Precision medicine becomes reality: an avant-garde center for genomic analysis and big data is born in the Valley

Researchers of the ‘5000genomi @ VdA’ project and clinical staff of the AUSL Vda met in a scientific workshop with the aim of creating a center of personalized and precision medicine and thus becoming a unique reality at national level and European.

Thanks to the 5000genomi @ VdA project, a new center for genomic and big data analysis was born in Aosta, the Center for Personalized, Preventive and Predictive Medicine (CMP3VdA), bringing together multidisciplinary expertise, with a focus on genomics and artificial intelligence. Located in the Espace Aosta Area, the CMP3VdA is divided into two departments, Medical Genomics and Computational Genomics, both equipped with state-of-the-art equipment.

During the workshop – held in Aosta on 13 and 14 May – researchers and clinicians were able to discuss the lines of research that will be conducted at CMP3VdA, after the regional ethics committee approved the various experimental protocols for studies in oncology, neurodevelopmental and neurodegenerative diseases and transplants. The researchers were then able to begin sequencing the first genomes of patients undergoing treatment at the regional hospital “Umberto Parini” in Aosta, who agreed to voluntarily participate in genomic in-depth studies.

The project aims to study the genome of about 400 children with autism spectrum disorders and other cognitive disorders, to investigate their genetic origin and improve both early diagnosis systems and possible treatments, and of 2000 patients suffering from Alzheimer’s disease or Parkinson’s in order to identify known genomic variants that are causative or susceptible to neurodegenerative diseases. In the case of tumors, about 800 cases of cancer patients will be studied with the aim of developing a new personalized genomic panel for genetic alterations incidence in the Valle d’Aosta population. In the case of transplants, approximately 200 patients will be analyzed in order to identify genomic variants not yet recognized as a cause or susceptibility factor for diseases treatable with transplantation.

The project is the result of the work of the research consortium led by the IIT – Italian Institute of Technology and composed of the University of Valle d’Aosta, the City of Health and Science of Turin, the Clément Fillietroz Foundation – ONLUS Astronomical Observatory of the Region Autonomous Valle d’Aosta and Engineering D.HUB and is also supported by the Autonomous Region of Valle d’Aosta with European Union structural funds (ERDF and ESF) equal to 10.6 million euros in 5 years, and 9.5 million euros co-financing by the consortium.

In addition, the project provides for the realization of the genomic study of some specificities of the regional territory in collaboration with local authorities, forming a real territorial network for the investigation of flora, fauna, cultural heritage and food and wine products. Among the entities also the Gran Paradiso National Park, whose collaboration is leading to the sequencing of the genome of the ibex, an animal symbol of the Park and uniqueness of the Aosta Valley fauna.

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