Álvaro González Cid

Álvaro González Cid, from Toledo, Spain, holds a double bachelor’s degree in Biotechnology and Marine Science from the Catholic University of Valencia, getting extraordinary awards in both degrees. He continued his studies with a master’s degree in marine biotechnology (JMPMB), which included academic stays in Spain, France and Greece. Alvaro has completed internships in molecular biology in IRTA (Tarragona, Spain), IATS (Castellón, Spain), CIPF (Valencia, Spain), University of South Bohemia (Vodnany, Czech Republic), Agricultural University of Athens (Athens, Greece) and CABD (Seville, Spain). He completed his master thesis, funded by a Jae Intro Grant, under the guidance of Dr. Juan Ramón Martínez Morales. The thesis focused on a functional validation of newly identified nodes and cis-regulatory regions of the gene regulatory networks involved in the eye territories specification.

Allele-independent increase of protein translation for adIRD genes displaying haplo-insufficiency

IRD is at the forefront of gene therapy development. This PhD project aims to explore a novel therapeutic approach to increase protein expression of IRD disease genes that display haploinsufficiency by targeting cis-acting, non-coding elements. We previously performed both in silico and wet-lab analyses to identify cis-acting elements that modulate expression of IRD genes in the retina. The PhD student (DC8) will first functionally dissect novel cis-acting elements using in vitro reporter assays in cellular models. Next, DC8 will design and evaluate both antisense oligonucleotides and base editing tools to modulate cis-acting elements and as such increase protein expression in wild-type retinal models. Finally, the efficacy of the most promising therapeutic molecules will be assessed in patient-derived mutant cellular models and retinal organoids. This project will provide new scientific insights in IRD gene regulation by elucidating the function of novel cis-regulatory elements, and will evaluate a novel, mutation-independent therapeutic strategy to modulate IRD gene expression, which is highly valuable in view of the allelic heterogeneity that is typical for IRD.