Born from the 5000genomi@VdA project coordinated by the Italian Institute of Technology (IIT) and supported by the Autonomous Region of Aosta Valley, the new Centre joins IIT’s national network and becomes the Institute’s 12th node
The Italian Institute of Technology (IIT) presented its new Centre in Aosta today. This Centre is the culmination of the five-year 5000genomi@VdA project, coordinated by IIT, which led to the creation of a new research infrastructure for personalized, precision, and predictive medicine, and the sequencing of over 5,400 patient genomes in collaboration with hospitals in and outside Aosta Valley. The Centre becomes the 12th node in the Institute’s national network, solidifying IIT’s ability to promote new models of interaction with local entities, particularly IRCCS (Scientific Institutes for Research, Hospitalization and Healthcare), by integrating advanced genomics and artificial intelligence technologies into the prevention, diagnosis, and treatment of pathologies. The Centre aims for a broader, transparent, fair, and economically sustainable introduction of genomics into the National Health System. In addition to its work in genomics-driven diagnostics, the Centre will focus on Parkinson’s disease and pancreatic cancer.
Representatives of the Autonomous Region of Aosta Valley attended the event: President Renzo Testolin, Vice President and Councillor for Economic Development, Training and Labour, Transport and Sustainable Mobility Luigi Bertschy, and Councillor for Health, Social and Healthcare Policies Carlo Marzi. Following introductory remarks by IIT President Gabriele Galateri di Genola, the discussion covered the results achieved in the framework of the 5000genomi@VdA project and provided a presentation of the future objectives of the new IIT Centre by Scientific Director Giorgio Metta.
Precision medicine involves the analysis of an individual’s genomic profile, which is collected after obtaining informed consent. Genomic data are then combined with the patient’s clinical history and lifestyle habits. Genome analysis is necessary to identify genomic variants that cause diseases in each patient, to diagnose rare and ultra-rare diseases and to design the most appropriate therapeutic strategy.
The Centre will be instrumental in advancing knowledge in clinical and computational genomics. Its activities will include: integrating genomics into National Health System, defining guidelines for operating as a diagnostic laboratory and managing clinical and genomic data, developing bioinformatics tools to identify genetic variants, improving Electronic Health Records (EHR) by including genetic information, creating dedicated IT infrastructures for genomic data management, and applying advanced technologies such as artificial intelligence (AI) and machine learning (ML) to analyze them. The Centre will also use and promote new genetic sequencing technologies and it will establish expert groups to evaluate genetic mutations, with the aim of developing personalized therapies, including RNA-based ones.
Finally, the existing collaborators network will be extended to include the USL Valdostana, hospitals, and IRCCS such as Parini and Beauregard Hospitals in Aosta, IRCCS San Martino in Genoa, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico and Humanitas Hospital in Milan, Sant’Orsola Hospital in Bologna, and Policlinico di Bari.
“This choice strengthens the regional strategy for scientific research, laying the groundwork for an industrial ecosystem capable of attracting talent, stimulating the creation of start-ups, and generating lasting economic and social benefits, thus establishing an ecosystem that combines business and research, innovation and health. With this new presence, the Aosta Valley asserts itself as a territory not only of great natural value but also capable of expressing scientific excellence projected into the future,” emphasizes Regional Vice-president Luigi Bertschy.
“One of IIT’s fundamental missions is to ensure that research results leave laboratories and translate into benefits for people and their daily lives. With the new IIT Centre in Aosta Valley, we want to accelerate the transfer of knowledge and technologies in the health sector, contributing to the construction of increasingly personalized, predictive, and precision medicine. The presence in the territories, close to patients, is fundamental for this research transfer to be effective,” comments Giorgio Metta, Scientific Director of IIT.
From the 5000genomi@VdA Project to the New IIT Centre
The 5000genomi@VdA project began in 2019, involving a research consortium led by IIT and composed of Università della Valle d’Aosta, A.O. U. Città della Salute e della Scienza di Torino, Fondazione Clément Fillietroz-ONLUS Osservatorio Astronomico della Regione Autonoma Valle d’Aosta, and Engineering D.HUB. Construction of the laboratories took place during the COVID-19 pandemic and finished in the first half of 2021. The Centre received accreditation from the National Health Service as a specialized laboratory in Medical Genetics and Genomics (with reference to neurodegenerative and oncological pathologies) in November 2023.
The project sequenced over 5,400 genomes. This dataset includes samples from several key groups. Researchers sequenced genomes from oncological patients to develop a new personalized genomic panel of genetic alterations present in Aosta Valley. They are also examining genomes from families with children affected by autism spectrum disorders and other cognitive disorders to understand genetic origins and improve diagnostic and treatment approaches. A significant number of Alzheimer and Parkinson patients (1,700 for Parkinson alone) had their genomes sequenced to identify variants responsible for the onset or the susceptibility towards these pathologies. Finally, patients contributed with their genomes to help identify unrecognized genetic factors related to conditions that need transplant. Over 500 genomes come from healthy individuals of Aosta Valley origin to create a reference genome for the region, thanks to the collaboration of blood donor associations FIDAS and AVIS.
The project results were presented by Stefano Gustincich, co-scientific coordinator of the project and Director of the IIT RNA Lab, Andrea Cavalli, co-scientific coordinator of the project and Principal Investigator at IIT, Giuseppe Cafiso, Technical Manager of Engineering D.HUB (Engineering Group), Jean Marc Christille, Director of Fondazione Clément Fillietroz-ONLUS Astronomical Observatory of the Autonomous Region of Aosta Valley, Anna Maria Alessandra Merlo, Professor of Corporate Responsibility and Rector’s Delegate for school guidance and placement at Università della Valle d’Aosta, Antonio Amoroso, Technical Director of the Centre and former Director of the Transplant Department at A.O. U. Città della Salute e della Scienza di Torino, and Dr. Agostino Ponzetti, Medical Director at the Complex Structure of Oncology and Oncological Hematology at “Parini” Hospital.
The Autonomous Region of Aosta Valley contributed to the 5000genomi@VdA project with structural funds from the European Union (ERDF and ESF) and regional funds for a total of 12.2 million euros over 5 years; the consortium co-financed other 9.7 million euros.
Following the results, both the Aosta Valley Region – with approval from the Regional Council in December 2024 – and the Italian Institute of Technology – with validation from the Executive Committee in July and September 2024 – approved the stabilization of the research infrastructure as a new Centre of the IIT network in Aosta. IIT will invest 12 million euros ca. over 5 years. Project partners will continue to contribute to the activities of the new Centre through scientific collaborations, including joint laboratories.
The Centre will continue ongoing studies, and it will focus its attention on Parkinson’s disease and pancreatic cancer. Parkinson’s is a progressive neurodegenerative disease that causes movement disorders and other non-motor symptoms. Currently, there is no definitive cure, but pharmacological and non-pharmacological therapies can help manage symptoms and improve quality of life. Pancreatic cancer, on the other hand, is the cancer with the lowest survival rate at both one and five years from diagnosis. On average, approximately 14,500 new cases are estimated per year in Italy.
The New IIT Centre
The Centre is located in the “Espace Aosta” area in Aosta, spanning over 450 square meters of laboratory space. It comprises two Departments: one for Medical Genomics and the other for Computational Genomics. Since 2019, highly qualified personnel have worked here and nowadays the staff counts for approximately 30 people. This staff will continue to operate at the Centre, and the training of young fellows will also continue thanks to the support by the European Social Fund (ESF+), fostering the growth of new professionals.
The two Departments represent the originality of the Centre, as they allow for the seamless integration of genomics and computational sciences into a streamlined workflow, integrating it with clinical practice.
The Medical Genomics Department houses equipment for the complete genome analysis: the Illumina NovaSeq 6000 and Oxford Nanopore Technology PromethION24 sequencers. NovaSeq 6000 is based on the second-generation technology (NGS – Next Generation Sequencing) and is able to sequence the entire genome of ca. 60 samples in less than 44 hours. PromethION24 is based on the third-generation technology and provides complementary data to the Illumina instrument. Both instruments have applications useful for research activities on both DNA and RNA. Furthermore, the laboratory is also equipped with instruments that allow confirming data on cell cultures, contributing to the advancement of scientific research.
In the area dedicated to computational genomics, staff generates bioinformatics programs suitable for analyzing and interpreting data from the sequencers. This department is equipped with a virtualization cluster to support laboratory activities and pre-processing of genomic data, and researchers’ job takes place on specialized workstations, each consisting of 16-core processors, 2 GPUs, and 32 GB of RAM. Thanks to these hardware and software, staff develops specific software for diagnostic and research purposes. The Department is also connected to a High-Performance Computing infrastructure.
The Italian Institute of Technology
The Italian Institute of Technology (IIT) is a state-funded scientific research center that promotes technological development with the aim of supporting excellence in basic and applied research. It fosters the development of the national economic system. IIT’s research activity is multidisciplinary and falls into four scientific areas: robotics, nanomaterials, computational sciences, and life science technologies. To date, IIT’s output includes over 20,000 publications, over 800 active competitive projects and over 60 ERC projects, more than 1,300 active patent titles, over 900 signed commercial collaboration contracts, 37 established start-ups, and over 50 in the launch phase. Patents pertain 8% to the computational sciences research area, 25% to life science technologies, 41% to nanomaterials, and 26% to the robotics area. IIT’s total staff numbers more than 1,800 people, 50% of whom come from over 70 countries worldwide outside Itay. The average age of IIT staff is 36, and 45% are women.
In total, IIT’s research infrastructure spans over 50,000 square meters, including five central research laboratories in Genoa and eleven satellite research centers located throughout Italy and abroad.
The central research laboratories host more than 1,000 people, while the Network Centers are smaller structures, employing between 30 and 100 staff members, depending on the location.
The eleven satellite research centers located in Italy are located within important Italian university institutes in Turin, two in Milan, Rovereto (TN), Venice, Ferrara, Pisa, Pontedera (PI), Rome, Naples, Arnesano (LE); IIT is also present with two laboratories in the United States, at the Massachusetts Institute of Technology (MIT) and at Harvard University. The Aosta Centre joins this network.
