The development of effective treatments for both inherited and acquired blinding diseases remains slow, in large part due to an incomplete mechanistic understanding of eye biology and a lack of tools that provide comprehensive insight or deliver precise therapeutic effects.
In this seminar, Dr Tworak will highlight three interconnected areas of his research that combine multiomic technologies, novel in vitro and in vivo experimental systems, and gene therapy approaches to uncover therapeutically tractable mechanisms that sustain retinal health and function.
First, he will focus on the molecular biology of membrane frizzled-related protein (MFRP), a transmembrane protein expressed exclusively in the retinal pigment epithelium (RPE) of the vertebrate eye. Although mutations in the MFRP gene are known to cause nanophthalmia and retinal degeneration, its molecular function and role in ocular biology have remained poorly understood.
Next, Dr Tworak will discuss his work on light-dependent visual pigment recycling, exploring the potential of non-invasively boosting the output of this pathway to benefit patients with deficiencies in visual pigment regeneration. Finally, he will present ongoing efforts to develop a universal gene-editing strategy for monogenic inherited retinal diseases, designed to be applicable regardless of the specific pathogenic mutation in the target gene.
About the speaker
Aleksander Tworak, PhD, is an Assistant Researcher at the Brunson Center for Translational Vision Research in the Department of Ophthalmology and Visual Sciences at the University of California, Irvine. He earned his PhD in Biochemistry in 2014 from the Institute of Bioorganic Chemistry of the Polish Academy of Sciences in Poznań. He subsequently completed postdoctoral training in Prof. Figlerowicz’s laboratory, before moving to Case Western Reserve University in Cleveland and later to California to join Prof. Krzysztof Palczewski’s laboratory. Dr Tworak is principal investigator on competitive vision research grants from the Velux Stiftung and the Knights Templar Eye Foundation.
His research focuses on photoreceptor outer segment phagocytosis and subsequent recycling processes in retinal pigment epithelium (RPE) cells, as well as on the visual pigment regeneration pathway involving the retinal G protein–coupled receptor (RGR). Through this work, Dr Tworak aims to elucidate mechanisms that maintain retinal integrity and to translate these insights into therapeutic strategies to prevent blindness.
