Primary cilia are increasingly recognized as essential sensory and signaling organelles that regulate tissue development, homeostasis, and human health. In the eye, cilia play a central role in visual function, and defects in ciliary components underlie a broad range of retinal diseases collectively known as ciliopathies. While much of the field has focused on the specialized cilia of photoreceptors, growing evidence points to an important role for cilia in other ocular cell types.
In this seminar, Prof. Dr. Helen May-Simera will present recent findings demonstrating that primary cilia in the retinal pigment epithelium (RPE), a key tissue supporting photoreceptors, are essential for maintaining retinal integrity. Using an RPE-specific IFT20 knockout mouse model, her team has shown that loss of cilia in the RPE impairs epithelial function, disrupts homeostatic pathways, and ultimately leads to photoreceptor degeneration and vision loss. Transcriptomic analyses further reveal changes in pathways linked to the visual cycle, phagocytosis, and epithelial maintenance.
Together, these findings broaden the current understanding of retinal ciliopathies by establishing the RPE as an active, cilia-dependent contributor to disease progression. Exploring ciliary function across multiple retinal cell types not only deepens insight into disease mechanisms but also opens new possibilities for therapeutic intervention in inherited retinal degeneration.
About the speaker
Prof. Dr. Helen May-Simera is a tenured Professor at the Institute of Molecular Physiology, Faculty of Biology, Johannes Gutenberg University Mainz, Germany. She studied Biochemistry at the University of Bath and earned her PhD in Molecular Biology from University College London under the supervision of Prof. Phil Beales. Following postdoctoral training at the NIH’s National Institute on Deafness and Other Communication Disorders (NIDCD) and a Senior Research Fellowship at the National Eye Institute (NEI), she established her independent research career in Mainz, where she has held a professorship since 2015.
Her research focuses on the molecular mechanisms of cilia function and dysfunction, with particular emphasis on retinal degeneration and renal phenotypes in Bardet-Biedl syndrome. She has made important contributions to understanding how ciliary proteins regulate extracellular vesicle release and tissue homeostasis. Her work has been published in leading journals including Nature Communications, PLOS Biology, Current Biology, and Cell Reports.
In addition to her research, Prof. Dr. May-Simera is actively involved in academic leadership, patient engagement, and scientific outreach. She serves on multiple university committees and contributes to research training and equality initiatives. She has supervised numerous doctoral, postdoctoral, and undergraduate researchers, and her achievements have been recognized with several prestigious awards, including the Sofja Kovalevskaja Award and the JGU Teaching Award.
