Valerio Marino

During my studies as B.Sc. in Bioinformatics, M.Sc. in Bioinformatics and Medical Biotechnologies and Ph.D. in Biomolecular Medicine I learnt several biophysical and biochemical techniques as well as computational approaches to structural and systems biology. The integration of these techniques allowed me to investigate the role of Neuronal Calcium Sensor (NCS) proteins involved in the phototransduction cascade on a multiscale level, and to evaluate the molecular and functional effects of genetically inherited mutations ultimately associated to retinal dystrophies.

Currently, I am involved in a project entitled “Heavy metals and retinal degeneration: genes or environment?” funded by Fondo Sociale Europeo REACT EU – Programma Operativo Nazionale “Ricerca e innovazione” 2014-2020. The aim of this project is to investigate the effects of the accumulation of heavy metals in the retinal tissue, due to environmental pollution, on the structure/function relationship of Ca²⁺-sensor proteins involved in the phototransduction cascade.

Heavy metals such as Pb²⁺, Cd²⁺ and Hg²⁺ may indeed compete with intracellular Ca²⁺ and thus alter the homeostasis and signaling of second messenger cGMP, whose interplay with Ca²⁺ underlies the molecular mechanisms of phototransduction. Moreover, a potential connection between heavy metals and Age-Related Macular Degeneration has been recently identified, thus implying that, due to the progressive aging of the world population, heavy metal pollutants may represent an even bigger threat to sight in the near future. By taking into account the role of genetic background in retinal degeneration onset, both in terms of disease-associated missense mutations and polymorphisms in Ca²⁺-sensor proteins (such as Calmodulin, Recoverin and Guanylate Cyclase Activating proteins), this study also focuses on the identification of genotypes susceptible to heavy metals.

Finally, as most of the retinal degenerations have no treatment available, I am also involved in a project funded by Velux Stiftung (entitled “Liposomes as biocompatible carriers of genes, proteins and small molecules for retinal degeneration therapy”, in collaboration with Prof. Lorenzo Cangiano, University of Pisa) aimed at the optimization of liposome formulations for intraocular and systemic delivery of biologics to reduce and possibly revert the effects of disease-associated mutations heavy metals.