PhD in Biomedicine – Faculty of Medicine, University of Porto, who developed his PhD workplan at the i3S – Instituto de Investigação e Inovação em Saúde, under the supervision of Professor Carla Oliveira. Since 2018, I have devoted my research to the identification of the missing heritability of Hereditary Diffuse Gastric Cancer (HDGC), a deadly gastric cancer tumour-risk syndrome, as a member of the European project "Solving the unsolved Rare Diseases” (www.solve-rd.eu). The work I performed so far has been selected for 15 oral presentations in international conferences worldwide, and I was awarded twice for delivering the best oral presentation. Moreover, I have contributed to 18 peer-reviewed articles in international journals, 6 of them as first-author.
Currently, in parallel to Solve-RD and in collaboration with the University of Otago, Dunedin, New Zealand, where I spent 10 months as a visiting PhD student, I am engaged in a project entitled “a worldwide approach to improve management for families with hereditary diffuse gastric cancer (HDGC)”. This project aims to shed light into many of the yet unanswered questions for this tumor-risk syndrome following our original article recently published in The Lancet Oncology by Garcia-Pelaez et al. and performed under the umbrella of the ERN-GENTURIS. This work involved the coordination of 29 institutions from 10 European countries and it was entitled ‘Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes’, which summarizes part of my PhD work.