Several neurological disorders can be considered multifactorial diseases, which are characterized by the interplay of genetic and non-genetic factors acting together to affect the susceptibility to the disease.
Multiple Sclerosis is a typical example of a complex disorder, in which the identification of underlying susceptibility factors and their role in disease severity and treatment response could contribute to improve the clinical management of patients, towards a more personalized therapeutic approach.
Our main interest is to better study the role of the genetic component involved in the disease and its interaction with clinical and environmental factors. For this purpose, we integrate different layers of information, including whole genome profiling (genetic and transcriptomic), clinical features and environmental exposures, to better understand the pathophysiological mechanisms that contribute to the disease. We believe that this multi-disciplinary approach contributes to disentangle the complexity of the disease, elucidating processes that could be relevant in the development of novel therapeutic targets, as well as in the field of personalized medicine.
- 2013-ongoing: Practicing neurologist, Scientific Institute San Raffaele, Department of Neurology and INSPE
- Jul 2012-Feb 2013: Postdoctoral fellow, Department of Neurology, CHUV Hospital – Lausanne (Switzerland)
- 2011-2012: Postdoctoral fellow, San Raffaele Hospital – Milan
- 2012: International PhD in Molecular Medicine, Experimental Neurology section, Università Vita-Salute San Raffaele, Milan
- 2009-2010: Visiting PhD student, Department of Neurology at Brigham & Women’s Hospital, Harvard Medical School (Boston)
- 2008-2011: PhD student in Molecular Medicine, Experimental Neurology section, Università Vita-Salute San Raffaele, Milan
- 2007: Neurology certification, Università Vita-Salute San Raffaele
- Jan 2006-Dec 2006: Research experience in the Department of Genetics, Bioinformatics and Biostatistics, Serono Pharmaceutical Research Institute (Geneva, Switzerland).
- Aug 2005-Dec 2005: Research experience in the Department of Genetics, Serono Genetics Institute (Paris, France)
- 2002-2007: Residency in Neurology, Scientific Institute San Raffaele, Department of Neurology and INSPE, Milan, Italy
- 2002: Medical Degree, Università Vita-Salute San Raffaele
- 2010 Congress of the European Committee for Treatment and Research in Multiple Sclerosis, Gothenburg (Sweden) – 1st prize awarded poster “Multiple sclerosis susceptibility alleles modulate gene expression levels of lymphocyte activation pathways”
- 2015 Congress of the Italian Society of Neurology, Genova (Italy) – award for the best publication (IF 4-10) for the 2014-2015 years: “A pharmacogenetic study implicates SLC9A9 in multiple sclerosis disease activity”
The Laboratory of Genetics of Neurological Disorders has a translational structure, from clinics to research. Our studies are mainly focused on Multiple Sclerosis, although projects are related also to neuropathic pain and other neurodegenerative diseases. The main interest is the identification of the genetic and environmental factors involved in susceptibility, disease severity and in the response to treatments. The laboratory follows complementary strategies, including omics technologies (mainly next-generation sequencing and array-based profiling), functional experiments and bioinformatics approaches to identify diagnostic, prognostic and therapy-related biomarkers.
Part of the activity of the laboratory is dedicated to a precise characterization of disease phenotypes, by collecting data on the clinical history and exposure to environmental factors, with the final aim of integrating them with biological information. The laboratory is also involved in the field of personalized medicine, to identify biomarkers of response to treatment that could help in the early identification of responders to therapy.
Clarelli F, Liberatore G, Sorosina M, Osiceanu AM, Esposito F, Mascia E, et al. Pharmacogenetic study of long-term response to interferon-ß treatment in multiple sclerosis. Pharmacogenomics J. 2017 Jan;17(1):84-91.
Ferrè L, Nuara A, Pavan G, Radaelli M, Moiola L, Rodegher M, Colombo B, Keller Sarmiento IJ, Martinelli V, Leocani L, Martinelli Boneschi F, Comi G, Esposito F. Efficacy and safety of nabiximols (Sativex®) on multiple sclerosis spasticity in a real-life Italian monocentric study. Neurol Sci. 2016 Feb;37(2):235-42.
Barizzone N, Zara I, Sorosina M, Lupoli S, Porcu E, Pitzalis M, Zoledziewska M, Esposito F et al. The burden of multiple sclerosis variants in continental Italians and Sardinians. Mult Scler. 2015 Oct;21(11):1385-95.
Esposito F, Guaschino C, Sorosina M, Clarelli F, Ferre’ L, Mascia E, Santoro S, Pagnesi M, Radaelli M, Colombo B, Moiola L, Rodegher M, Stupka E, Martinelli V, Comi G, Martinelli Boneschi F. Impact of MS genetic loci on familial aggregation, clinical phenotype, and disease prediction. Neurol Neuroimmunol Neuroinflamm. 2015 Jul 9;2(4):e129.
Esposito F, Sorosina M, Ottoboni L, Lim ET, Replogle JM, Raj T, Brambilla P, Liberatore G, Guaschino C, Romeo M, Pertel T, Stankiewicz JM, Martinelli V, Rodegher M, Weiner HL, Brassat D, Benoist C, Patsopoulos NA, Comi G, Elyaman W, Martinelli Boneschi F, De Jager PL. A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity. Ann Neurol. 2015 Jul;78(1):115-27.
International Multiple Sclerosis Genetics Consortium (IMSGC). International Multiple Sclerosis Genetics Consortium (IMSGC). Nat Genet. 2013 Nov;45(11):1353-60.
Martinelli-Boneschi F, Esposito F, Brambilla P, Lindström E, Lavorgna G, Stankovich J, Rodegher M, Capra R, Ghezzi A, Coniglio G, Colombo B, Sorosina M, Martinelli V, Booth D, Oturai AB, Stewart G, Harbo HF, Kilpatrick TJ, Hillert J, Rubio JP, Abderrahim H, Wojcik J, Comi G. A genome-wide association study in progressive multiple sclerosis. Mult Scler. 2012 Oct;18(10):1384-94.
Patsopoulos N, Esposito F, et al. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol. 2011 Dec;70(6):897-912.
International Multiple Sclerosis Genetics Consortium. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.Nature. 2011 Aug 10;476(7359):214-9.
Esposito F, Wojcik J, Rodegher M, Radaelli M, Moiola L, Ghezzi A, Capra R, Brambilla P, Sorosina M, Giacalone G, Martinelli V, Comi G, Abderrahim H, Martinelli Boneschi F. MGAT5 and disease severity in progressive multiple sclerosis.
J Neuroimmunol. 2011 Jan;230(1-2):143-7.
International Multiple Sclerosis Genetics Conssortium (IMSGC), Esposito F, et al. IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010 Jul;11(5):397-405.