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The 5000genomi@VdA project

Research at CMP3VdA

At CMP3VdA we study the genome of individuals with complex diseases, in which the genetic makeup has a strong impact on the onset, development, and therapeutic management. For these diseases, also referred to as "multifactorial," there is an interaction between genetics, lifestyle, and environmental impact.

Four out of five study areas are thus focused on pathologies of this kind:

  • Neurodegenerative diseases
  • Neurodevelopmental disorders
  • Oncological diseases
  • Study of transplantation genomics.

The fifth line of research concerns the study of the healthy population in Valle d'Aosta.

The project aims to study the genome of children with Autism Spectrum Disorders (ASD) and other cognitive disorders, to be compared with that of their parents to investigate their genetic origin and improve both early detection systems and possible treatments. Patients with Alzheimer's or Parkinson's disease will also be sequenced in order to identify known causative or susceptibility genomic variants for neurodegenerative diseases. In the case of studies on oncological diseases, the goal is to develop a new genomic panel customized for genetic alterations with incidence in the Aosta Valley population. As for organ failure diseases, people about to undergo transplantation or who have already undergone transplantation will be analyzed to identify genomic variants not yet recognized as a cause or susceptibility factor. The project also involves collecting and analyzing the complete genome of 500 healthy people from Valle d'Aosta to build a reference genome for the region.


Italian health uthorization n.7194 from 26/11/2021

Italian health accreditation n. 7137 from 22/11/2023