VANESSA MENDONÇA

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. My findings showed pathogenic mutations in 63 genes, including 103 mutations not previously described. I also analyzed CNV in the 160 genes of the panel and the pathways in which these altered genes participated. I presented my MSc dissertation, approved with maximum score (100/100), and graduated in June 2019.

EDUCATION

BSc in Biomedicine (Federal University of the State of Rio de Janeiro) and MSc in Oncology (National Cancer Institute of Brazil - INCA).

RESEARCH INTERESTS

Molecular Biology, Genetics, Genomics, Oncology.