Dr Manuela Vecchi is a researcher with many years of experience in leading multidisciplinary scientific projects, from genomics to precision medicine in oncology.

After graduating in Biological Sciences and attaining a specialisation certificate in Biochemistry and Clinical Chemistry at the University of Florence, she worked for about 3 years at the Biochemistry Department of Vanderbilt University (USA) where she contributed to the study of EGFR (Epithelial Growth Factor Receptors) regulatory mechanisms, which are now significant molecular targets in oncology. Successively she continued her cancer research in Milan, initially at the Department of Experimental Oncology at IEO (European Institute of Oncology) and later at IFOM (the FIRC Institute of Molecular Oncology), where she was assigned the role of Staff Scientist. For eight years she led the Clinical Biomarkers Laboratory, as part of the translational medicine programme at IEO in Milan. Working in close contact with clinical divisions and researchers, she was engaged in the preclinical and clinical identification and validation of novel cancer biomarkers in specific patient cohorts by means of retrospective and perspective studies. Recently she has worked for Cogentech S.r.l., an IFOM benefit corporation offering both high-tech services for the scientific community and heritable tumour diagnostic services for clinicians, and she was involved in advancing the company’s diagnostics portfolio and the development of NGS-based tests for patient stratification in clinical trials.

Within the 5000genomi@VdA project, Dr Vecchi will coordinate the medical genomics team involved in the collection, storage and processing of biological samples and high-throughput human genome sequencing: these activities are fundamental for the construction of a database integrated with clinical and genomic data regarding neurodevelopmental, neurodegenerative and oncological diseases. In addition, she will be working in a multi-sectoral role with doctors, researchers and bioinformaticians to consolidate beneficial collaborations with the U. Parini Hospital and the various project partners.

Dr Alessandro Coppe graduated in Biological Science in 2003 at the University of Padua, where he also took a PhD in Bioscience with a specialisation in Genetics and Molecular Biology of Development. As a result of his interest in computers and programming as well as in biology, he found bioinformatics to be his ideal field of research, starting with his degree dissertation. Initially he worked on the identification of transcriptional factor binding sites (TF-BS) located in promoters of co-expressed genes in various parts of the human body. From 2006, when the use of Next Generation Sequencing (NGS) became widely consolidated, he began working on the analysis of data arriving from the only available NGS sequencer at that time, the 454 sequencer. More specifically, he focused on the analysis of the genomes of animal species considered important from environmental and/or economic viewpoints. In 2013, he switched to the analysis of Illumina data, working on the study of tumours, principally infant leukaemia. During the course of his career, he has developed many software programmes dedicated to the analysis of tumour genomes or the identification of specific genomic characteristics of notable biological importance.

Dr Coppe’s role within the 5000genomi@VdA project will be the coordination of the bioinformatics team, with the objective of developing pipelines for the analysis of sequenced genomes in order to identify specific features of the Aosta Valley inhabitants’ reference genome. In addition, he will be involved in the analysis of data obtained from tumours in order to facilitate the work of oncologists by identifying genetic changes that can be treated by specific drugs.