VANESSA MENDONÇA

Biography

In my first project (2014-2015), supported by an INCA studentship, I searched for mutations in the CDKN2A gene in patients with retinoblastoma. I acquired experience in DNA isolation from blood samples, PCR amplification, electrophoresis, Sanger DNA sequencing, and analysis for identifying mutations. During my second studentship (2015-2017), I studied 100 patients with retinoblastoma looking for RB1 alterations by MLPA. I acquired experience in all methodological steps, like sample dilutions, quantifications, analyses, and FISH validations. My findings, presented at local academic events, resulted in three awards. In 2017, I started my graduate studies, with an MSc project devised for analyzing, by NGS (with an Illumina HiSeq 2500 platform), 160 genes in paired blood and tumor samples from 24 patients with retinoblastoma. These involved DNA isolation from FFPE samples, qPCR for assessing DNA integrity and MLPA validation, library preparation for NGS, and analysis of gene panel data.