivalent of OTX2 and CRX, called Otd, is critical for building and maintaining properly functioning photoreceptors, also by regulating photoreceptor-specific gene expression. Even more importantly, she has recently shown that human OTX2 and CRX can replace Otd in the fly eye, providing concrete evidence that the photoreceptors in flies and humans rely on similar regulatory pathways. This now provides a powerful model system for performing large-scale genetic screens aimed at identifying the networks underlying visual system develop and maintenance. Ultimately, such studies will lead to designing more effective diagnostic and therapeutic tools for retinal degenerative diseases. Therefore, the money provided from the Ziegler Foundation’s support of Dr. Cook’s research has helped to establish a critical framework that will continue to impact vision outcome for patients suffering from a variety of genetic disorders.