Portuguese Society of Human Genetics recognizes i3S research work

Two young i3S researchers, Celina São José and Silvana Lobo, from the “Expression Regulation in Cancer” group, were respectively awarded the ESHG Fellowship 2022 and the Professor Amândio Tavares award at the 26th Annual Meeting of the Portuguese Society of Human Genetics. These grants will allow researchers to present their work at the next annual conference of the European Society of Human Genetics, which will take place in Glasgow in 2023.

The two projects focus on the study of hereditary diffuse gastric cancer syndrome (HDGC), which predisposes diffuse gastric cancer in both sexes and to lobular breast cancer in women. Celina São José’s project, which was considered the best work in basic research presented at the Congress of the Portuguese Society of Human Genetics, focuses on the CDH1 gene, the major cause of the development of HDGC.

The researcher explains that In this work “we studied 22 families with this syndrome that had no genetic diagnosis and we identified two families with changes in regulatory elements associated with the CDH1 gene, which may not only explain the disease but, in one of them, explain the appearance of cancer at a very young age in five elements of the same generation”.

This research work is being carried out by Celina São José as part of her PhD in Biomedicine, at the Faculty of Medicine of the University of Porto (FMUP), under the guidance of researcher Carla Oliveira (from the i3S) and researcher Stefan Mundlos (from the Max Planck Institute for Molecular Genetics in Berlin).

The Professor Amândio Tavares Prize, which distinguishes the best research work oriented towards clinical genetics or laboratory diagnosis, was awarded to researcher Silvana Lobo for her project on the impact of germline variants on the CTNNA1 gene, the second leading cause of HDGC. In this work, she explains, “we describe the creation of a cohort of 100 families carrying germline variants in CTNNA1 from all over the world, which details molecular and clinical data of these families and their 400 individuals”.

This study involved the collaboration of 14 institutions from nine countries around the world and “allowed us to understand that the spectrum of cancers in the context of CTNNA1-positive families is broader than that described for HDGC-positive families for CDH1, the most affected gene in this syndrome”, stresses Silvana Lobo. Data that become particularly relevant to define surveillance and prophylaxis strategies.

Silvana Lobo also presented data on the animal model that the team created - Drosophila melanogaster humanized for the CTNNA1 gene - with the objective of “evaluating the functional impact of the human variants of CTNNA1 that we found in patients in different types of organs”. This project is being developed as part of his PhD in Molecular and Cellular Biotechnology Applied to Health Sciences (BiotechHealth), at ICBAS, which is being supervised by researchers Carla Oliveira and Paulo S. Pereira (from the i3S) and by researcher Patrick R. Benusiglio (from the Pitié-Salpêtrière Hospital, in Paris).