Wednesday, November 5 th, INGM POLICLINICO RESEARCH DAY Conference hall ground floor Padiglione Invernizzi

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1 Wednesday, November 5 th, INGM POLICLINICO RESEARCH DAY Conference hall ground floor Padiglione Invernizzi Opening sessions Giancarlo Cesana, President of Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Giuseppe Di Benedetto, President of Fondazione INGM Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi Pier Mannuccio Mannucci, Chief Scientific Officer of Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Sergio Abrignani, Chief Scientific Officer of Fondazione INGM Presentation of the winner of the Policlinico INGM 2014 Grant in Molecular Medicine Luca Valenti, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico EpIDEMIC-HCC: Exome sequencing for the IDEntification of inherited Mutations Involved in hepatocellular Carcinoma Break 1

2 Oral presentations: new therapeutic and diagnostics targets Session Chairs: Silvano Bosari, Raffaele de Francesco Beatrice Bodega Laboratory of Genome Biology - INGM Repetitive elements dynamics in cellular differentiation and disease Alessio Di Fonzo Department of Neurology - Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico In-depth analysis of mitochondrial DNA and mitochondrial DNA repair machinery in adult onset disorders featuring mitochondrial genome instability Stefano Biffo Laboratory of Molecular Histology and Cell Growth INGM Connecting the metabolic syndrome and cancer: the story of a common target, eif Luca Elli Department of Pathophysiology and Transplantation - Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Fibroblasts in the pathogenesis of Celiac Disease and Dermatitis Herpetiformis: evaluation of their role in the immune response and mirna expression/function Sergio Abrignani Laboratory of Immunology - INGM Autoantibodies in health and disease Maria Serpente Department of Pathophysiology and Transplantation - Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Th17-related cytokines and long non coding RNAs in Multiple Sclerosis: determination of a specific signature for prognosis and response to treatment Poster viewing* *see details at the end of the program 2

3 Short oral presentations Session chairs: Monica Miozzo, Massimiliano Pagani Ilaria Panzeri Laboratory of Integrative Biology - INGM Regulation of CD + T cell differentiation by linc-maf Monica Nizzardo Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Morpholino treatment rescues the spinal muscular atrophy (SMA) phenotype Moira Paroni Laboratory of Autoimmunity - INGM Evidence for a prominent pathogenic role of Th1/17 central memory cells in relapsing-remitting multiple sclerosis Marta Lionetti Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico High-throughput sequencing for the identification of BRAF mutations in multiple myeloma Luca Fagnocchi Laboratory of Epigenetics - INGM The Myc-driven epigenetic silencing of Wnt antagonists sustains selfrenewal of Embryonic Stem Cells Angela Peron Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Molecular pre-and post natal diagnosis of Beckwith-Wiedemann syndrome Elena Provasi Laboratoy of Integrative Biology - INGM micrornas role in human follicular helper T cells differentiation and function 3

4 Laura Sonzogni Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico In vitro ferroportin expression in non transfusion dependent thalassemia during erythroid differentiation Petra Neddermann Laboratory of Virology Fondazione INGM Mammalian Hedgehog signaling requires phosphatidylinositol 4-phospate kinase III-α activity for the translocation of Smoothened to the primary cilium Valentina Bollati Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Susceptibility to Particle Health Effects, mirna and Extracellular vesicles: Preliminary results of the SPHERE Study Break Closing lecture Tiziano Barbui Direttore Scientifico della Fondazione per la Ricerca Ospedale Maggiore - FROM - Bergamo "From observational studies to randomized clinical trials in Myeloproliferative Neoplasms" 4

5 Poster viewing 1. Reconstruction of microrna/genes transcriptional regulatory networks of multiple myeloma through in silico integrative genomics analysis Agnelli L [1], Bisognin A [2], Calura E [2], Todoerti K [3], Manzoni M [4], Martini P [2], Sales G [2], Romualdi C [2], and Bortoluzzi S. [2], and Neri A [1, 4] [1] Dept. of Clinical Sciences and Community Health, University of Milan; [2] Dept. of Biology, University of Padova; [3] Laboratory of Pre-Clinical and Translational Research, IRCCS-CROB, Rionero in Vulture (PZ); [4] UOC Hematology, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan 2. Cd45, vimentin and periostin as novel markers of graft outcome in a cohort of kidney transplanted patients Carlo M. Alfieri[1], Paola Simonini[1], Anna Regalia[1], Masami Ikehata[2], Deborah Mattinzoli[2], Francesca Zanoni[1], Christos Chatziantoniou[3], Maria Pia Rastaldi[2], Gabriella Moroni[1] and Piergiorgio Messa[1]. [1] Nephrology, Dialysis and Kidney Transplantation, Fondazione IRCCS Ca' Granda Ospedale Policlinico, Milan, Italy; [2] Renal research laboratory, Fondazione IRCCS Ca' Granda Ospedale Policlinico, Milan, Italy and [3] INSERM Joint Research Unit S_702, Tenon Hospital, Paris, France. 3. Magnetic resonance spectroscopy in posterior cortical atrophy A. Arighi, M. Rango, A.M. Pietroboni, M. De Riz, G Fumagalli, L. Ghezzi, A. Calvi, P. Basilico, S. Zago, E. Rotondo, P. Corti, M. Mercurio, R. Vimercati, C. Fenoglio, M. Serpente, N. Bresolin, D. Galimberti, E. Scarpini University of Milan, Dino Ferrari Center, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy 4. Clinical and molecular heterogeneity of 47 patients affected by congenital dyserythropoietic anemia type II (CDAII). Bianchi P, Fermo E, Vercellati C, Marcello AP, Zaninoni A, Zanella A, Cortelezzi A, Barcellini W. UO Oncoematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Cà Granda Ospedale Maggiore. 5. Effects of Oxidative DNA Damage in Peripheral Leukocytes on gene specific DNA methylation M. Hoxha [1], L. Tarantini[1], B. Albetti[1], L. Angelici[1], M. Bonzini [2], L. Cantone[1], L. Dioni[1], A. Baccarelli [3], P. Apostoli [4], P.A. Bertazzi[1], V. Bollati[1] [1] Molecular Epidemiology and Environmental Epigenetics Laboratory, University of Milan and IRCCS Ca Granda Maggiore Hospital Foundation, Milan [2] University of Insubria, Varese [3] Harvard School of Public Health, Boston, MA, [4] University of Brescia. 6. A novel BPAN mutation and evidence of genetic heterogeneity in cases of NBIA Sara Bonato[1], Valentina Melzi[1], Giulia Franco[1], Linda Borellini[1], Grazia D Angelo[1], Naghia Ahmed[1], Emanuele Frattini[1], Ernesto Di Biase[1], Ilaria Trezzi[1], Dario Ronchi[1], Filippo Arrigoni[2] Elisa Scola[2], Maria Teresa Bassi[2], Nereo Bresolin[1],[2], Giacomo P. Comi[1], Alessio Di Fonzo[1]. [1] Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan. [2] IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. [3] Neuroradiology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan. 5

6 7. The role of influenza and rhinovirus infections in nasopharyngeal pneumococcal acquisition among young children S. Bosis, M. Gambino, A. Scala, B. Ascolese, A. Zampiero, L. Senatore, L. Terranova, E. Prada, N. Principi, S. Esposito Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy 8. Characterisation of the functional role of novel variants within the 5 UTR and the promoter of heme biosynthesis genes. Brancaleoni V. [1]; Fiorentino V. [1]; Granata F. [1]; Cappellini MD[1], [2]; Di Pierro E. [1] [1] Dip. Medicina Interna - Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico [2] Dip. Scienze cliniche e di comunità- Università degli Studi di Milano 9. Quantitative deficit of FoxP3 in CD4+CD25+ cells in non-ipex autoimmune enteropathy is associated with massive duodenal infiltration by intraepithelial Tc17 cells. Paroni M [1], Magarotto A[2], Nizzoli G[1], Gianelli U[3],[4], Crosti C[1], Moro M[1], Pagani M[1], Abrignani S[1], Conte D[3][5], Geginat J[1] and Caprioli F[3],[5] [1] Istituto Nazionale di Genetica Molecolare, Milan, Italy [2]Postgraduate School of Gastroenterology, University of Milan, Italy [3] Department of Pathophysiology and Transplantation, University of Milan, Italy [4] Pathology Unit, Fondazione IRCCS Cà Granda, Ospedale Policlinico di Milano, Milan, Italy [5]Gastroenterology and Endoscopy Unit, Fondazione IRCCS Cà Granda, Ospedale Policlinico di Milano, Milan, Italy 10. Amniotic mesenchymal stem cells can correct the defective CFTR/ENaC function and tightness of cystic fibrosis airway epithelium upon coculture Carbone a,b, S. Castellani b, M. Favia c, A. Diana d, S. Di Gioia b, Lucy Costantino a, V. Giannone a, M. Seia a, V. Casavola c, M. Conese b, C. Colombo e a Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Laboratory, Milan, Italy b Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy c Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy d Cystic Fibrosis Regional Center, Azienda Ospedaliero-Universitaria Policlinico, Bari, Italy e Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, CysticFibrosis Center, Milan, Italy 11. Adenosine receptors as peripheral biomarkers in the differential diagnosis of dementia in elderly M.Casati1, B.Arosio1,2, C.Gussago1,2, E.Ferri2, E.Tedone1,2, P.D.Rossi1, D. Mari1,2 1Geriatrics, 2Dept. Medical Sciences and Community Health, UNIMI, Fondazione IRCCS Cà Granda, Osp. Maggiore Policlinico, Milan. 12. Unimolecular and multimolecular polymeric nanocarriers for targeting podocytes in kidney glomerulus. Riccardo Bruni1,2,3, Claudio Colombo3, Li Min1,2,3, Shojiro Watanabe2,Davide Moscatelli3, Piergiorgio Messa2, Maria Pia Rastaldi2, Francesco Cellesi1,2,3 1. Fondazione CEN - European Centre for Nanomedicine, Piazza Leonardo da Vinci 32, Milan, Italy; 2. Renal Research Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, Milan, Italy; 3. Dipartimento di Chimica, Materiali ed Ingegneria Chimica "G. Natta". Politecnico di Milano, Via Mancinelli 7, Milan, Italy 6

7 13. The novel GRN g.1159_1160deltg mutation is associated with behavioural variant frontotemporal dementia. Sara MG Cioffi1, Daniela Galimberti1, Alberto Calvi1, Paolo Caffarra 2, Chiara Fenoglio1, Maria Serpente1, Anna M Pietroboni1, Andrea Arighi1, Laura Ghezzi1, Simona Gardini2, Elio Scarpini1 1. Neurology Unit, Dept. of Pathophysiology and Transplantation, University of Milan, Fondazione Ca Granda, IRCCS Ospedale Policlinico, Milan, Italy 2Department of Neurosciences, University of Parma, Parma, Italy 3Center for Cognitive Disorders, AUSL, Parma, Italy 2. Department of Neurosciences, University of Parma, Parma, Italy Center for Cognitive Disorders, AUSL, Parma, Italy 14. Array-CGH analysis and microrna profiling in a cohort of Sézary sindrome patients Corti L1, Merlo V1, Venegoni L2, Fanoni D1, Saporiti G1, Onida F1,2, Berti E1,2 1. Fond. IRCCS Ca Granda - Ospedale Maggiore Policlinico, Milano 2. Università di Milano 15. NEXT GENERATION SEQUENCING: an innovative approach to study Ehlers Danlos Syndrome Cortini F.1,2, Bassotti A.3, Biffignandi A.1, Porcaro L.1, Marinelli B.2, Bertazzi P.A.2, Costantino L.1 Seia M.1 1. Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Italy. 2. Center of Molecular and Genetic Epidemiology, Department of Environmental and Occupational Health, Università di Milano, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. 3. Ehlers-Danlos disease regional center, Department of Enviromental and Occupational Health, Università di Milano, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. 16. Genetic polymorphisms and risk of recurrent wheezing in pediatric age S. Esposito1, V. Ierardi1, A. Scala1, L. Terranova1, C. Tagliabue1, W. Peves Rios1, C. Pelucchi2, N. Principi1 1Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy; 2IRCCS Mario Negri Institute for Pharmacological Research, Milan, Italy 17. Array-based Comparative genomic hybridization in aggressive CD8+ primary cutaneous lymphomas. Fanoni D1, Venegoni L2, Merlo V1, Corti L1, Tagliaferri E1, Crosti C1,2, Onida F1,2, Berti E1,2,3. 1. Fondazione IRCCS Ca Granda - Ospedale Maggiore Policlinico, Milano 2. Università degli Studi di Milano 3. Università degli Studi di Milano-Bicocca 18. Genetic profile, epigenetic mechanisms and gene expression of Pin1 in patients with late-onset frontotemporal dementia E.Ferri1,2, B.Arosio1,3, C.D addario4, M.Casati1, C.Gussago1,3, E.Tedone1,3, M.Pucci4, D.Galimberti5,6, M.Serpente5,6, C.Fenoglio5,6, E.Scarpini5,6, M.Maccarrone7,8, D.Mari1,3 1Geriatrics 2PhD in Nutritional Sciences, Dept. Biomedical and Clinical Sciences 3Dept. Medical Sciences and Community Health 5Neurology 6Dept. Pathophysiology and Transplantation, UNIMI, Fondazione Cà Granda, IRCCS Osp. Maggiore Policlinico, Milan; 4University of Teramo; 7CERC, Santa Lucia IRCCS, 8CIR, University of Rome, Italy. 19. IFNL4 polymorphisms predict sustained response and HBsAg clearance in interferon treated HBeAg negative chronic hepatitis B patients Enrico Galmozzi, Pietro Lampertico, Floriana Facchetti, Massimo Colombo Division of Gastroenterology and Hepatology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milano, Italy. 7

8 20. Glomerular and lymphocyte expression changes of the glutamate receptor NMDAR in adriamycin nephropathy. Maria Teresa Gandolfo, Laura Giardino, Deborah Mattinzoli, Alessandro Corbelli, Maria Pia Rastaldi, Piergiorgio Messa. Ospedale Maggiore Policlinico and Fondazione D Amico, Milano, Italia. 21. Whole-exome sequencing approach to identify novel risk factors underlying inhibitor development in severe Hemophilia A patients Marcin M. Gorski1, Kevin Blighe2, Isabella Garagiola1, Sabrina Seregni2, Maria Elisa Mancuso2, Elena Santagostino2, Luca A. Lotta2, Flora Peyvandi1,2 1. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. 2. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy. 22. Global changes in DNA methylation in Alzheimer's disease peripheral blood mononuclear cells C.Gussago1,2, B.Arosio1,2, C.D Addario3, M.Casati1, E.Ferri2, A.Di Francesco3, M.Maccarrone4, D.Mari1,2. 1Geriatrics, 2Dept. Medical Sciences and Community Health, University of Milan, Milan; Fondazione C`a Granda, IRCCS Ospedale Maggiore Policlinico, Milan; 3Faculty of Bioscience and Technology for Food, Agriculture and Environment, University of Teramo, Teramo; 4CERC Santa Lucia IRCCS, CIR, University of Rome, Rome. 23. High-throughput sequencing for the identification of DIS3 mutations in multiple myeloma Lionetti M*, Barbieri M*, Fabris S*, Ciceri G*, Todoerti K, Manzoni M*, Milesi G*, Segalla S^, Rossi FG*, Tonon G^, Cortelezzi A*, Baldini L*, Neri A* *Department of Clinical Sciences and Community Health, University of Milan and Hematology 1 CTMO, Foundation IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy; Laboratory of Pre-Clinical and Translational Research, IRCCS-CROB, Referral Cancer Center of Basilicata, Rionero in Vulture (PZ), Italy; ^Functional Genomics of Cancer Unit, Division of Molecular Oncology, San Raffaele Scientific Institute, Milan, Italy. 24. Antigenic presentation by primary duodenal fibroblast in celiac disease. Roncoroni L, Lombardo V, Baldoli E, Roz L, Doneda L, Monguzzi E, Conte D, Elli L. Gastroenterology and Endoscopy Unit Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Department of Pathophysiology and Transplantation Università degli Studi di Milano, Milan - Italy. Tumor Genomics Unit, Department of Experimental Oncology and Molecular Medicine, IRCCS Foundation National Cancer Institute. 25. Dense genotyping of immune-related disease regions for the identification of genetic risk factors in acquired thrombotic thrombocytopenic purpura. Ilaria Mancini1, Andrea Cairo1, Marcin M. Gorski3, Barbara Ferrari1, Luca A. Lotta1, Isis Ricaño- Ponce2, Cisca Wijmenga2, Flora Peyvandi1,3. 1. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, Italy; 2. Genetics Department, University Medical Center and University of Groeningen, Groeningen, The Netherlands; 3. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. 8

9 26. A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism. Melzi V 1, Franco G 1, Malaguti MC 2, Di Giacopo R 3, Borellini L 1, Bonato S 1, Trezzi I 1, Di Biase E 1, Monfrini E 1, Monzio Compagnoni G 1, Rizzuti M 1, Ronchi D 1, Bresolin N 1, Corti S 1, Comi GP 1, Di Fonzo A U.O.C. Neurologia, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano 2. UO Neurologia, Ospedale S. Chiara, Trento 3. Centro di Riabilitazione Neurocognitiva, Università di Trento, Trento 27. TELOMERASE promoter mutations, expression and localization in differentiated thyroid cancer. Marina Muzza1, Carla Colombo1, Stefania Rossi2, Valentina Cirello1, Michela Perrino1, Simone De Leo1, Elisa Pignatti3, Manuela Simoni3, Gaetano Bulfamante2, Laura Fugazzola1 1. Dept. of Clinical Sciences and Community Health, University of Milan, and Endocrine Unit, Fondazione IRCCS Ca Granda, Milan; 2. Division of Pathology, San Paolo Hospital, Milan and Dept. of Health Sciences, University of Milan 3. Dept. of Biomedicine, Metabolism and Neural Sciences, University of Modena and Reggio Emilia, Italy 28. Preliminary study on glioblastoma-associated autoantibodies as new circulating biomarkers to develop antiangiogenic multitarget therapies Navone SE1, Sinisi A2, Di Vito C3, Campanella R4, Fanizzi C5, Rampini P5, Riboni L3, Abrignani S2, Bombaci M2, Marfia G1 1. Laboratory of Experimental Neurosurgery and Cell Therapy, Neurosurgery Unit, Fondazione IRCCS Ospedale Policlinico, Milan, Italy; 2. Protein Array Laboratory, INGM, Milan, Italy; 3. Department of Medical Biotechnology and Translational Medicine, LITA-Segrate, University of Milan, Milan, Italy; 4. Unit of Neurotraumatology, U.O. Neurosurgery, San Carlo Borromeo Hospital, Milan, Italy; 5. Neurosurgery Unit, Fondazione IRCCS Ospedale Policlinico, Milan, Italy. 29. Comprehensive analysis of recurrent gene mutations in chronic myelomonocytic leukemia: association with disease characteristics and prognostic impact Clara Ricci1, Silvia Gimondi2, Federico Colombo3, Cristiana Carniti2, Giorgia Saporiti4, Domenico Delia1, Agostino Cortelezzi4 and Francesco Onida4 1.Dept. Experimental Oncology/ 2. Hematology Dept, - Fondazione IRCCS Istituto Nazionale dei Tumori 3.Flowcytometry/4Hematology-CTMO, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 30. ADAMTS13 in DVT: In vitro characterization of ADAMTS13 single nucleotide variants identified by nextgeneration sequencing in a group of DVT patients Maria Teresa Pagliari1, Luca Andrea Lotta1, Carla Valsecchi1, Gloria Casoli1 Paolo Bucciarelli1, Ida Martinelli1, Frits R. Rosendaal3, Flora Peyvandi1,2 1. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Milan, Italy 2. Department of Pathophysiology and Transplantation, University of Milan, Italy 3. Department of Clinical Epidemiology and Department of Thrombosis and Haemostasis, Leiden University Medical Center, Leiden, Netherlands 9

10 31. Charcot-Marie-Tooth type 2A: modelling pathogenesis and development of therapeutic strategy using patient-specific ipscs. Rizzo F., Nizzardo M., Simone C., Salani S., Ronchi R., Pagliarani S., Melzi V., Piga D., Riboldi G., Stuppia G., Parente V., Del Bo R., Bresolin N., Comi GP, Corti S. Neurology Department, IRCCS Cà Granda Hospital, University of Milan, Milan, Italy 32. DEFECTIVE muscle mitochondrial biogenesis and delayed muscle maturation in spinal muscular atrophy Dario Ronchi1, Michela Ripolone2, Mafalda Rizzuti1, Andreina Bordoni1, Francesco Fortunato1, Gigliola Fagiolari2, Raffaella Violano2, Stefania Corti1, Monica Sciacco2, Maurizio Moggio1, Nereo Bresolin1, Giacomo P. Comi1 1. Dino Ferrari Centre, University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico. 2. Neuromuscular Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico. 33. A new mouse avatar model of lung cancer Maria Veronica Russo1, Alice Faversani1, Stefano Gatti2, Dario Ricca1, Alessandro Del Gobbo1, Stefano Ferrero1,3, Valentina Vaira1, Alessandro Palleschi4, Silvano Bosari1,5 1. Division of Pathology, 2. Center for Preclinical Surgical Research, 4. Division of Thoracic Surgery, Fondazione IRCCS Ca' Granda and 3. Department of Biomedical, Surgical and Dental Sciences, 5. Department of Pathophysiology and Transplantation, University of Milan, Italy 34. Genetic characterization of patients with ahus for tailoring Eculizumab treatment Salardi S1, Ardissino G2, Tel F2, Possenti I2, Testa S2, Cresseri D2, Cugno M3, Seia M1, Tedeschi S1 1. Laboratory of Molecular Genetics, 2. Center for HUS Control, Prevention and Management, 3. Medicina Interna, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan. 35. Functional consequences and founder effect of a recurrent F8 mutation (c.6046c>t, p.r2016w) in patients with hemophilia A from Northern Italy Sabrina Seregni, Isabella Garagiola, Irving Donadon, Mimosa Mortarino, Maria Rosaria Fasulo, Maria Elisa Mancuso, Elena Santagostino, Mirko Pinotti, Flora Peyvandi. U.O.C Ematologia Non Tumorale e Coagulopatie, Centro Emofilia e Trombosi Angelo Bianchi Bonomi, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Italia Dipartimento di Scienze della Vita e Biotecnologie, Università degli Studi di Ferrara, Italia 36. Effect of Fingolimod treatment on circulating mirnas levels in patients with Multiple Sclerosis M. Serpente, D. Galimberti, C. Fenoglio, M. De Riz, A. Pietroboni, A. Calvi,, S.Cioffi, E. Scarpini Dept. of Pathophysiology and Transplantation, Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. 37. Pneumococcal colonization in healthy children and pediatric patients with chronic underlying disease L. Terranova, A. Zampiero, V. Montinaro, V. Ierardi, W. Peves Rios, N. Principi, S. Esposito Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy 38. Tr1-like cells suppress experimental colitis and are associated with IBD JS. Alfen, F. Facciotti, N. Galgiani, M. Paroni1, C. Ciafardini2, M. Moro1, MC. Crosti1, D. Conte2, F. Caprioli2, S. Abrignani1, RF. Flavell, J. Geginat1. 1. Fondazione Istituto Nazionale di Genetica Molecolare 2. U. O. Gastroenterologia 2, Fondazione Cá Granda/Policlinico 10

11 39. The translational branch of insulin drives lipogenesis through eif6 Daniela Brina1,2, Annarita Miluzio1,2, Sara Ricciardi1,2,3, Kim Clarke4, Gabriella Viero5, Toma Tebaldi5, Nina Offenhäuser6, Jan Rozmann7, Birgit Rathkolb7, Susanne Neschen7, Martin Klingenspor7, Eckhard Wolf7, Valerie Gailus-Durner7, Helmut Fuchs7, Martin Hrabe de Angelis7, Alessandro Quattrone5, Francesco Falciani4, and Stefano Biffo1,2,3 1. INGM, Romeo ed Enrica Invernizzi, Milano, 20122, Italy 2. San Raffaele Scientific Institute, Milano, 20132, Italy 3. DISIT, Alessandria, 15100, Italy 4. University of Liverpool, Liverpool L69 7ZB, UK. 5. Centre for Integrative Biology, University of Trento, 38123, Trento, Italy 6. IFOM Foundation, Milano, Italy 7. German Mouse Clinic, Helmholtz Center Munich, Neuherberg, 85764, Germany 40. New potential drugs identification for the Schwachman-Diamond Bodian Syndrome Calamita P.[a], Pesce E. [a], Miluzio A. [a], Peluso I. [b], Curti S. [a], Gorrini C. [c], Medina D. [b], Khanim F. [d], Rommens JM. [e], Pagani M. [a], Biffo S[a]. [a] Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi" [b] TIGEM [c] Campbell Family Institute for Breast Cancer Research [d] School of Biosciences University of Birmingham [e] Department of Molecular Genetics, University of Toronto 41. miriadne: a web application to follow the thread through the mirna nomenclature labyrinth. Donatella Carpi, Riccardo L. Rossi, Raoul J.P. Bonnal, Valeria Ranzani, Massimiliano Pagani. Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi" 42. The role of long non-coding RNAs in HCV life cycle: a next generation sequencing approach C. Cheroni, V. Zanoni, L. Donnici, F. Balistreri, R.J. Bonnal, M. Pagani, P. Neddermann and R. De Francesco Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi (INGM) 43. Dissecting the D4Z4-mediated 3D regulation of Atrogin1 gene expression, a novel candidate gene involved in FSHD disease Cortesi1, C. Cheroni2, V. Berno3, B. Bodega1 1. Genome Biology Unit, Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi" (INGM), Via Francesco Sforza 35, Milano, Italy 2. Bioinformatics Unit, Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi" (INGM), Via Francesco Sforza 35, Milano, Italy 3. Imaging Unit, Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi" (INGM), Via Francesco Sforza 35, Milano, Italy 44. A distinct lymphocyte-dependent fingerprint is revealed in serum circulating micrornome. Paola de Candia1, Anna Torri1, Tatiana Gorletta1, Valentina Viganò2, Maya Fedeli2, Giulia Casorati2, Paolo Dellabona2 & Sergio Abrignani1. 1. INGM, Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi, Milan, Italy. 2. Experimental Immunology Unit, Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Scientific Institute, Milan, Italy. 45. Opposing roles of IL-10 producing regulatory and helper T cells in B cell responses and systemic lupus erythematosus F. Facciotti1, A. Penatti2, N. Gagliani3, S. Alfen1, M. Paroni1, P. Gruarin1, M. Moro1, MC. Crosti1, F. Ingegnoli2, S. Torretta4, L. Pignataro4, M. Pagani1, R.A. Flavell3, PL. Merroni2, S. Abrignani1, J. 11

12 Geginat1. 1. Fondazione Istituto Nazionale di Genetica Molecolare 2. Istituto Ortopedico G. Pini, Rheumatology Dept. 3. Yale Medical School, Immunobiology Dep., New Haven, USA 4. U. O. Otorinolaringoiatria, Fondazione Cá Granda/Policlinico 5. U. O. Chirurgia Generale e d'urgenza, Fondazione Cá Granda/Policlinico 46. The transcription factor Eomes determines cytotoxic lineage commitment of in vivo occurring IL-10 producing regulatory T cells S. Maglie1, P. Gruarin1, M. DeSimone1, JS. Alfen1, M. Paroni1, M. Moro1, MC. Crosti1, G. Rossetti1, R. Rossi1, M. Pagani1, S. Abrignani1, J. Geginat1. 1. Fondazione Istituto Nazionale di Genetica Molecolare 47. A dynamic switch of Ezh1 isoforms modulates PRC2 silencing activity as adaptive epigenetic response in post-mitotic cells. Bodega Beatrice1,2, Marasca Federica1,2, Cherubini Alessandro1, Della Valle Francesco2, Di Pelino Simona1, Zippo Alessio1, Cheroni Cristina1, Lanzuolo Chiara3, Orlando Valerio4,2, 1. Istituto Nazionale di Genetica Molecolare (INGM) Romeo and Enrica Invernizzi, Genome Biology Unit, Milan, Italy. 2. IRCSS Fondazione Santa Lucia, Epigenetics and Genome Reprogramming, Rome, Italy. 3. CNR Institute of Cellular Biology and Neurobiology, IRCCS Santa Lucia Foundation, Via Del Fosso di Fiorano 64, Rome, Italy 4. KAUST Environmental Epigenetics Research Program, Biological Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Kingdom of Saudi Arabia 48. Unveiling the role of linc-maf-4 in human CD4+ T cell differentiation Stefano Marchesi, Ilaria Panzeri, Serena Curti, Valeria Berno, Elisa Sugliano, Giuseppa Grasso, Valeria Ranzani, Grazisa Rossetti, Sergio Abrignani, Massimiliano Pagani. Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi 49. Two novel serum biomarkers improve autoimmune hepatitis discovery and diagnosis. Saveria Mazzara1, Antonia Sinisi1, Angela Cardaci1, Riccardo L Rossi1, Luigi Muratori2, Sergio Abrignani1and Mauro Bombaci1 1Istituto Nazionale Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Protein Array Laboratory, Milan, Italy; 2Sant'Orsola-Malpighi University Hospital, Dep. of Medical and Surgical Sciences DIMEC, Bologna, Italy 50. Weighted Gene Correlation Network Analysis is useful to combine gene and mirna expression data for selection of regulated gene hubs and functional modules. Saveria Mazzara, Riccardo L. Rossi. Computational Biology and Data Analysis, Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi" 51. May mammary stem cells (MaSCs) plasticity be responsible for tumor development? Stefania Mazzoleni1, Valeria Berno1, Alessio Zippo1. 1. Fondazione Istituto Nazionale di Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi 52. Translational control in malignant pleural mesothelioma. Oliveto S1,2, Miluzio A1, Gasparini P3, Mutti L4, Murer B5, Biffo S1,2 1. INGM, Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi Milano, Italy 2. University of Eastern Piedmont, Biology, Alessandria, Italy 12

13 3. Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center, Columbus, OH, 43210, USA 4. RCPI Medical Oncology, Clinical Oncology, Vercelli, Italy 5. Hospital Dall' Angelo, Pathology, Venice, Italy 53. Mapping the D4Z4 repeat genomic interactome to decipher the 3D-chromatin landscape of normal and FSHD-associated myogenic differentiation. Matthieu Pesant1, Claudio Lorenzi1, Valeria Berno2 and Beatrice Bodega1. 1. Istituto Nazionale di Genetica Molecolare, Genome Biology Unit, Via Francesco Sforza, 35, Milano, Italia. 2. Istituto Nazionale di Genetica Molecolare, Imaging Unit, Via Francesco Sforza, 35, Milano, Italia. 54. c-myc induce a stem-cell like phenotype in mammary epithelial cells through Wnt pathway regulation Poli, V.1; Mazzoleni, S.1; Fagnocchi, L.1, Hatsuda, H.1; Serafini, R.2; Berno, V.1; Miluzio, A.1; Zippo, A.1 1. Fondazione Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi, Milano, Italy 2. Università degli Studi di Siena, Siena, Italy 55. Deciphering the role of long intergenic non-coding RNAs in human lymphocytes by integrating genomemapping and de-novo strategies V. Ranzani1, A. Arrigoni1, R.J.P. Bonnal1, G. Rossetti1, I. Panzeri1, S. Curti1, E. Provasi1, E. Sugliano1, Maurizio Marconi2, B. Bodega1, S. Abrignani1 and M. Pagani1. 1. Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi, Milano, Italy. 2. IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy 56. Sought and found with proteomics: novel diagnostic biomarkers in Primary Biliary Cirrhosis. Antonia Sinisi1, Angela Cardaci1, Saveria Mazzara1,Monica Moro1, Maricristina Crosti1, Pietro Invernizzi2, Luigi Muratori3, Jens Geginat1, Sergio Abrignani1and Mauro Bombaci1 1. Istituto Nazionale Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Laboratory of Protein Array, Milan, Italy; 2. Centre for Autoimmune Liver Diseases, IRCCS Humanitas Research Hospital, Rozzano; 3. Sant'Orsola-Malpighi University Hospital, Departiment of Medical and Surgical Sciences DIMEC, Bologna, Italy 13