A Genomics Center for the Aosta Valley
The Center for Personalized, Preventive and Predictive Medicine in Valle d'Aosta - CMP3VdA, is a Laboratory specialized in Medical Genetics, established as part of the 5000genomes@VdA research project.
CMP3VdA 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.
With more than 450 sqm of laboratories between the two departments of Medical Genomics and Computational Genomics, CMP3VdA pursues a better access to diagnosis and personalized therapies through the in-depth study of each patient's DNA. Genomic data are complemented by the patient's medical history and lifestyle information through specific artificial intelligence and machine learning software.
The 5000genomi@VdA project
Started on Dec. 1, 2019, the 5000genomes@VdA project aims to sequence 5,000 genomes of patients with neurodevelopmental, neurodegenerative, oncological, and organ transplantation diseases in close collaboration with Aosta Regional Hospital "Umberto Parini" and AUSL.
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 1,500 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, about 800 cancer patients will be taken into analysis in order to develop a new genomic panel customized for alterations with incidence in the Valle d'Aosta population.
About 200 transplant patients will be analyzed with the aim of identifying genomic variants not yet recognized as a cause or susceptibility factor for diseases treatable by transplantation. In addition, complete genomic data from 500 healthy people of local origin are being collected and analyzed in order to build a 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.
The Medical Genetics analysis laboratory
Since Nov. 26, 2021, CMP3VdA has obtained the Sanitary Authorization (PDR No.7194) for the exercise of genetic analysis and can now operate in the healthcare field by performing analysis in the specialty of Medical Genetics.
As of 2023, the CMP3VdA Laboratory is about to obtain Regional Accreditation as a facility eligible to provide healthcare services on behalf of the National Health System, Local Authorities, and the Regional Administration. CMP3VdA is therefore committed to providing quality services to the citizens and providing qualified technological answers in the field of neurodegenerative diseases, as well as increasing the effectiveness of prevention, diagnosis, and treatment of cancer diseases.
The CMP3VdA Laboratory does not provide direct user access at its facility: services are provided from specialist requests. Similarly, blood draws and genetic counseling activities are carried out in collaboration with the Struttura complessa di Immunoematologia e Medicina Trasfusionale - S.I.M.T. (department of Immunohematology and Transfusion Medicine) and outpatient clinics of the forwarding facilities. Users can contact the sending facilities for information about the services provided by the Center.
For information on the services and services provided by the Center click here.
Where is CMP3VdA?
CMP3VdA at Espace Aosta includes the Medical Genomics laboratories, with a high-performance genomic sequencing unit, and the Computational Genomics area, with a hardware infrastructure for big data storage and High-Performance Computing (HPC).
The Center houses a NovaSeq 6000 Illumina sequencer, flanked by the Hamilton Microstar Lab genomic library staging robot. CMP3VdA has access to the Pont-Saint-Martin technology infrastructure of partner Engineering D.HUB (Engineering Group), including a High-Performance Computer (HPC) center consisting of 12 computational nodes (CPU, GPU, and FAT CPU) and a 100TB ultra-high performance storage system.
About 40 researchers and technicians work at the Center, and 21 research grants have been established for young researchers.
For information and inquiries please write to