Using Patient Derived Induced Pluripotent Stem Cells to Model and Treat Inherited Retinal Disease

Dr. Budd A. Tucker, PhD University of Iowa

Abstract: Inherited retinal degenerative disorders, ranging from relatively common conditions such as Stargardt disease to rare forms of retinitis pigmentosa, are extraordinarily genetically heterogeneous. To date more than 100 different genes and thousands of different disease-causing mutations have been identified. The unifying feature of these conditions is the ultimate death of the light sensing photoreceptor cells of the outer neural retina. As the retina has little intrinsic regenerative capacity, photoreceptor cell death results in irreversible vision loss. Fortunately, scientific progress in the fields of molecular genetics, genome editing, stem cell biology and tissue engineering have given us reason to be optimistic for the future of patients who receive an inherited retinal degeneration diagnosis. In this talk I will discuss work from our group focused on the use of patient derived induced pluripotent stem cells to molecularly diagnosis, study and treat patients with inherited retinal degeneration. Specifically, I will provide examples of how we are using patient iPSCs to evaluate the pathogenicity of novel genetic variations and develop a restorative autologous photoreceptor cell replacement approach.

Biography: I was born and raised in a small fishing town on the west coast of Newfoundland’s Great Northern Peninsula, in northeast Canada. My formative years were spent on my father’s commercial fishing boats, where during the summer we fished the waters of the North Atlantic for Cod, Shrimp, Ocean Perch, and Greenland Halibut. In the fall of 1996, I attended Sir Wilfred Grenfell College, where I became the first person in my nuclear family to obtain a college degree. At the age of 23, I left commercial fishing behind and attended graduate school full time. In 2006, I obtained my Ph.D. degree in neuroscience under the mentorship of Dr.

Karen M. Mearow at Memorial University of Newfoundland, School of Medicine. I subsequently moved to Boston to complete post-doctoral training under the mentorship of Dr. Michael J. Young at the Schepens Eye Research Institute, Harvard Medical School, where in 2009, I was promoted to the rank of faculty.

In 2010, I joined the Institute for Vision Research and the Department of Ophthalmology and Visual Science at the University of Iowa, where I am currently a full professor and hold the Ruby Endowed Chair of Regenerative Ophthalmology. I direct both the Ruby Retinal Engineering Laboratory, which is focused on development of novel tissue engineering and robotic strategies for production of autologous photoreceptor cell grafts, and the Dezii Translational Vision Research Facility, a cGMP manufacturing suite with ISO class 5 capabilities dedicated to production of gene and cell-based therapeutics. The major focus of my laboratory is to combine state-of-the-art patient-specific induced pluripotent stem cell, CRISPR based genome editing and tissue engineering technologies to develop affordable gene and autologous photoreceptor cell replacement strategies for the treatment of patients with inherited retinal degenerative blindness.

Hosted by Dr. Molly Shoichet

Snacks and refreshments will be served