Wednesday, November 16 th, INGM POLICLINICO 3 rd RESEARCH DAY Conference hall ground floor Padiglione Invernizzi

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1 Wednesday, November 16 th, INGM POLICLINICO 3 rd RESEARCH DAY Conference hall ground floor Padiglione Invernizzi Opening sessions Marco Giachetti, President of Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Gianfranco Scalabrini, President of Fondazione INGM Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi Silvano Bosari, Chief Scientific Officer of Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Sergio Abrignani, Chief Scientific Officer of Fondazione INGM Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi Keynote Lecture Pier Giuseppe Pelicci Director of Research at IEO, and Chairman of the Department of Experimental Oncology, IEO Professor of Pathology, Università degli Studi di Milano From Genomics to Personalized Medicine: Challenges and Perspectives Break 1

2 Oral presentations: new therapeutic and diagnostics targets Session Chairs: Giovanna Mantovani, Stefano Biffo :35 Valentina Vaira Fondazione INGM, Pathology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplatation, Università degli Studi di Milano V-ATPase & Extracellular Signaling in Glioma Stem Cells Massimiliano Pagani Laboratory of Integrative Biology Fondazione INGM Transcriptional landscape of human tissue lymphocytes unveils uniqueness of tumor-infiltrating T regulatory cells Irene Faravelli Dino Ferrari Center, Department of Pathophysiology and Transplatation, Università degli Studi di Milano, Neurology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Modeling Spinal Muscular Atrophy to identify non-smn therapeutic targets Jens Geginat Laboratory of Autoimmunity Fondazione INGM "Different roles of Th1 and Th1/17-cells in anti-viral immune surveillance and relapses in multiple sclerosis." :55 Ilaria Mancini Department of Pathophysiology and Transplatation, Università degli Studi di Milano, and Fondazione Luigi Villa, Milano Immunochip analysis identifies novel suscreptibility loci in the HLA region for acquired thrombotic thrombocytopenic purpura. 12:55 13:15 Chiara Lanzuolo Laboratory of Chromatine and Nuclear Architecture Fondazione INGM Functional dysfunction of muscle stem cells as a determinant of Emery Dreifuss Muscular Dystrophy (EDMD) 2

3 Poster viewing* *see details at the end of the program Short oral presentations Session chairs: Valentina Bollati, Renata Grifantini Vittoria Poli Laboratory of Epigenetics - Fondazione INGM MYC acts as a tumor reprogramming factor in human mammary epithelial cells by inducing stem cell-like fate Andrea Farini Stem Cells Laboratoy, Department of Pathophysiology and Transplatation, Università degli Studi di Milano, Dino Ferrari Center. Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Therapeutic Potential of Immunoproteasome Inhibition in DMD Sara Ricciardi Laboratory of Molecular Histology and Cell Growth Fondazione INGM Translational control regulates the fate of human CD4+ T lymphocytes Donatella Milani Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Perthes Disease and Floating-Harbor syndrome: a de novo mutation in SRCAP gene Dario Besusso Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases Fondazione INGM and University of Milan CRISPR/Cas9-based approaches for modeling Huntington s Disease in embryonic stem cells 3

4 Leonardo Terranova Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Biomarkers in pediatric community-acquired pneumonia Caterina Faliti Laboratory of Immunometabolism Fondazione INGM Purinergic P2X7 receptor mediated control of T follicular helper cells limits generation of autoantibodies and immunopathology in lupus Laura Fontana Department of Pathophysiology and Transplatation, Università degli Studi di Milano, Pathology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico. NGS to uncover the bases of Multilocus Methylation Defects in Beckwith Weidemann syndrome Marco de Simone Laboratory of Integrative Biology Fondazione INGM Antibody responses depend on the helper function dictated in follicular helper T lymphocytes by BCL6 via mir-31 suppression Dario Ronchi Department of Pathophysiology and Transplatation, Università degli Studi di Milano, Dino Ferrari Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Patients derived cellular models to investigate the pathogenesis and to develop therapies for human disorders caused by acid ceramidase deficiency Federica Marasca Laboratory of Genome Biology Fondazione INGM Epigenetic role of DNA Transposable Elements (TEs) in shaping CD4+ T cell identity and plasticity 4

5 Daniela Galimberti Department of Pathophysiology and Transplatation, Università degli Studi di Milano, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico "Circulating exosomes from neuronal origin: identification of diagnostic and prognostic biomarkers of Frontotemporal Dementia (Pick disease). Closing lecture Flora Peyvandi Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Randomized clinical trials in rare disorders 5

6 Poster viewing 1. Lamin A/C-Polycomb interplay in Emery-Dreifuss Muscular Dystrophy Bianchi A1,2, Mozzetta C2, Pegoli G1, Lucini F1, Rossi R1 and Lanzuolo C1,2. 1. Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi, Via Francesco Sforza 35, Milano, Italy 2. Institute of Cellular Biology and Neurobiology, IRCCS Santa Lucia Foundation, via del Fosso di Fiorano 64 - Rome 00143, Italy 2. Prospective Evaluation Of The Etiology And Pathogenesis Of Acute Otitis Media With Spontaneous Tympanic Membrane Perforation L. Ruggiero, E. Baggi, L. Terranova1, A. Orenti2, P. Marchisio1, N. Principi1, Esposito S1 1Pediatric Highly Intensive Care Unit, UMIL, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy; 2Laboratory of Medical Statistics, Epidemiology and Biometry "G.A. Maccacaro", UMIL, Milan, Italy 3. Development of a diagnostic kit for prediction and scoring Blood Quality and Survivability based on protein array technology Pesce E1, Orbach A2, Dominici S3, Magnani M3, Huber A4 Abrignani S1 and Bombaci M1. 1. Istituto Nazionale Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Protein Array Unit, Milan, Italy; 2. Hebrew Univ. of Jerusalem, Dept. of Biochem. and Molecular Biology, Israel, 3. DIATHEVA srl, Fano (PU), Italy; 4PRC Biomedical Ltd, Haifa, Israel. 4. Identification of multimarker signatures associated to rheumatoid arthritis by protein microarray Bombaci M1, Meroni PL2, Abrignani S1 and Grifantini R1. 1. Istituto Nazionale Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Protein Array and Traslational Research Unit, Milan, Italy; 2. Istituto Ortopedico Gaetano Pini, UO Reumatologia, Milano, Italy 5. Novel autoantigens associated with Primary Biliary Cirrhosis found with proteomics approach: possible role of GP1 protein in autoimmune diseases. Torri A1, Pesce E1, Sinisi A1, Bernuzzi F2, Moro M1, Crosti M1, Invernizzi P2, Muratori L3, Abrignani S1, Grifantini R1 and Bombaci M1 1. Istituto Nazionale Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Protein Array and Traslational Research Unit, 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 6. Systems Biology Approaches for the study of Antiviral Interferon Response C. Cheroni, L. Donnici, V. Bevilacqua, V. Zanoni, R.J.P. Bonnal, S. Curti, M. Pagani, R.L. Rossi, P. Nedderman, R. De Francesco Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi (INGM) 6

7 7. Down-regulation of adenosine A2A receptors in semi-supercentenarians Ferri Ea,b, Arosio Ba,c, Casati M a,b, Galli Aa,c, Gussago Ca, Ronchetti Fa,c and Mari Da,c ageriatric Unit, Department of Medical Sciences and Community Health, University of Milan, Milan; bnutritional Sciences, University of Milan, Milan; cgeriatric Unit, Fondazione Ca Granda, IRCCS Ospedale Maggiore Policlinico, Milan. 8. SDS Cells Have an Altered Homeostasis due to Translational Inefficiency which Explains their Reduced Fitness, Providing a Framework for Intervention Calamita P1*, Miluzio A1, Pesce E1, Russo A1,2, Ricciardi S1, Khanim F3, Cheroni C1, Alfieri R1, Mancino M1, Gorrini C4, Rossetti G1, Peluso I5, Pagani M1,6, Medina D5, Rommens J7 and Biffo S1,8 1. INGM, National Institute of Molecular Genetics, Romeo ed Enrica Invernizzi, Milan, Italy 2. DiSIT, University of Eastern Piedmont, Alessandria, Italy 3. School of Biosciences, University of Birmingham Birmingham, UK 4. Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada 5. TIGEM, Pozzuoli (NA), Italy 6. Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy. 7. SickKids Children Hospital, Toronto, ON, Canada 8. DBS, Università degli Studi di Milano 9. STAT4 rs polymorphism does not predict HBsAg loss in IFN treated genotype D HBeAgnegative patients with chronic Hepatitis B Galmozzi E1, Facchetti F1, Grossi G1, Loglio A1, Colombo M1, Lampertico P1 1Division of Gastroenterology and Hepatology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milano, Italy. 10. Development of a system for in vitro HBV infection and cccdna detection Donnici L1, Bevilacqua v1, Cheroni c1, De Francesco R1. 1. INGM Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi, Virology Unit 11. Modeling human disease and development using organoid cultures. Faedo A, Conforti P, Bossi B, Galimberti M, and Cattaneo E. Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases Department of Biosciences University of Milan and Istituto Nazionale di Genetica Molecolare 12. Venereal Lymphogranuloma in an Italian Centre of Sexually Transmitted diseases: diagnosis and sequencing Narra R1, Uceda S1, Bono P1, Orlandi A1, Zoccoli A1, Benedon S2, Lunghi G1, Cusini M2. 1Virology Unit, IRCCS Policlinico, Milano 2Dermatology Unit, IRCCS Policlinico, Milano 13. Development of an in vitro disease model for dissecting the epigenetic mechanisms underlying pathogenesis of Kabuki syndrome Fasciani A1, Zippo A1 1. Fondazione INGM Romeo ed Enrica Invernizzi, Milano. INGM 7

8 14. IL-10 producing CCR6+T-cells are a distinct population of B-helper T-cells that play a pathogenic role in systemic lupus erythematosus. F. Facciotti1, P. Larghi1, N. Gagliani2,3, A. Penatti4,5, M. Paroni1, B. Häringer3,6,7, I. Kastirr1,6,7, Y. Kobayashi2, A. Iseppon2, M. Moro1, MC. Crosti1, M. Bombaci1, S. Gatti11, S. Torretta8, L. Pignataro8, M. Pagani1,9, S. Abrignani1,4, PL. Meroni4,5,, R. A. Flavell2,10, and J. Geginat1 1. INGM-National Institute of Molecular Genetics Romeo ed Enrica Invernizzi, Milan, Italy. 2. Department of Immunobiology, Yale University, USA. 3. Department of Medicine, University Medical Center Hamburg-Eppendorf, Germany. 4. DISCCO, Department of Clinical Science and Community Health, University of Milan, Italy. 5. Istituto G. Pini, Milan. 6. German Rheumatology Research Institute, Germany. 7. Research Center for Immunosciences, Germany. 8. Unità Operativa Otorinolaringoiatria, Ospedale Policlinico, Milan, Italy 9. Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy 10. Howard Hughes Medical Institute, USA 11. Preclinical and Surgical Research Centre, Ospedale Policlinico, Milan, Italy. 15. Human intestinal Tr1-cells produce IFN- -10, co-express CCR5 and PD-1, and downregulate IL-10 production in the inflamed gut. J. S. Alfen1, P. Larghi1,6, F. Facciotti1, N. Gagliani3,4*, M. Paroni1, S. Maglie1, P. Gruarin1, R. Bosotti1, A. Iseppon4, M. Moro1, M.C. Crosti1, S. Gatti5, M. Pagani1,5, F. Caprioli6,7, S. Abrignani1,2, R.A. Flavell4,8 and J. Geginat1 1.INGM-National Institute of Molecular Genetics Romeo ed Enrica Invernizzi, Milan, Italy 2. DISCCO, Department of Clinical Science and Community Health, Milan, Italy 3. Department of Medicine & Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany 4. Department of Immunobiology, Yale University, New Haven, USA 5. Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy 6. Department of Physiopathology and Transplantation, University of Milan, Italy 7. Unità Operativa di Gastroenterologia ed Endoscopia, Ospedale Maggiore Policlinico, Milan, Italy 8. Howard Hughes Medical Institute, School of Medicine, Yale University, New Haven, USA 16. V-ATPase & Extracellular Signaling in Glioma Stem Cells Bertolini I1,2,3, A. Terrasi3, M. Forimica2,3, S. Bosari2,3, V. Vaira1,2,3 1. Istituto Nazionale Genetica Molecolare "Romeo ed Enrica Invernizzi", Milan, Italy 2. Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. 3. Division of Pathology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. 17. Identification of novel mirnas involved HCV life-cycle. Bevilacqua V1, Donnici L1,Cheroni C1, De Francesco R1. 1Fondazione INGM Istituto Nazionale di Genetica Molecolare Romeo ed Enrica Invernizzi, Virology Unit 8

9 18. Long non coding RNA (LncRNAs) expression analysis in patients with Multiple Sclerosis: potential biomarkers of disease susceptibility and progression. A Calvia, C. Fenoglioa, M. Serpentea, M. De Riza, C. Comib, E. Lecchia, AM. Pietrobonia, M. Arcaroa, SMG. Cioffia, E. Oldonia, R. Cantellob, D. Galimbertia, E. Scarpinia. a Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy. b Department of Translational Medicine, Section of Neurology, University of Eastern Piedmont Amedeo Avogadro, Novara, Italy 19. Chromatin landscape of D4Z4 repeat interactome unveils a muscle atrophy signature in Facioscapulohumeral Dystrophy Pesant M1, Cortesi A1, Sinha S1, Antonelli L2, Gregoretti F2, Oliva G2, Soldà G3, Bodega B1. 1. Genome Biology Unit, Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi" (INGM), Via Francesco Sforza 35, Milan, Italy 2. CNR Institute for High Performance Computing and Networking (ICAR), Via P. Castellino 111, Naples, Italy 3. Applied Biology Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, Rozzano (Milan), Italy 20. The novel GRN g.1642_1645deltgag mutation is associated with language and behavioural impairment, and parkinsonism. SMG Cioffia, A Espayb, C Fenoglioa, M Serpentea, M Arcaroa, E Oldonia, R Ardizzola a, MC Hagenb, F Rodriguez-Porcelb, E Scarpinia, D Galimbertia a. Neurology Unit, Dept. of Pathophysiology and Transplantation, Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy b. University of Cincinnati College of Medicine, Cincinnati, USA 21. Phosphatidylinositol-4-phosphate kinases involvement in CD4+ CD25+ Foxp3+ regulatory T cell metabolism Poli A*,, Bultsma Y+, Campagnoli F*,, Ranzani V*, Bonnal R*, Rossetti G*, Pagani M*, and Divecha N*,+ * Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi +The Inositide Laboratory, Centre for Biological Sciences, Highfield Campus, University of Southampton Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università Statale di Milano Dipartimento di Scienze Biomediche, Università di Bologna 22. Genetic Polymorphisms and Cytokine Imbalance in Patients with Inherited Epidermolysis Bullosa S. Esposito1, S. Guez1, A. Orenti2, G. Tadini1, G. Scuvera1, L. Corti3, E. Biganzoli2, E. Berti3, N. Principi1 1Pediatric Highly Intensive Care Unit, UMIL, Fondazione IRCCS Policlinico, Milan, Italy; 2Laboratory of Medical Statistics, UMIL, Milan, Italy; 3Dermatology Unit, UMIL, Fondazione IRCCS Policlinico, Milan, Italy 9

10 23. The transcriptome blueprint of the human striatum Bocchi V, Faedo A, Conforti P, Ranzani V, Bonnal R, Rossetti G, Pagani M, Cattaneo E. Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases Department of Biosciences, University of Milan and Istituto Nazionale Genetica Molecolare 'Romeo ed Enrica Invernizzi, Via F. Sforza 35, Milan 20122, Italy. 24. mirnas analysis in lung cancer progression Faversani A1, Amatori S5, Augello C1,6, Colombo F2, Porretti L2, Fanelli M5, Ferrero S1,7, Palleschi A3, Pelicci PG8,9, Belloni E9, Ercoli G1, Degrassi A10, Baccarin M4, Altieri D11, Vaira V1,6, Bosari S1,6 1. Division of Pathology, 2. Flow Cytometry Service, 3. Division of Thoracic Surgery and Lung Transplantation or 4. Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; 5. Department of Biomolecular Sciences, University of Urbino Carlo Bo, Fano, Italy; 6. Department of Pathophysiology and Transplantation, 7. Department of Biomedical, Surgical and Dental Sciences or 8. Department of Oncology and Hemato-oncology, University of Milan, Milan, Italy; 9. Department of Experimental Oncology, European Institute of Oncology, Milan, Italy; 10. Biology Department, Nerviano Medical Sciences s.r.l., Nerviano, Italy; 11. Prostate Cancer Discovery and Development Program, Tumor Microenvironment and Metastasis Program, The Wistar Institute, Philadelphia, United States of America. 25. MicroRNA profiling as a guide to personalized Medicine in enteropathy associated T-cell Lymphomas and refractory celiac disease Gaudioso G1,3, Laginestra A5, Pileri S5, Ferrero S2,3, Bosari S1,3, Di Sabatino A6, Vanoli A7, Roncoroni L4, Lombardo V4, Elli L4 and Vaira V 1,3. Department of 1. Pathophysiology and Transplantation or 2.Biomedical, Surgical and Dental Sciences, University of Milan, Italy. 3. Division of Pathology or 4. Center for the Prevention and Diagnosis of Celiac Disease, Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico Milan, Italy. 5. Institute of Hematology and Medical Oncology, S. Orsola-Malpighi Hospital, University of Bologna, Italy. Department of 6. Internal Medicine or 7.Molecular Medicine San Matteo Hospital, University of Pavia, Italy. 26. Recognition of viral and self-antigens by Th1- and Th1/17CM-cells in multiple sclerosis reveals distinct roles in immune-surveillance and relapses. M. Paroni1, V. Maltese2, M. De Simone1, V. Ranzani1, P. Larghi1, C. Fenoglio2, A.M. Pietroboni2, M.A. De Riz2, M.C. Crosti1, S. Maglie1, M. Moro1, F. Caprioli3,4, R. Rossi1, G. Rossetti1, D. Galimberti2, M. Pagani1,5, E. Scarpini2, S. Abrignani1,6, J. Geginat1* 1. INGM, Istituto Nazionale Genetica Molecolare Romeo ed Enrica Invernizzi 2. Neurology Unit, Dept. of Pathophysiology and Transplantation, Università di Milano e Ospedale Policlinico 3. Dept. of Pathophysiology and Transplantation, Università di Milano e Ospedale Policlinico 4. Gastroenterology and Endoscopy Unit, Ospedale Policlinico 5. Dept. of Medical Biotechnology and Translational Medicine, Università di Milano 6. DISCCO, Dept. of Clinical Sciences and Community Health, Università di Milano 10

11 27. Telethermography, lipofilling and stem cells Gelmetti C and Muratori S Units of Dermatology and Pediatric Dermatology, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan; Dept. of Pathophysiology and Transplantation, University of Milan. 28. Transcriptional landscape of human tissue lymphocytes unveils uniqueness of tumor infiltrating T regulatory cells. Rossetti G1*, De Simone M1*, Gruarin P1*, Arrigoni A1*, Ranzani V1, Politano C1, Sarnicola M1, Bonnal R1, Provasi E1, Panzeri I1, Moro M, Crosti M1, Mazzara S1, Vaira V1,2,4, Bosari S2,4, Palleschi A3, Santambrogio L3,4, Bovo G5, Zucchini N5 Totis6 M, Gianotti L6,7, Cesana G7, Geginat J1, Abrignani A1,8, Pagani M1,9 1. Istituto Nazionale Genetica Molecolare INGM Romeo ed Enrica Invernizzi, Milan 20122, Italy. 2. Division of Pathology and 3. Division of Thoracic Surgery, IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy. 4. Department of Pathophysiology and Organ Transplantation, Università degli Studi di Milano, Milano 20122, Italy. 5. Department of Pathology, San Gerardo Hospital, Monza 20900, Italy. 6. Department of Surgery, San Gerardo Hospital, Monza 20900, Italy. 7. School of Medicine and Surgery, Milano-Bicocca University, Monza Italy. 8. Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano 20122, Italy. 9. Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milano 20129, Italy. 29. Next-Generation Dna Sequencing Approach To Identify Novel Genetic Risk Factors Underlying Cerebral Vein Thrombosis M. Gorski1,2, H G. de Haan3, I Mancini1, L Lotta2, P Bucciarelli2, S. Passamonti2, A Cairo2, E Pappalardo1, A van Hylckama Vlieg3, I Martinelli2, F Rosendaal3 and F 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 Cà Granda - Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy. 3.Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, Netherlands. 30. MYC favors tumorigensis by epigenetically activating de novo enhancers and inducing oncogenic pathways in mammary epithelial cells Fagnocchi L1,2, Poli V1,2, Cherubini A1, Mazzoleni S1, Fasciani A1, Miluzio A1, Gaudioso G2,4, Vaira V2,4, Turdo A3, Giaggianesi M3, Chinnici A3, Lipari E3, Bicciato S5, Bosari S2,4, Todaro M6 and Zippo A1, 2 1. Fondazione INGM Romeo ed Enrica Invernizzi, Milano. 2. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano. 3. Facoltà di Medicina e Chirurgia, Policlinico P.Giaccone, Università di Palermo. 4. Department of Pathophysiology and Transplantation, Università di Milano. 5. Center for Genome Research, Università di Modena and Reggio Emilia. 6. DiBiMIS, Università di Palermo. 11

12 31. Heme-Regulated Eif2α Kinase (Hri) Stress Signaling In Macrophages Maturation And Erythroblastic Island Formation In Iron Restrictive Erythropoiesis Paltrinieri E.1, Macias A.2,Delbini P.1, Chen J.J2, Cappellini M.D1 Fondazione IRCCS "Ca' Granda ospedale Maggiore Policlinico" Dip. Medicina Interna. 1Università degli Studi di Milano Dipartimento di Scienze Cliniche e di Comunità. 2Massachusetts Institute of Technology, Cambridge, MA, USA. 32. Immunochip analysis identifies novel susceptibility loci in the HLA region for acquired thrombotic thrombocytopenic purpura I. Mancini*, I. Ricaño-Ponce, E. Pappalardo*, A. Cairo, M. M. Gorski*, G. Casoli, B. Ferrari, M. Alberti, D. Mikovic, M. Noris, C. Wijmenga and F. Peyvandi*, for the Italian Group of TTP Investigators *Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Fondazione Luigi Villa, Milan, Italy University of Groningen, University Medical Center Groningen, Genetics Department, Groningen, The Netherlands Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Ranica, Bergamo, Italy Haemostasis Department and Haemophilia Center, Blood Transfusion Institute of Serbia, Belgrade, Serbia 33. Whole-exome sequencing reveals a role of rare damaging and pathogenic mutations in the predisposition to advanced nonalcoholic fatty liver disease. APietrelli, P Dongiovanni, B Donati, G Baselli, S Fargion, L Valenti. Internal Medicine Fondazione IRCCS, Università di Milano and INGM. 34. myvcf: a web-based platform for target and exome mutations data management Pietrelli A and Valenit L. Internal Medicine Fondazione IRCCS, Università di Milano and INGM. 35. ipsc-derived motor neurons from CMT2A patients showed selective mitochondrial depletion, resistance to apoptosis and increased mitophagy. Rizzo F., Ramirez A., Ronchi R., Salani S., Nizzardo M., Fortunato F., Bordoni A., Del Bo R., Piga D., Bresolin N, Comi G.P., Corti S. Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca Granda Ospedale Maggiore Policlinico, Milan, Italy. 36. FAM46C is a Multiple Myeloma tumour suppressor that localizes to the ER and functions by regulating the ER stress response and apoptosis Mancino M1, Manfrini N1*, Oliveto S1, Alfieri R1, Miluzio A1 Calamita P1, and Biffo S1,2 1. Molecular Histology and Cell Growth Unit, National Institute of Molecular Genetics "Romeo ed Enrica Invernizzi" - INGM, Milan, Italy 2. DBS, University of Milan, Milan, Italy 12

13 37. ALS molecular therapy exploiting integrated small RNAs analysis of patient-derived ipscs Rizzuti M.1, Nizzardo M.1, Filosa G.2, Rinchetti P.1, Calandriello L.1, Dioni L.1, Bresolin N.1, Comi G.P.1, Barabino S.2, Corti S.1 1 Dino Ferrari Center, Department of Physiopathology and Transplants, IRCCS Cà Granda Foundation, Ospedale Maggiore Policlinico Milano, University of Milan 2 Department of Biotechnology and Biosciences, University of Milano-Bicocca 38. Lnc-FOXP3 epigenetically regulates cell identity and function of T regulatory lymphocytes Panzeri I1,2; Dardanelli A1; Gruarin P1; Sarnicola ML1; Ranzani V1; Curti S1; Albertelli A1; Bonnal R1; Tabano S2; Miozzo M2; Rossetti G1 ; AbrignaniA 1,3; Pagani M1,4. 1. Fondazione Istituto Nazionale di Genetica Molecolare (INGM) Romeo ed Enrica Invernizzi, Milano 2. Università degli Studi di Milano, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Milano 3. Università degli Studi di Milano, Dipartimento di Scienze Cliniche e di Comunità, Milano 4. Università degli Studi di Milano, Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Milano 39. Chromatin conformation of the 11p15.5 region in normal and pathological conditions D Rovina1, A Cortesi2, M La Vecchia1, L Fontana4,5, F Rossella1, P Colapietro1, S Maitz3, A Selicorni3, S Tabano4,5, M Miozzo4,5, B Bodega2, S Sirchia1 1Medical Genetics, DiSS, Universita degli Studi di Milano, Italy. 2. Genome Biology Unit, INGM, Milano, Italy. 3. Clinical Genetics, FMBBM, Monza, Italy 4. Division of Pathology, IRCCS Ca Granda Ospedale Maggiore Policlinico, Milano, Italy. 5, Medical Genetics, DePT; Università degli Studi di Milano, Italy 13