ORGANIZZAZIONE. Iscr.Reg.Vol. TV O.N.L.U.S. C.C.Postale N IBAN IT 13 Y

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1 ORGANIZZAZIONE SINDROME DI ANGELMAN Via Bressa n 8 Tel Fax C.F E mail: orsa@sindromediangelman.org Dear all, Or.S.A, the Italian Angelman Syndrome Organization, is pleased to invite you to attend the International Meeting of Angelman Syndrome that will be held in Rome (Italy) on October 11 and the XVIII National Congress of Or.S.A that will be held in Trevi (Perugia) on October The International Meeting of Angelman Syndrome, on Friday 11 October in Rome, is a scientific meeting open to researchers and clinicians interested in the field of neuroscience, genic therapy, neurodevelopmental disorders and in particular Angelman Syndrome. The meeting is also open to the official representatives of European and world-wide A.S parents organizations (maximum 2 persons/ organization). The official language of the meeting will be English. The schedule: - Thursday, October 10: at 21p.m. at Hotel Parco Tirreno (via Aurelia Roma; there will be a welcome meeting with Or.S.A, representatives of parent organizations (maximum 2 persons/ organization) and the invited scientists. - Friday, October 11: at 8.00 a.m. a conference bus service will be provided for all the participants from the hotel Parco Tirreno to the meeting venue (Children's Hospital Bambino Gesù). - After the meeting, in the afternoon, a Rome Sightseeing bus tour will be arranged, followed by a social dinner in a typical regional restaurant in Rome. - After dinner, the bus will drive the participants to Trevi, at Hotel della Torre ( - venue of the Or.S.A XVIII National Congress. Travel 150 km, 1h and half approximately. - Saturday, Octber 12: Scientific speakers will present their latest findings on AS research: all presentations will be simultaneously translated into Italian. Enrolment and participation to the Or.S.A National Congress in Trevi is open to everyone. - In order to organize and ensure the bus from the hotel to the meeting venues, in Rome and later in Trevi, we kindly ask to register by September 15. The organization of the Or.S.A XVIII National Congress in Trevi (PG) is the following: - Saturday, October 12, / : Scientific speakers will present their latest findings on AS research. - Sunday, October 13, : presentations about the Italian experience in the treatment and management of epilepsy, Augmentative Communication in S. Angelman (CAA) and the therapeutic protocol of rehabilitation. - At you can find the program of the International meeting of Angelman Syndrome in Rome and of the Or.S.A National Congress. Iscr.Reg.Vol. TV O.N.L.U.S. C.C.Postale N IBAN IT 13 Y

2 ORGANIZZAZIONE SINDROME DI ANGELMAN Via Bressa n 8 Tel Fax C.F E mail: orsa@sindromediangelman.org To register for the International Meeting of Angelman Syndrome in Rome: Organizing Secretariat: ECM Service Training Events, Bambino Gesù Piazza S. Onofrio Rome Phone (+39) /2290/3768. Fax (+39) 06/ congressi@opbg.net Fee: Participation at the Meeting in Rome is free of charge Accomodation: you can book one of the several hotels in the city, but if you want to stay at Hotel Parco del Tirreno, you can request the special discount "Meeting OR.SA". (Hotel Parco del Tirreno, phone Costs: The bus service (in Rome and to Trevi) and the sightseeing tour are organized from Or.S.A and are free (max. 40 persons). The cost of the dinner on Friday evening in Rome is not included in the registration. To subscribe to the Or.S.A XVIII National Congress in Trevi: Fill in the registration form attached. The registration deadline is 15 September Register by to the following address: orsa@sindromediangelman.org (or by fax to ). Presidente ORSA Dott. Tommaso Prisco Tel Fax Cell priscotommaso@netgroup.it priscotommaso@alice.it; Iscr.Reg.Vol. TV O.N.L.U.S. C.C.Postale N IBAN IT 13 Y

3 Comitato d Onore/Honorary Committee Giuseppe PROFITI, Presidente OPBG Bruno DALLAPICCOLA, Direttore Scientifico OPBG Massimiliano RAPONI, Direttore Sanitario OPBG Direttore del Convegno/Conference Director Bruno DALLAPICCOLA, Ph.D Direttore Scientifico, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma Angelman Syndrome International Meeting Comitato Scientifico/Scientific Committee Lidia LARIZZA, Direttore Lab. di Citogenetica e Genetica Molecolare, Istituto Auxologico Italiano, Milano Maurizio ELIA, Direttore Scientifico; Istituto OASI, IRCCS, Troina (EN) Marco CECCHINI, NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Pisa Silvia RUSSO, Responsabile Dipartimento di Genetica Molecolare, Istituto Auxologico Italiano, Milano Informazioni Generali/General Information DATA E SEDE/DATE AND VENURE 11 ottobre 2013 Auditorium San Paolo October 11, 2013 Auditorium San Paolo ISCRIZIONI/REGISTRATIONS Al corso saranno ammessi i primi 150 iscritti che avranno inviato la scheda di iscrizione alla Segreteria Organizzativa. Non è prevista quota di iscrizione. The course will be admitted to the first 150 members who have sent in the registration form to the Organizing Secretariat. There is no registration fee 11 Ottobre 2013/October 11th 2013 Auditorium San Paolo Via Baldelli 38 Roma SEGRETERIA ORGANIZZATIVA/Organising Secretariat Servizio Eventi Formativi ECM Ospedale Pediatrico Bambino Gesù Piazza S. Onofrio, Roma Tel/Phone /2290/3768 Fax: 06/ congressi@opbg.net Con il patrocinio di Under the patronage of

4 Relatori/Speakers Programma Scientifico/Scientific Program Arthur L. Beaudet, M.D. Department of Molecular and Human Genetics Baylor College of Medicine - Houston, TX, U.S.A. University of North Carolina at Chapel Hill Department Cell Biology & Physiology - Chapel Hill, NC, USA Center for Neural Science- New York University-New York, NY, USA Harald H. Sitte, Ph.D. Medical University Vienna Center for Physiology and Pharmacology Vienna, Austria Martin Scheffner, Ph.D. Departement of Biology, University of Konstanz - Konstanz, Germany Silvia Russo, Ph.D. Department of Molecular Genetic Istituto Auxologico Italiano - Cusano Milanino (Mi), Italy Stormy J. Chamberlain Department of Genetics and Developmental Biology University of Connecticut Health Center - Farmington, CT, USA Ype Elgersma Ph.D. Neuroscience Institute, Erasmus University - Rotterdam, NL 8.30 Registrazione dei partecipanti/registration of participants 9.00 Saluti delle Autorità/Welcome remarks Prof. Giuseppe Profiti, Presidente Ospedale Bambino Gesù Dr. Tommaso Prisco, Presidente OR.S.A UBE3A/E6AP: Not just a ubiquitin-protein ligase? UBE3A/E6AP: non solo una ubiquitina protein-ligasi? Martin Scheffner Ph.D Investigating the impact of rare CNVs on the clinical heterogeneity of Angelman patients carrying deletion Studio dell impatto di CNV rare sull eterogeneità clinica dei pazienti deleti con sindrome di Angelman Silvia Russo, Ph.D Lessons learned from induced pluripotent stem cell models of Angelman syndrome Lezioni apprese dai modelli delle ips della sindrome di Angelman Stormy J. Chamberlain, Ph.D Coffee Preventing and reversing synaptic and memory deficits in Angelman syndrome Prevenire e revertire i deficit sinaptici e della memoria nella sindrome di Angelman The regulation of monoamine transporter function in Angelman Syndrome Regolazione funzionale del trasporto delle monoamine nella sindrome di Angelman Harald H. Sitte, Ph.D Mouse models to study AS: towards mechanisms and therapeutic strategies Modelli murini per lo studio della SA: verso i meccanismi e le strategie terapeutiche Ype Elgersma, Ph.D Brunch Pharmacogenetic insights into Angelman syndrome Uno sguardo alla farmacogenetica della sindrome di Angelman Towards molecular therapy for Angelman syndrome Verso la terapia molecolare della sindrome di Angelman Arthur L. Beaudet, M.D Discussion/Discussione.

5 Relatori/Speakers Aurelia Rivarola Ph.D. Dir. Centro Benede a D In no Milano University of North Carolina at Chapel Hill Department Cell Biology & Physiology Chapel Hill, NC, USA Center for Neural Science New York University New York, NY, USA Harald H. Si e, Ph.D. Medical University Vienna Center for Physiology and Pharmacology Vienna, Austria Mar n Scheffner, Ph.D. Departement of Biology, University of Konstanz Konstanz, Germany Maurizio Elia Ph.D. I.R.C.C.S. Ist. Oasi Maria S.S. Troina Paolo Bonanni Ph.D. I.R.C.C.S. Medea La Nostra Famiglia Conegliano Tv Silvia Russo, Ph.D. Department of Molecular Gene c Is tuto Auxologico Italiano Milano, Italy Stormy J. Chamberlain Department of Gene cs and Developmental Biology University of Connec cut Health Center Farmington, CT, USA Ype Elgersma Ph.D. Neuroscience Ins tute, Erasmus University Ro erdam, NL Participation Prices for days 11/12/13/ in full board Per person in double room Euro 160 Single room supplement Euro 50 Prices for 3/4 bed Children 0/5 years old Euro 60 Children 6/12 years old Euro 110 Adults Euro 150 To participate at the meeting,make a payment equal to 50% stating the reason of the payment (assemblea annuale 2013) and send via fax to ORSA,the application form with the copy (not original) of the payment made. For the children who will participate there will be a service of welcome with volunteers for the entire duration of the convention. OR.S.A ORGANIZZAZIONE SINDROME DI ANGELMAN Via Bressa n.8 Tel Fax C.F Iscr. Reg. Vol. TV 0209 ONLUS IBAN- - IT 13 Y UniCredit Treviso Codice Bic swift: UNCRITM1A11 XVIII MEETING OTTOBRE 2013 HOTEL DELLA TORRE S. S. FLAMINIA KM TREVI (PG) FREE ENTRY

6 Friday 11 OCTOBER Saturday 12 OCTOBER Sunday 13 O C T O B E R HOURS 16,00/18,00 Welcoming Committee HOURS 19,00 Dinner HOURS 21,00 Entertainment Hours 7,30 BREAKFAST Hours 9,15 University of North Carolina at Chapel Hill Department Cell Biology & Physiology Chapel Hill, NC, USA Hours 10,00 Center for Neural Science New York University New York, NY, USA Hours 10,45 Harald H. Si e, Ph.D. Medical University Vienna Center for Physiology and Pharmacology Vienna, Austria Hours 11,30 Mar n Scheffner, Ph.D. Departement of Biology, University of Konstanz Konstanz, Germany Hours 13,00 LUNCH Hours 15,00 Silvia Russo, Ph.D. Department of Molecular Gene c Is tuto Auxologico Italiano Milano, Italy Hours 15,45 Stormy J. Chamberlain Department of Gene cs and Developmental Biology University of Connec cut Health Center Farmington, CT, USA Hours ORE 17,00 Ype Elgersma Ph.D. Neuroscience Ins tute, Erasmus University Ro erdam, NL Hours 18,00 OR.S.A. Association Annual Meeting Hours 19,30 Dinner Hours 7,30 BREAKFAST PRESENTATION OF THE ITALIAN EXPERIENCE Hours 9,00 TREATMENT AND MANAGEMENT OF EPILEPSY Dr. Maurizio Elia Hours 10,15 Augmentative And Alternative Comunication (CAA) Dr. Aurelia Rivarola Hours 11,15 THERAPEUTIC INDICATIONS OF REHABILITATION Dr. Paolo Bonanni Hours 12,00 LUNCH

7 NATIONAL CONFERENCE OR.S.A /12/13 OCTOBER 2013 HOTEL DELLA TORRE VIA FLAMINIA KM.147 TREVI (PG) TEL APPLICATION FORM Surname, Name.. Address City Tel... Type of Room : Single Double Triple Quadruple Number of rooms booked Adults or more than 9 years n Children 0/5 years n Children 6/12 years n Adults in a 3/4 bed n Single room supplement n Companion (Babysitter) Single room Companion (Babysitter) Not in single room Total.... Please attach a copy of the payment made Firma: SEND THE SUBSCRIPTION FORM WITHIN 15 September POSSIBLE ½ FAX NUMBERS / , OR MAIL TO: OR.S.A. ORGANIZZAZIONE SINDROME DI ANGELMAN VIA BRESSA N.8