Ex-DIBIO SCIENTIST SERIES : Marzia De Bortoli
Pubblicato il: 04.06.2021 12:23
Dr. Marzia De Bortoli is a Senior Researcher at Institute for Biomedicine, Bolzano, Italy
Senior Researcher at Institute for Biomedicine, Eurac Research, Bolzano, Italy.
Affiliated Institute of the University of Lübeck, Lübeck, Germany.
Past DiBio position:
Ph.D. and PostDoc Fellow
Lab. Prof. A. Rampazzo
Department of Biology
University of Padova, Italy
Professional and Research progression:
My first research activity started in 2003 at the Department of Biology of the University of Padua with my master thesis at the Laboratory of Human Genetics. In 2005, I entered the PhD program in Bioscience at the University of Padua, and I focused on the identification of novel genes involved in Arrhythmogenic Cardiomyopathy. This step represented a breakthrough: Arrhythmogenic Cardiomyopathy (ACM) characterized my research field and my career over the years.
Once graduated, since 2008, I was awarded different post-doctoral fellowship in the Laboratory of Human Genetics in the research group of Prof. A. Rampazzo. Here I started my post-doctoral studies contributing to the discovery of a novel ACM gene and to the identification of novel mutations in ACM families. These studies demonstrated for the first time the presence of multiple mutations in a significant proportion of AC patients and were functional in highlighting a correlation between genotype and phenotype. During 13 years at the Department of Biology, I have grown as person, as researcher and I completed my profile teaching and supporting students; I established a novel collaboration at Aarhus University Hospital, Denmark, and I have further expanded my study of inherited cardiomyopathies, including the molecular genetics of Hypertrophic Cardiomyopathy (HCM), the most common cause of sudden cardiac death in young and athletes
In 2018 I moved to the Institute of Biomedicine in Eurac Research (Bolzano) in the Biology of Cardiac Health and Disease Group. Arrhythmogenic Cardiomyopathy is still my main research field of interest using cardiomyocytes derived from induced pluripotent stem cells (iPSCs) of affected individuals as in vitro model for studying this disease. Here, I also started a project on the genetic determinants of Atrial Fibrillation in the Cooperative Health Research in South Tyrol (CHRIS) study, one of the largest longitudinal population-based studies in Italy, with a large set of clinical, genetic, and molecular data on about 13000 participants. Eurac is a private Research Institution with an international and interdisciplinary team of scientists and support staff, integrated into a network of international and national partners and open to trainees and PhD students from University. Not so common in Italy, but nice to know that here an internship compensation is also foreseen for Master student. Here I consolidated my position as a Senior researcher, maintaining a link with the academic world.