5000genomes for the Aosta Valley
5000genomi@VdA is a scientific project that has enabled the creation of a new research Center dedicated to Personalized, Preventive and Predictive Medicine (CMP3VdA) for neurodevelopmental, neurodegenerative and oncological diseases.
The 5000genomi@VdA project is the result of work by a research consortium led by IIT-Istituto Italiano di Tecnologia (Italian Institute of Technology), comprising Università della Valle d’Aosta, Città della Salute e della Scienza di Torino, Fondazione Clément Fillietroz-ONLUS Osservatorio Astronomico della Regione Autonoma Valle d'Aosta, and Engineering D.HUB. The project receives finance from the Region, from European Union (ERDF and ESF) structural funds and from a co-funding from the partnership.
The 5000genomi@VdA project comprises the construction of the Research Centre dedicated to Personalized, Preventive and Predictive Medicine (CMP3VdA) with 450 square metres of laboratiories divided in two departments: Medical Genomics and Computational Genomics. Once it has been fully integrated with the local healthcare system, it will enable improved access to diagnostics and personalised treatments by means of a detailed study of every patient’s DNA. Genomics big data data will be paired with clinical and lifestyle information exploiting specific artificial intelligence and machine learning software.
The objective is to sequence 5,000 genomes for citizens and patients affected by neurodevelopmental, neurodegenerative and oncological diseases, in close cooperation with the “Umberto Parini” Aosta Regional Hospital and the local health authority (AUSL VdA).
What are we studying?
As regards neurodevelopmental diseases, the genomes of about 400 children affected by autism spectrum disorders or other forms of intellectual impairment will be studied, in order to examine the genetic origin of the disorders and improve both early diagnostic systems and possible treatments. In the area of neurodegenerative diseases, the DNA of 2,000 patients with Alzheimer’s or Parkinson’s will be sequenced. As regards tumours, for which there has been an increase of about 700 cases per year, the most frequent cancer types will be studied. Furthermore, in the project’s initial phases, the complete genomic data of 500 healthy people of local origin will be collected and analysed in order to construct the “reference genome” for the region.
By means of the new centre, patients will have access to genetic testing through the local health authority (AUSL VdA), after having granted their informed consent. All the data collected will be stored in a regional genomic database and in the dedicated electronic healthcare records (EHR), which will comply with international standards.
Where is the new CMP3VdA centre located?
The 5000genomi@VdA project has made it possible to build state-of-the-art laboratories in the Espace Aosta Area equipped with the latest technology. The structure at CMP3VdA comprises two departments: Medical Genomics, a high performance genomic sequencing unit (NGS technology), and Computational Genomics, a hardware infrastructure for archiving big data and for high-performance computing (HPC).
About 40 researchers and technicians work at the new research centre, and 21 scholarships for young researchers have been implemented.
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