Enrico Maria Surace - Department of Translational Medical Sciences (DiSMeT), "Federico II" University, Napoli
Abstract: Transcriptional modulation is becoming increasingly important in various fields of gene therapy. In the context of transcriptional silencing, this can be achieved by targeting non-coding regulatory elements either in cis, through the use of mutagenesis with CRISPR/Cas9 or base editors (BE), or in trans through DNA-binding proteins linked to repressor domains such as epigenetic modifiers (CRISPR inhibition, CRISPRi). In our search for an effective treatment for RHODOPSIN-related retinitis pigmentosa (RHO-RP) - a severe and currently untreatable retinal degeneration - we have established a solid proof of principle using an unconventional approach. We have developed two complementary strategies to study cis- and trans-acting perturbation of RHO gene expression. Using these complementary cis- and trans-disruption methods, we have identified a compact regulatory unit that controls RHO expression through a novel gene regulatory code (Rosa Maritato et al., 2024). In turn, we are currently using this intrinsic regulatory syntax of RHO expression to optimise gene therapy for RHO-RP.
Biography: Enrico Maria Surace, is an Associate Professor of Medical Genetics at the Department of Translational Medical Sciences, "Federico II" University of Naples. With a background in veterinary medicine and molecular genetics, Dr. Surace trained in gene therapy at the University of Pennsylvania under Dr. Jean Bennett. He later led a research group at the Telethon Institute of Genetics and Medicine (TIGEM), contributing to the first gene therapy clinical trial for Leber Congenital Amaurosis, which led to the approval of Luxturna—the first gene therapy for an inherited retinal disorder.
Dr. Surace’s research focuses on innovative gene therapy strategies for inherited diseases of the retina and the central nervous system. He is a recipient of multiple European Research Council grants and has authored numerous high-impact publications. His work has been recognized with prestigious awards, including the Foundation Fighting Blindness Board of Directors Award.
