ESR1: Identification of the gene networks that modulate ABCA4 expression
Partner
Telethon Institute of Genetics and Medicine, Naples, Italy (www.telethon.it; www.tigem.it) Supervisor Prof. Dr. S. Banfi |
Karla Alejandra Ruiz-Ceja
MSc in Genomic Medicine particularly interested in working towards a better understanding of inherited diseases in patients. I decided to pursue a career in genomics as I am keen to uncover novel molecular mechanisms involved in diseases and find new strategies for diagnosis and treatment. Looking to specialize and develop professionally in the bioinformatics, genomics, and transcriptomics fields for disease variant identification and interpretation that can help to develop novel therapeutic approaches. Currently, I am the Genomics and Bioinformatics Projects manager of Winter Genomics, and I am working to oncome these fields to the Mexican population. |
Abstract
We have recently generated a comprehensive mRNA and microRNA (miRNAs) transcriptome of the human retina and have acquired expertise in co&expression analysis. Here, ESR1 will capitalise on these resources to gain insight into the organisation of the ABCA4 transcriptional unit and into the dissection of the gene networks that participate in the modulation of the expression and function of ABCA4 in human retina. ESR1 will further define the genomic organisation of the ABCA4 gene using our vast RNA&seq dataset to identify and validate the presence of alternative transcript variants. By integrating already available and newly&generated transcriptomics data carried out both in human and in mouse, ESR1 will reconstruct the transcriptional gene networks that modulate ABCA4 expression in photoreceptors in both physiological and pathological conditions. ESR1 will pay particular attention to the contribution of miRNAs and will combine target predictions with our data on miRNA expression in the retina to select candidate miRNAs predicted to regulate ABCA4 and validate their biological relevance using in vitro and in vivo assays.
We have recently generated a comprehensive mRNA and microRNA (miRNAs) transcriptome of the human retina and have acquired expertise in co&expression analysis. Here, ESR1 will capitalise on these resources to gain insight into the organisation of the ABCA4 transcriptional unit and into the dissection of the gene networks that participate in the modulation of the expression and function of ABCA4 in human retina. ESR1 will further define the genomic organisation of the ABCA4 gene using our vast RNA&seq dataset to identify and validate the presence of alternative transcript variants. By integrating already available and newly&generated transcriptomics data carried out both in human and in mouse, ESR1 will reconstruct the transcriptional gene networks that modulate ABCA4 expression in photoreceptors in both physiological and pathological conditions. ESR1 will pay particular attention to the contribution of miRNAs and will combine target predictions with our data on miRNA expression in the retina to select candidate miRNAs predicted to regulate ABCA4 and validate their biological relevance using in vitro and in vivo assays.
