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.
