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ESR1: Identification of the gene networks that modulate ABCA4 expression

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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.  ​
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This project has received funding from the European Union's Horizon 2020 research and innovation programme Marie Sklodowska-Curie Innovative Training Networks (ITN) under grant No.
813490
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