Transcript monotematico pieghevole

PROGRAM
PROGRAM
Monday, October 10
15:30 – 16:00
Welcome reception and registration
16:00 – 16:30
Opening and Meeting Presentation
Antonio Felice Uricchio, Giorgio Cantelli Forti,
Roberto Perrone, Loreto Gesualdo,
Diana Conte
16:30 – 17:00
Welfare, Funding and Patients
Associations: words and aims
Giuseppina Annicchiarico, Anna Ambrosini,
Graziella De Martino
17:00 – 18:30
Oral Comunications – Session 1
Chairs: Alessandro Mugelli, Michael Pusch
Characterization of the
biochemical,
functional
and
pharmacological properties of KCNT1 channels 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 mice
I. Zanardi, S. Bertelli, N. Plesnila, T. Freilinger, P. Gavazzo, M.
Pusch
Trimethylangelicin (TMA) interacts directly with F508del-CFTR
protein and rescues the F508del CFTR-dependent chloride
secretion
O. 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 on genotype: 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
Tuesday, October 11
8:45 – 10:15
Coffee Break and Poster View
19:00 – 19:45
Keynote Lecture I: Alfred L. George Jr
Professor and Chair of Pharmacology
Northwestern University, Chicago, USA
‘Therapeutic Targeting of Ion Channels in
Genetic Epilepsy’
Chair: Giorgio Cantelli Forti
Tuesday, October 11
12:00 – 13:30 Oral Comunications – Session #3
Chairs: Luigia Trabace, Antonio Musarò
Long-term evaluation of low-dose intravenus bevacizumab in
hereditary hemorrhagic telangiectasia
P. Suppressa, P. Lastella, G.M. Lenato, M. Gaetani, M.L. Cavallo, C.
Sabbà
Potential therapeutic effect of beta3-adrenergic receptor
agonists on Xlinked Nephrogenic Diabetes Insipidus
G. Procino, M. Carmosino, S. Milano, M. Dal Monte, G. Schena, M.
Mastrodonato, A. Gerbino, P. Bagnoli, M. Svelto
5-HT7 receptor activation as a novel therapeutic strategy in
fragile-X syndome
E. Lacivita, L. Costa, L.M. Sardone, M. Spatuzza, M. Niso, C.M.
Bonaccorso, S. D’Antoni , M.V. Catania, L. Ciranna, M. Leopoldo
The role of autoimmunity in the phenotype of inherited
epidermolysis bullosa patients: the cytokine profile
M.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
Impaired Mitochondrial Biogenesis in Limb Girdle Muscular
Dystrophy 2D: Epigenetic Modifications of the PGC-1α Promoter
and Identification Of Nitric Oxide-Dependent Salvage Pathway
M. 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 muscular dystrophy and idiopathic
polymyositis: effects of metabolic modulators
P. 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 Dystrophy
M. Carotti, E. Bianchini, C. Fecchio, R. Betto, R. Sacchetto, I.
Richard, D. Sandonà
10:15 – 11:00
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, JF. Desaphy
18:30 – 19:00
Oral Comunications – Session 2
Chairs: Pierluigi Canonico, Maria Rosaria Carratù
PROGRAM
Keynote Lecture II: Dominic Wells
Professor in Translational Medicine
The Royal Veterinary College, London (UK)
‘Progress and problems in developing
treatments for rare diseases: the lesson from
Duchenne muscular dystrophy’
Chair: Angelo Vacca
11:00 – 12:00
Coffee Break and Poster Discussion
Chairs: Antonio Frigeri, Domenico Tricarico,
Jean-François Desaphy
Targeting Calcium Sensing Receptor with calcimimetics as
possible therapeutic target in Autosomal 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 elasticum
R. Miglionico, A. Ostuni, M. Armentano, L. Milella, E. Crescenzi, M.
Carmosino, F. Bisaccia
New insights from massive transcriptome sequencing for motor
neuron degeneration in amyotrophic lateral sclerosis
AM. 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
13:30 – 14:00 Concluding Remarks
Annamaria De Luca, Giorgio Cantelli Forti
14:00 – 15:00 Light lunch
KEYNOTE SPEAKERS
Alfred L. George Jr
Professor and Chair of
Pharmacology
Northwestern University,
Chicago, USA
Dominic Wells
Professor in Translational
Medicine
The Royal Veterinary College,
London (UK)
SPEAKERS
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
AUTHORITIES and CHAIRS
Antonio Felice Uricchio
Rector of the University of Bari
Giorgio Cantelli Forti
President of the Italian
Pharmacological Society (SIF)
Graziella De Martino
President of “Miotonici in
Associazione” (M.i.A) Onlus
Antonio Frigeri
Professor of Physiology,
University of Bari
Loreto Gesualdo
Director of the School of
Medicine, University of Bari
Alessandro Mugelli
Professor of Pharmacology,
University of Firenze
Diana Conte
Professor of Pharmacology,
University of Bari
Antonio Musarò
Professor of Histology and
Medical Embryology,
University of Rome
Local Scientific
Committee:
Sabata Pierno
Antonella Liantonio
Paola Imbrici
Michela De Bellis
Antonietta Mele
Giulia Maria Camerino
CONVEGNO MONOTEMATICO
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
Fulvia Lorusso
Alfredo Mondelli Sassinoro
Con il patrocinio di
Michael Pusch
Director of Biophysic Institute,
CNR, Italy
Giuseppina Annicchiarico
Director of Reginal Coordination
of Rare Diseases-CO.RE.MA.R,
Apulia
Luigia Trabace
Professor of Pharmacology,
University of Foggia
Pierluigi Canonico
Professor of Pharmacology,
University of Piemonte Orientale
Domenico Tricarico
Professor of Pharmacology,
University of Bari
Maria Rosaria Carratù
Professor of Pharmacology,
University of Bari
Angelo Vacca
Prorector of the University of Bari,
Professor of Internal Medicine
Annamaria De Luca
Professor of Pharmacology,
University of Bari
Diana Conte
Annamaria De Luca
Jean-François Desaphy
Domenico Tricarico
Marcello Diego Lograno
Giuseppina Annicchiarico
Organizing secretariat
Jean-François Desaphy
Professor of Pharmacology,
University of Bari
Roberto Perrone
Director of the Department of
Pharmacy – Drug Sciences,
University of Bari
Anna Ambrosini
Research Program Manager,
Telethon Foundation
Organizing Committee
Dipartimento di Farmacia-Scienze del Farmaco
Dipartimento di Scienze Biomediche e Oncologia Umana