Please note that this seminar will be held at the "Campus Scientifico" in Via Torino, Mestre (Building Zeta, "Aula B"). Campus Scientifico Location
In the last decade, the availability of novel techniques for gene sequencing and the parallel decrease in the costs of the assays have opened new scenarios upon the approach to gene discovery and, more broadely, to personalised medicine. In neuroscience, the discovery of new genes through tarteged, whole exome and genome wide sequencing has changed the concept of sporadic diseases, providing evidence in support of individual susceptibility and better stratification of patients, deepening the knowledge on underlying pathophysiological mechanisms and allowing to move closer to disease-modifying therapies. Besides the analysis of DNA variants, several studies have strongly shown the importance of investigating the epigenetic stable and/or heritable changes in gene function not causing DNA sequence modifications as well as changes at the RNA level. Overall, the huge potentiality provided by genome analyses, leading to thousands of variants in each individual, has increased the need of bioinformatics approaches able to rescrict and prioritise the data and to support the entire pipeline from patient sequencing to gene discovery and following validation of the pathogenetic effect. Finally, studies have also shown that personal and environmental determinants can affect the individual susceptibility to develop common diseases and respond to therapies, thus widening the spectrum of variants to be controlled and emphasising the need of new models matching clinical and genomic analyses.
Giuseppe Lauria is the Director of the Department of Clinical Neurosciences and Deputy Scientific Director at the IRCCS “Carlo Besta” Neurological Institute of Milan, Italy. He received the degree in Medicine at the University of Padova and trained as resident in Neurology at the University of Ferrara. He has been fellow at the Department of Neuroscience of the Johns Hopkins University, USA. Prof. Lauria has pioneered the use of skin biopsy in peripheral neuropathies and neuropathic pain syndromes, contributed to the discovery of new phenotypes and gene mutations in small fibre neuropathies and participated in several guidelines on peripheral neuropathies for the clinical practice.