Samuel Santamaria

I hold a Bachelor’s degree in Biology and a Master’s degree in Bioinformatics. My career within the bioinformatics field started during my last year of the degree when I joined an evolutionary research group at the University of Barcelona. There, I studied the evolution of tRNA genes and their disposition in clusters. That experience led me to pursue my master’s degree, where I did my thesis in a startup focused on genomics and liquid biopsy space using NGS. My main focus was the detection of gene fusions in the RNA of plasma samples.

Before beginning my PhD, I worked as a Bioinformatician for the AIRLAB research group from ISGlobal Barcelona, in which I performed metagenomics analysis such as taxonomic classification or MAG (Metagenome-Assembled Genomes) generation on diverse air samples.

Definition of transcriptional units of adIRD genes in human retina, RPE, PPCs and retinal organoids using long-read sequencing

We have significantly contributed to the initial reconstruction of the architecture of the human retinal transcriptome and miRNome, in physiological conditions. By capitalizing on the above resources and competence, the PhD student (DC4) will characterize the transcriptional units of Inherited Retinal Disease (IRD) genes in the human retina using an integrated approach, including both meta-analysis of already available data and generation of new transcriptome datasets from retina samples of both unaffected donors and retinal organoids generated from patient-derived iPSCs. Furthermore, DC4 will carry out co-expression analysis efforts using bioinformatic tools to reconstruct the gene networks that underlie the expression of IRD genes. Particular attention will be given to the identification and characterization of noncoding RNAs such as microRNAs and long noncoding RNAs that are significantly co-expressed with IRD genes. The activities of DC4 will aim at enhancing our understanding of the molecular basis of IRDs and at providing novel insights into the composition of the integrated gene networks that control retinal function.