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.