Dr. Periasamy Sundaresan
ICMR Emeritus Scientist
Aravind Medical Research Foundation
Aravind Eye Hospital, Madurai, India
Molecular Genetics of Inherited Eye Diseases and Translational Advances
10/12/2025 – ore 12:00
Abstract:
Many types of eye diseases are inherited, and most cases of blindness in infants are caused by genetic disorders such as congenital cataract, retinal degeneration, glaucoma, and ocular malformations. In adults, the leading causes of blindness include age-related macular degeneration, cataract, and glaucoma. Among the approximately 19,000 human genes, more than 600 are associated with ocular disorders. Understanding the genetic basis of these diseases has become increasingly important for accurate molecular diagnosis and the development of novel, genotype-specific treatments.
Over the past two decades, our laboratory has extensively investigated the molecular genetics of various eye diseases in the Indian population. We have identified candidate genes for Congenital Hereditary Endothelial Dystrophy (CHED), Primary Angle Closure Glaucoma (PACG), and Pseudoexfoliation (PXF) using next-generation sequencing technologies. In addition, we have conducted gene expression and functional studies using the zebrafish model for several ocular disorders. Our efforts also include providing high-quality genetic testing for selected inherited eye diseases.
Currently, our research focuses on mitochondrial disorders and inherited retinal dystrophies, aiming to unravel the molecular mechanisms underlying disease pathogenesis. Our laboratory also offers genetic counseling, guided by moral and ethical principles, to support individuals and families at risk. Furthermore, we are working towards establishing a gene registry of the visual system specific to the Indian ethnic background.
During my talk I will discuss in detail how our fundamental discoveries are being translated from bench to bedside, bridging molecular research with clinical application.
Per ulteriori informazioni scrivere a seminari.irib@irib.cnr.it
