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Brief Research Description

My research activity is focused on the genetics of Multiple Sclerosis and other autoimmune diseases or neurodegenerative diseases.

Current research lines involve:

a) Genome Wide Association Studies (GWAS) on susceptibility to MS with the identification of 201 non-HLA loci involved in MS susceptibility;

b) Fine-mapping and in vitro functional studies on the MS loci to identify the primarily functional associated variants within each locus, their functional role and target genes, with a special interest to drug target genes;

c) the identification of rare MS associated variants through Next Generation Sequencing and functional studies; 

d) Association of the genetic factors with several MS clinical features and with comorbidity with other autoimmune diseases; 

e) Studies of interaction between genetic and environmental/life-style features to determine their association with MS clinical parameters; 

f) Development of prognostic models and scores to predict MS disease activity and progression.

 Keywords

Complex diseases, Multiple Sclerosis, Genetic association, GWAS, fine-mapping

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