EAC 2026 - Day 2: #19. Pax6 Haploinsufficiency & its impact on Cortical & Neuroendocrine Function

This is session 7 of the 8th European Aniridia Conference 2026, held in Sofia, Bulgaria, from April 17th to April 19th Session 7: The Retina and Beyond Speaker: Ass. Prof. Jim Lauderdale, Director of Neurocience, Associate Professor of Cellular Biology, Aniridia North America (ANA), University of Georgia, Athens, Georgia, USA Biopic: Professor James D. Lauderdale, from the Department of Cellular Biology at the University of Georgia (United States), is a developmental neurobiologist whose research examines how the eye and visual system form, function, and degenerate, with a particular focus on mechanisms underlying aniridia and related neurodevelopmental phenotypes. His laboratory integrates genetics, developmental biology, and genomics to define how gene regulatory networks shape the cornea, retina, and visual brain. Dr Lauderdale leads collaborative basic and translational research centred on PAX6, using patient‑derived cells, retinal organoids, animal models, and computational approaches to uncover disease mechanisms and therapeutic targets. Current efforts focus on foveal development and the pathogenesis and treatment of aniridia‑associated keratopathy. Dr Lauderdale is Chairperson of the Scientific Committee of Aniridia North America (ANA) and an invited expert on the Scientific Committee of Aniridia Europe. Title of presentation: Beyond the Eye: Pax6 Haploinsufficiency and Its Impact on Cortical and Neuroendocrine Function Abstract of presentation: PAX6 is a master regulator of eye and brain development, and heterozygous loss‑of‑function mutations are the well‑established cause of aniridia. However, PAX6 haploinsufficiency produces neurological effects that extend beyond the visual system. Individuals with aniridia frequently exhibit deficits in olfaction, auditory processing, and higher‑order sensory integration, reflecting broader roles for PAX6 in forebrain development. During corticogenesis, PAX6 regulates progenitor identity, neuronal differentiation, and cortical arealization, with lasting consequences for circuit organisation and sensory processing. In addition, PAX6 is required for normal development of hypothalamic and pituitary lineages, implicating altered neuroendocrine regulation in some affected individuals. This talk will review current evidence linking PAX6 haploinsufficiency to cortical and neuroendocrine phenotypes, highlighting its pleiotropic influence on human neurodevelopment. http://www.aniridiaconference.org | http://www.aniridia.eu