Sabrina Carrella, PhD

Telethon Institute of Genetics and Medicine (TIGEM)-Fondazione Telethon
ITALY

I am a research associate at Telethon Institute of Genetics and Medicine (TIGEM) and Università degli studi della Campania “Luigi Vanvitelli”, Department of Precision Medicine. In my working career I focus my attention on the study of eye, and in particular retina, development and function in physiological and pathological conditions. Specifically, my research interest regarded the role of microRNAs during eye development and their possible involvement or therapeutic use in eye diseases. A number of miRNAs show restricted expression patterns in the developing lens, retinal pigment epithelium (RPE), neural retina, and other ocular tissues, which suggests their potential relevance to eye development and function. The general importance of this class of molecule in eye development was supported by effects observed in mice after genetic inactivation of Dicer, a key enzyme of miRNA biogenesis. During my Doctoral studies in Molecular Medicine, I have actively contributed to the identification and characterization of the roles of specific microRNAs in vertebrate eye development, in the regulation of axon growth during optic nerve formation and in photoreceptor dystrophy. I have also contributed to the identification and characterization of alterations in miRNAs sequence and their contribution to the pathogenesis of eye disease in humans. My Post-Doctoral studies aim at the identification of therapeutic strategies for retinal diseases by focusing the attention on miRNAs whose activity could regulate key genes involved in neuronal survival pathways and could be exploited as therapeutic targets. I have recently identified two miRNAs able to regulate key genes involved in mitochondrial biogenesis and function and involved in the global regulation of mitochondrial turnover in the central nervous system. Modulation of these miRNAs activity strongly protects neurons from cell death and significantly ameliorates the disease phenotype in models of retinal diseases. This work paves the way for novel gene-independent therapeutic approach for a wide-range of neurodegenerative diseases with mitochondrial dysfunction. I am also an inventor, with my collaborators, of the miR-181a/b inhibitor approaches patented with the title "mir-181 inhibitors and uses thereof" (registered in 20th of April, 2018).

First published on: November 17, 2020

Last modified on: November 28, 2022