Institutes
Human genetics of neurological disorders
The research Unit is composed by scientists with different expertise (biologists, bioinformaticians and neurologists); it takes advantage of a strong collaboration with the Neurological Department, allowing a precise clinical characterization of studied subjects, and a large biobank of more than 3,000 patients affected with inflammatory disorders of the central nervous system and 800 healthy controls.
So far, significant efforts have been devoted in understanding the susceptibility factors involved in the multiple sclerosis but still several factors need to be explored, to better understand disease heterogeneity in terms of clinical manifestation, treatment response and disease severity. The study of omics data, with particular focus on genetics, epigenetics and immunosequencing, and the use of the more advanced technologies, including deep sequencing and single cell sequencing, are currently under investigation.
Research activity
My research activity aims to understand the factors involved in multiple sclerosis and its heterogeneous clinical manifestation, with an integrative approach that takes into account different complementary aspects of the disease. The main hypothesis is that multiple factors are important and could affect, with different degrees, the clinical manifestation of the disease, thus a comprehensive characterization through the integration of multi-omics layers coupled with a deep clinical characterization is needed to disentangle it. The close connection between data analysis and the clinical counterpart creates the ideal setting towards a translational approach in precision medicine.
The main ongoing projects include the study of biomarkers of disease activity and progression at medium-long follow-up, the study of environmental determinants of disease progression and the study of endophenotypes, evaluating the association of molecular data to paraclinical data.
A detailed multi-omics characterization covering different layers of molecular information is the basis of the studies mentioned, including nuclear genome genotyping, mitochondrial genome sequencing, RNA sequencing, methylomics, as well as the most recent sequencing-based approaches, such as single-cell sequencing, immunosequencing and genomic mapping of chromatin targets. Standard methods as well as systems biology-based methods and artificial intelligence approaches are used to dissect the phenomena.
