Main Aims

The genomic revolution is centered on the identification of causative genes in mendelian and complex diseases with the aim of improving diagnosis and therapeutic options. The sequencing of the entire human genome (whole genome sequencing, WGS) will represent the gold standard for genetic testing in the near future for all undiagnosed pathologies with a genetic background.

The Department of Medical Sciences is a partner of the “Network dei Genomi Italiani” (NIG) which hosts a database to interpreter and annotate genetic variants responsible for diseases or relevant for pharmacogenetics/pharmacogenomics purposes within the Italian population.

This workpackage relies on several national and international cohorts and projects, including NEUROWES (international collaboration of the Autism Sequencing Consortium, https://genome.emory.edu/ASC/), PRODIN, TENOCROSS.

The main aims of this workpackage are:

1. identification of interactions between genetic elements, infection, immunological responses, pharmacology and metabolomics
2. identification by WGS of variants responsible for undiagnosed intellectual disabilities, autism and epilepsy
3.  analysis of the link between HIV infection, anti-viral   therapy and neurocognitive disorders
4. Identification of pharmacogenetic-pharmacogenomic, therapeutic and pathological factors responsible for kidney tubular damages and identification of novel biomarkers to predict tubular damages
5. Pathogenic mechanisms and targeted therapy in rare genetic disorders