European Society of Human Genetics rewards i3S PhD student

Rita Barbosa Matos, PhD student in the Expression Regulation in Cancer group, was recently awarded the Young Investigator Award Mia Neri, which distinguishes the best oral communication on cancer research presented at the European Human Genetics Conference. This year it took place in Gothenburg, Sweden, and Rita has all expenses taken care of, as part of the ESHG National Fellowship the researcher had been granted in the last meeting of the Portuguese Society of Human Genetics (SPGH 2018). The scholarship funded the participation of Rita Barbosa Matos in the 2019 ESHG congress to present her work: <em>Structural variations at CDH1 intronic cis-regulatory elements cause CDH1 / E-cadherin loss of function</em>. The prize has a monetary value of €500 and also includes the fee of the annual membership of the ESHG, as well as a free of charge participation in the ESHG 2020 congress, in Berlin.

The award-winning work centers on the study of the CDH1 gene, which encodes the E-Caderin protein (responsible for keeping the epithelial cells attached to each other, preventing them from dividing uncontrollably and invading other tissues and organs), and structural modifications in this region of the human genome. Individuals with mutations in the CDH1 gene are at an increased risk of developing life-threatening diffuse gastric cancer over 70%; women are still at increased risk for developing lobular carcinoma of the breast. Given that this type of cancer has a poor prognosis (10% survival rate after five years), genetic screening is crucial to identify hereditary genetic changes in as many households and individuals as possible before the disease manifests. In this work, researchers used human genome-editing techniques to induce structural changes in the introns of the CDH1 gene and found for the first time that these alterations compromised the function of the CDH1 gene and the Cadherin-E protein. These new mechanisms will now be explored in a cohort of 400 families from around the world.

For Rita Barbosa Matos this prize "is a great honor because it was a chance to get people talking, at an international level, about Carla Oliveira and her team, who have been dedicated to the study of hereditary diffuse gastric cancer for over 10 years. It also got the name of i3S out there". This award, she says, "is an incentive to work as a team and to always do more and better. Many thanks to SPGH for the prize they gave me in 2018, which allowed me to participate in the ESHG 2019 congress. And thanks to the ESHG that recognized me internationally in 2019».

The award-winning work had the participation of researchers from i3S, the Faculty of Medicine from the University of Porto, and the Center for Translational and Applied Genomics from the British Columbia Cancer Agency, Canada.