Rare Diseases and Orphan Drugs: from genes to personalized ... · Ranieri M, Tamma G, Pellegrino T,...
Transcript of Rare Diseases and Orphan Drugs: from genes to personalized ... · Ranieri M, Tamma G, Pellegrino T,...
Rare Diseases and Orphan Drugs: from genes to personalized medicine
Università degli Studi di Bari “Aldo Moro”Palazzo Ateneo – Salone degli Affreschi
Piazza Umberto I, 1 – Bari
October 10 – 11, 2016
Organizing Committee:
Diana ConteAnnamaria De Luca Jean-François DesaphyDomenico TricaricoMarcello Diego LogranoGiuseppina Annicchiarico
Organizing secretariat Local Scientific Committee:
Sabata Pierno Antonella LiantonioPaola ImbriciMichela De BellisAntonietta MeleGiulia Maria Camerino
Fulvia LorussoAlfredo Mondelli Sassinoro
Dipartimento di Farmacia-Scienze del FarmacoDipartimento di Scienze Biomediche
e Oncologia Umana
Con il patrocinio di
PROGRAM
Monday, October 10
15:30 – 16:00 Welcome reception and registration
16:00 – 16:30 Opening and Meeting PresentationAntonio Felice Uricchio, Giorgio Cantelli Forti, Roberto Perrone, Loreto Gesualdo, Diana Conte
17:00 – 18:30
18:30 – 19:00 Coffee Break and Poster View
19:00 – 19:45 Keynote Lecture I: Alfred L. George JrProfessor and Chair of PharmacologyNorthwestern University, Chicago, USA
Welfare, Funding and Patients Associations: words and aimsGiuseppina Annicchiarico, Anna Ambrosini, Graziella De Martino
16:30 – 17:00
‘Therapeutic Targeting of Ion Channels in Genetic Epilepsy’
Chair: Giorgio Cantelli Forti
Oral Comunications – Session #1Chairs: Alessandro Mugelli, Michael Pusch
Characterization of the biochemical, functional and pharmacological properties of KCNT1channels incorporating mutations causing Malignant Migrating Partial Seizures of Infancy (MMPSI)M.V. Soldovieri, F. Rizzo, P. Ambrosino, I. Mosca, L. Manocchio, G. Coppola, A. Weisz, M. Taglialatela
Electrophysiological characterization of Purkinje neurons from FHM3 (SCN1A) knock-in miceI. Zanardi, S. Bertelli, N. Plesnila, T. Freilinger, P. Gavazzo, M. Pusch
Trimethylangelicin (TMA) interacts directly with F508del-CFTR protein and rescues the F508delCFTR-dependent chloride secretionO. Laselva, M. Favia, L. Guerra, B. Di Benedetto, S. Cannone, S. Molinski, C.E. Bear, V. Casavola
The efficacy of late sodium current blockers in hypertrophic cardiomyopathy is dependent ongenotype: a study on transgenic mouse models with different mutations.R. Coppini, L. Santini, L. Mazzoni, C. Ferrantini, F. Gentile, JM. Pioner, L. Sartiani, V. Bargelli, C.Poggesi, A. Mugelli, E. Cerbai
Novel pharmacological approach to address personalized therapy in Myotonia Congenita:potential chaperone activity of 9-AC and NFA on hClC-1 channel mutants.C. Altamura, P. Imbrici, A. Toscano, R. Mantegazza, M. Lo Monaco, C. Camerino, M.R. Carratù, G.Mangiatordi, O. Nicolotti, D. Conte, J-F. Desaphy
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Tuesday, October 11
8:45 – 10:15
10:15 – 11:00 Keynote Lecture II: Dominic Wells Professor in Translational MedicineThe Royal Veterinary College, London (UK)
11:00 – 12:00 Coffee Break and Poster Discussion
Chairs: Antonio Frigeri, Domenico Tricarico, Jean-François Desaphy
Oral Comunications – Session #2
Chairs: Pierluigi Canonico, Maria Rosaria Carratù
‘Progress and problems in developing treatments for rare diseases: the lesson from Duchenne muscular dystrophy’
Chair: Angelo Vacca
Long-term evaluation of low-dose intravenus bevacizumab in hereditary hemorrhagictelangiectasiaP. Suppressa, P. Lastella, G.M. Lenato, M. Gaetani, M.L. Cavallo, C. Sabbà
5-HT7 receptor activation as a novel therapeutic strategy in fragile-X syndomeE. Lacivita, L. Costa, L.M. Sardone, M. Spatuzza, M. Niso, C.M. Bonaccorso, S. D’Antoni , M.V.Catania, L. Ciranna, M. Leopoldo
Impaired Mitochondrial Biogenesis in Limb Girdle Muscular Dystrophy 2D: EpigeneticModifications of the PGC-1α Promoter and Identification Of Nitric Oxide-Dependent SalvagePathwayM. Giovarelli, S. Pambianco, C. Perrotta, PL. Puri, S. Zecchini, D. Cervia, I. Di Renzo, L. Latella, E.Clementi, C. De Palma
Cross-talk between inflammation and metabolic failure in animal models of Duchenne musculardystrophy and idiopathic polymyositis: effects of metabolic modulatorsP. Mantuano, R.F. Capogrosso, A. Cozzoli, A. Giustino, F. Sanarica, M. De Bellis, G.M. Camerino, K.Nagaraju, A. De Luca
CFTR correctors for the treatment of type 2D Limb Girdle Muscular DystrophyM. Carotti, E. Bianchini, C. Fecchio, R. Betto, R. Sacchetto, I. Richard, D. Sandonà
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12:00 – 13:30
Concluding RemarksAnnamaria De Luca, Giorgio Cantelli Forti
13:30 – 14:00
14:00 – 15:00 Light lunch
Oral Comunications – Session #3
Chairs: Luigia Trabace, Antonio Musarò
Potential therapeutic effect of beta3-adrenergic receptor agonists on Xlinked NephrogenicDiabetes InsipidusG. Procino, M. Carmosino, S. Milano, M. Dal Monte, G. Schena, M. Mastrodonato, A. Gerbino, P.Bagnoli, M. Svelto
The role of autoimmunity in the phenotype of inherited epidermolysis bullosa patients: thecytokine profileM.G. Morgese, S. Esposito, G. Lopalco, M. Lattarulo, M. Tampoia, D. Bonamonte, L. Brunetti, A.Vitale, G. Lapadula, L. Trabace, L. Cantarini, F. Iannone, G. Annicchiarico
Targeting Calcium Sensing Receptor with calcimimetics as possible therapeutic target inAutosomal dominant polycystic kidney disease (ADPKD).A. Di Mise, G. Tamma, M. Ranieri, M. Centrone, GC Baldelli, D. Mekahli, E. N.Levtchenko, G. Valenti
New insight in pathomechanism of Pseudoxanthoma elasticumR. Miglionico, A. Ostuni, M. Armentano, L. Milella, E. Crescenzi, M. Carmosino, F. Bisaccia
New insights from massive transcriptome sequencing for motor neuron degeneration inamyotrophic lateral sclerosisAM. D’Erchia, C. Manzari, D. S. Horner, M. Chiara, I. Aiello, F. Mastropasqua, C. Lionetti, F. Pisani,GP. Nicchia, M. Svelto, E. Picardi, G. Pesole
Tuesday, October 11
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KEYNOTE SPEAKERS
SPEAKERS
AUTHORITIES and CHAIRS
Alfred L. George JrProfessor and Chair of Pharmacology
Northwestern University,
Chicago, USA
Dominic WellsProfessor in Translational Medicine
The Royal Veterinary College,
London (UK)
Italia Aiello
Concetta Altamura
Sara Bertelli
Marcello Carotti
Raffaele Coppini
Annarita Di Mise
Matteo Giovarelli
Enza Maria Lacivita
Onofrio Laselva
Paola Mantuano
Rocchina Miglionico
Serena Milano
Maria Grazia Morgese
Maria Virginia Soldovieri
Patrizia Suppressa
Antonio Felice UricchioRector of the University of Bari
Giorgio Cantelli FortiPresident of the Italian Pharmacological Society (SIF)
Roberto PerroneDirector of the Department of Pharmacy – Drug Sciences, University of Bari
Loreto GesualdoDirector of the School of Medicine, University of Bari
Diana ConteProfessor of Pharmacology, University of Bari
Anna AmbrosiniResearch Program Manager, Telethon Foundation
Giuseppina AnnicchiaricoDirector of Reginal Coordination of Rare Diseases-CO.RE.MA.R, Apulia
Pierluigi CanonicoProfessor of Pharmacology, University of Piemonte Orientale
Maria Rosaria CarratùProfessor of Pharmacology, University of Bari
Annamaria De LucaProfessor of Pharmacology, University of Bari
Graziella De MartinoPresident of “Miotonici in Associazione” (M.i.A) Onlus
Jean-François DesaphyProfessor of Pharmacology, University of Bari
Antonio FrigeriProfessor of Physiology, University of Bari
Alessandro MugelliProfessor of Pharmacology, University of Firenze
Antonio MusaròProfessor of Histology and Medical Embryology, University of Rome
Michael PuschDirector of Biophysic Institute, CNR, Italy
Luigia TrabaceProfessor of Pharmacology, University of Foggia
Domenico TricaricoProfessor of Pharmacology, University of Bari
Angelo VaccaProrector of the University of Bari, Professor of Internal Medicine 5
1. The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress withaberrant Ca2+ handling. Carmosino M, Gerbino A, Schena G, Procino G, Miglionico R, ForleoC, Favale S, and Svelto M (Potenza-Bari).
2. Amyotrophic Lateral Sclerosis: modification of biophysical properties and geneexpression in skeletal muscle of a SOD-1 related mouse model. Fonzino A, Conte E,Liantonio A, Camerino GM, Mele A, Tricarico D, Dobrowolny G, Musarò A, Conte Camerino D,and Pierno S (Bari-Roma).
3. Growth hormone secretagogues protect by mitochondrial dysfunctions induced inskeletal muscle of rat model of cachexia. Sirago G, Fracasso F, Liantonio A, Conte E,Camerino GM, Torsello A, Fehrentz J-A, Martinez J, Pesce V, and Cantatore P (Bari-Milano-Montpellier).
4. Pharmacological study of SCN4A mutations located in the hNav1.4 sodium channel fastinactivation machinery to address precision medicine in non-dystrophic myotonias.Farinato A, Altamura C, Imbrici P, Maggi L, Mantegazza R, Filosto M, Ricci G, Siciliano G, LoMonaco M, Conte Camerino D, and Desaphy J-F (Bari-Milano-Pisa-Brescia-Roma).
5. Resveratrol and IbTX irreversible block BKCa channel and induce cell cycle arrests inhuman neuroblastoma SHSY5Y cells: possible use in neuroblastoma diseases. Maqoud F,Mele A, Angelelli C, Pannunzio A, Camerino C, Campanella F, Coluccia M and Tricarico D(Bari).
6. Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2 R198Q, a gain-of-function variant. Miceli F, Millichap JJ, Tran B, Keator C, Joshi N,De Maria M, Soldovieri MV, Ambrosino P, Shashi V, Mikati M, Cooper EC, and Taglialatela M(Napoli-Chicago-Houston-Fort Worth-Campobasso-Durham).
7. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) secondary to anactivating mutation in the vasopressin type 2 receptor: evidence for vasopressinindependent increase in AQP2 trafficking and osmotic water permeability. Ranieri M,Tamma G, Pellegrino T, Valenti G and Cotecchia S (Bari).
8. In vivo and in vitro pharmacological inhibition of Src Tyrosin Kinase and NADPHOxidase to counteract oxidative stress in Duchenne muscular dystrophy. Sanarica F,Cozzoli A, Capogrosso RF, Mantuano P, Cutrignelli A, Giustino A, De Bellis M, Denora N, andDe Luca A (Bari).
9. Pharmacovigilance database search discloses CLC-K channels as a novel target of theAT1R blockers Valsartan and Olmesartan. Imbrici P, Tricarico D, Mangiatordi GF, Nicolotti O,Lograno MD, Conte D, and Liantonio A (Bari).
10. Study of the expression profile and pharmacological role of the CB1 receptor inDuchenne Muscular Dystrophy (DMD) muscles: a new opportunity to reinforce musclerepair and locomotor activity. Iannotti FA, Pagano E, Adinolfi S, Guardiola O, Gazzerro E,Capasso R, Minchiotti G and Di Marzo V (Genova-Napoli).
POSTER COMMUNICATIONS
Tuesday, October, 11, 11.00-12.00
Session 1 - Chair: Antonio Frigeri
Session 2 - Chair: Domenico Tricarico
11. Digital registry SIMaRRP: a useful tool for the epidemiological analysis of raredisease in Apulia. Cetrone M, Gargano M, Fiorita T, Natale M, Malerba M, and AnnicchiaricoG (Bari).
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12. Management of common variable immunodeficiency with subcutaneous IgG selfadministration during pregnancy – a case report. Marasco C, Venturelli A, Rao L, CarratùMR, and Vacca A (Bari).
13. A spike at tumor onset earmarks low level instability in peripheral blood cells fromlynch syndrome patients. Lastella P. Lenato GM, Loconte DC, Bozzao C, Patruno M, RecchiaA, Varvara D, Piglionica M, Resta N, Suppressa P, Resta F, Sabbà C, and Stella A (Bari).
14. A case of hypogonadotropic hypogonadism associated with hereditary hemorrhagictelangiectasia. Lenato GM, Suppressa P, Lastella P, Scarano V, Dani E, D’Aprile L, Triggiani V,and Sabbà C (Bari-Napoli).
15. Hereditary haemorrhagic telangiectasia: how to resolve the complex clinicalmanagement of a serious brain abscess. Suppressa P, Lenato GM, Lastella P, Gaetani M,Cavallo ML, Gaudio R, Burdi N, and Sabbà C (Bari-Taranto).
16. Eribulin in male patients with metastatic breast cancer: first report of clinical outcome.Mallamaci R, Giotta F, and Lavalle F (Bari).
17. Co-occurrence of MT-ND1 and MT-RNR1 mutations in a family with Leber's hereditaryoptic neuropathy and mental retardation. Bianco A, Galeandro V, Russo L, De Caro MF,Bisceglia L, D’Agruma L, Zoccolella S, Guerriero S, and Petruzzella V (Bari).
18. Fatal case of ecstasy-induced typical symptoms of neuroleptic malignant syndromeassociated with the DRD2/ANKK1-Taq1A polymorphism: a case report. Gabriele F,Balestra B, Capelli E, Locatelli CA, Petrolini VM, Pastoris O, and Coccini T (Pavia).
19. Pharmacokinetic and pharmacodynamic (PK/PD) evaluation to adapt therapy indifferent paediatric ages: the case of DEEP project. Del Vecchio GC, Ceci A, Bellanti F,Bonifazi D, Cosmi C, Filosa G, Lassandro G, Giordano P, Pitrolo L, Ruggieri L, Putti C, andDella Pasqua O (Bari-Pavia).
20. Pluripotent Stem Cells for Gene Therapy of Rare Diseases. Rubolino C, D’Aiuto L,Nimgaonka VL, Lasorsa FM, Barile SN, Imbrici P, Altamura C, Desaphy J-F, Palmieri L,Viggiano L (Pittsburgh-Bari)
Session 3 - Chair: Jean-François Desaphy
21. Migration and invasiveness of cells derived from human renal angiomyolipoma underdrugs and hormonal influence in vitro. Bertolini F, Casarotti, Colangelo D, and Mognetti B(Torino).
22. Ultrasonography of skeletal muscle in small animals: a new non invasive tool for pre-clinical studies in rare muscle diseases. Mele A, Rana F, Fonzino A , De Bellis M, Pierno S,Liantonio A, Desaphy JF, De Luca A, and Conte Camerino D (Bari).
23. Histological platform in pre-clinical studies in animal models of neuromusculardiseases. De Bellis M, Capogrosso RF, Mantuano P, Giustino A, Liantonio A, Pierno S, ConteCamerino D, and De Luca A (Bari).
24. Hereditary haemorrhagic telangiectasia and juvenile polyposis: two syndromes with ashared pathway. Lastella P, Suppressa P, Lenato GM, Dani E, D’Aprile L, Stella A Resta N,and Sabbà C (Bari).
25. Genetic and proteic evaluation of CLC1 channel expression in fast and slow ratskeletal muscles from birth to elderly: toward the development of new phenotype and agespecific therapies. Conte E, Musaraj K, Caloiero R, Fonzino A, Ventriglia G, Nicchia GP,Lograno MD, De Luca A, Pierno S, and Camerino GM (Bari).
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26. Contractile efficiency of dystrophic mdx mouse muscle: in vivo and ex vivoassessment of adaptation of functional end-points to exercise. Capogrosso RF,Mantuano P, Cozzoli A, Sanarica F, De Bellis M, Giustino A, Camerino GM, Grange RW, andDe Luca A (Bari).
27. Cell-Based screening for the identification of new biological markers for CentralNervous System autoimmune gliopathies. Palazzo C, Mastrapasqua M, Ruggieri M, NicchiaGP, Pisani F, Lavolpe V, Paolicelli D, Iaffaldano P, Luciannatelli E, Tortorella C, Trojano M,and Frigeri A (Bari).
28. Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool forBarth syndrome. Lobasso S, Angelini R, Gorgoglione R, Bowron A, Steward CG, and CorcelliA (Bari-Bristol).
29. Exome sequencing in Limbe Girdle Muscular Dystrophy type 1H (LGMD1H). BiancoA, Bisceglia L, Galeandro V, Santorelli MF, Castellana S, De Bonis P, Palumbo O, Mazza T,Nigro V, and Petruzzella V (Bari-Napoli).
30. The H-bond between L53 and T56 does not play a role for Aquaporin-4 epitopeformation in Neuromyelitis Optica. Pisani F, Simone L, Gargano CD, De Bellis M, Cibelli A,Mola MG, Frigeri A, Svelto M, and Nicchia GP (Bari-Foggia-Roma-New York).
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