april, 7 and 8 , 2016 iii eda 3rd european day of...
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III EDA 3rd European Day of Albinism Medical SectionAssociation SectionPsyco pedagogical Section
LOMBARDY REGION BUILDINGPiazza Città di Lombardia, Milan, Italy
APRIL, 7th AND 8th , 2016
ALBINIT with Niguarda Hospital organize, at the Lombardy Region
Building in Milan, the Third European Days of Albinism (IIIEDA).
Meeting point for researchers focused on albinism, international
associations of patients and their families to discuss both scientific and
social aspects of this rare pathology, exchanging ideas, projects and
initiatives.
A satellite meeting concerning the psyco-pedagogic aspects of this
disease will be held simultaneously.
The meeting is divided into three sections:
• Room 5
Medical Section: Physicians, Biologists and Researchers (only for operators in the
albinism sector) - p.1ECM credits: 8.40
• Room 4
Associations Section:only for representatives of Associations - p.6
• Room Biagi
Psyco pedagogical Section: Orthoptists, Speech therapists, Laboratory technicians, social and
health educators - p.8ECM credits: 4.90
The Opening Ceremony and the Plenary final session are in the Room Biagi.
MEDICAL SECTION
8.00 - 8.30
8.30-9.00
9.00-10.00
9.00-9.20
9.20-9.40
9.40-10.00
10.00-11.30
10.00-10.20
Registration Opening ceremonyRepresentative of the Region, G.P.Gesu, A.Marocchi, R.Masto, L.Paschetta, E.Tronconi
SCIENTIFIC SESSION I: CLINICAL DEFINITION OF ALBINISM
Chair: I.Gottlob, E.Piozzi
Expanding the phenotype of albinism?B.Käsmann-Kellner
Phenotypic spectrum in FHONDA and albinismM.Van Genderen
Discussion
SCIENTIFIC SESSION II: CLINICAL AND MOLECULAR DIAGNOSIS OF ALBINISM
Chair: K.Grønskov, S. Scalinci
Postnatal retinal development in albinism as compared to healthy controlsI.Gottlob
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10.20-10.40
10.40-10.55
10.55-11.15
11.15-11.30
11.30-12.00
12.00-13.30
12.00-12.20
12.20-12.35
12.35-12.50
12.50-13.05
13.05-13.30
13.30-14.40
Visual cortex in albinism - anatomy and functionM.Hoffmann
Contribution of electrofunctional examinations in albinism diagnosisA.P.Tormene
Molecular diagnostic approaches: Targeted sequencing, exome, array-CGH?B.Arveiler
Discussion
Coffee break
SCIENTIFIC SESSION III: EUROPEAN DIAGNOSTIC EXPERIENCES
Chair: A.Del Longo, A.Taïeb, P.Primignani
Clinical and molecular experience in DenmarkK.Grønskov
Clinical and molecular experience in ItalyL.Mauri , R.Terrana
Albino Day in MadridM.Cortón
Albino Day in BordeauxF.Maurice-Picard
Discussion
Lunch break
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14.40-16.00
14.40-15.00
15.00-15.20
15.20-15.40
15.40-16.00
16.00-16.30
16.30-18.10
16.30-16.50
16.50-17.10
17.10-17.30
17.30-17.50
17.50-18.10
SCIENTIFIC SESSION IV: PATHOGENESIS OF ALBINISM
Chair: L.Montoliu, M.V.Schiaffino
Understanding visual defects in albinism using mouse and cellular modelsA.Rebsam
Syndromicalbinismdisordersaffectingmembranetraffickingduring melanosome formationM.Marks
Evidence for melanosomal channels and transporters critical for pigmentationE.Oancea
Discussion
Coffee/Tea break
SCIENTIFIC SESSION V: BEYOND EYES
Chair:B. Arveiler, S.Penco
Oculocutaneous albinism in East and Southern AfricaP.Lund
Skin photoprotection issues in albinismA.Taïeb
Dermatological characterization in Italian albinosD. Calò
Audiologicaldeficitsinalbinos:correlationwithgenetic/clinicalphenotypeG.Mingoia
Discussion
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8/4/2016
8.30-10.00
8.30-8.45
8.45-9.05
9.05-9.20
9.20-9.40
9.40-10.00
10.00-10.30
10.30-13.30
10.30-11.00
11.00-11.20
SCIENTIFIC SESSION VITECHNICAL SUPPORT AND THERAPEUTIC FRONTIERS
Chair: B.Käsmann-Kellner, A.Del Longo
VisualmanagementtraininginlowvisionpatientsF.Fabiani
Pharmacological therapyB.Brooks
Definingsafetyandefficacyend-pointsforOCAIgenetherapy-based clinical studiesE.Surace
NewanimalmodelsofalbinismgeneratedwithCRISPRtoolsL.Montoliu
Discussion
FINAL SCIENTIFIC DISCUSSION
Chair: I. Gottlob, A.Marocchi, L.Montoliu, M.V.Schiaffino
PLENARY FINAL SESSION
SummaryofscientificpresentationsB.Käsmann-Kellner , M.C.Patrosso
Summary of psycho pedagogical presentationsM. Nalli
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11.20-11.50
11.50-12.00
12.00-12.10
12.10-12.20
12.20-13.30
Summary of association’s presentationsA. Glikshon
“Kindness for Kid”
Dermatological prevention F. Brunetta
Photograficproject“EverycoloroftheWhite”presentation
Global discussion - Suggestions about guide lines on Albinism- Proposal for the next meeting
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6
ASSOCIATIONS SECTION
8.00 - 8.30
8.30-9.00
9.00-18.30
9.00-10.00
10.00-13.30
11.45-12.10
13.30-14.40
14.40-18.15
16.00-16.30
Registration Opening ceremonyRepresentative of the Region, G.P.Gesu, A.Marocchi, R.Masto, L.Paschetta, E.Tronconi
MORNING SESSION
PresentationsofnewonlineAssociations
Report Section on activities in different countries Defense of the Albino rights
Coffee break
AllianceswithPublicAdministrations
Initiativesofsocialandscientificdisclosureonthisraregenetic condition
Albinism and technologies
Lunch break
EVENING SESSION
“Wina”ProjectPresentation:mobilityandnewfrontiers
Coffee/Teabreak
AlbinismandEuropeanfederation:stateofartandnewsteps
EuropeandAfrica:alliancesandprojects
7/4/2016
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10.30-13.30
10.30-11.00
11.00-11.20
11.20-11.50
11.50-12.00
12.00-12.10
12.10-13.30
PLENARY FINAL SESSION
SummaryofscientificpresentationsB.Käsmann-Kellner , M.C.Patrosso
Summary of psycho pedagogical presentationsM. Nalli
Summary of association’s presentationsA. Glikshon
“Kindness for Kid”
Dermatological Prevention
Globaldiscussion-Presentationofleaflet/bookonalbinismforthe general public-Proposal for the next meeting
8/4/2016
PSYCO PEDAGOCICAL SECTION
8.00 - 8.30
8.30-9.00
9.00-10.00
9.00-9.20
9.20-9.40
9.40-10.00
10.00-11.00
10.00-10.20
10.20-10.40
Registration Opening ceremonyRepresentative of the Region, G.P.Gesu, A.Marocchi, R.Masto, L.Paschetta, E.Tronconi
I SESSION
Chair: E. Tronconi
The special needs in the education of albino childrenL.D’Alonzo
Verona response to the needs of young families: “Associative supportdeskforvisuallyimpairedchildrenforfamilyaware-nessandfortherehabilitationplanning,afterfirstdiagnosis”M.Nalli
WhobenefitedfromtheprojectHypovision:HelpSpace.Detailed quantitative and qualitative considerationsG.Zampieri
II SESSION
Chair: L. D’Alonzo
The experience at the Center for Pediatric Ophthalmology of Verona:theinteractionbetweenclinicians,familiesandeducator of Help Space!E.Gussone, I.Tomaello
Wheretheresistancetoresiliencearehigher:supportresidentialprojectsE.Vlacos
7/4/2016
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10.40-11.00
11.00-11.50
11.00-11.15
11.15-11.35
11.35-11.50
11.50-12.10
12.10-13.30
12.10-12.30
12.30-12.50
From the analysis of the request to the understanding of child withvisualimpairmentintheconsultationstageattheFondazione Robert HollmanE. Mercuriali
III SESSION
Chair: M. Nalli
The multisensoriality as resource and educational strategyM.Boneschi
A rehabilitative approach for integrating visually impaired child:theexperienceofthechildrenlowvisioncenterIRCCS.E.MedeaG.Giammari, D.Valli
The experience of the Blind Institute of Milan: the educational activitiesforpupilswithalbinisminthecontextofservicesforvisually impairedF. Lisi
Coffee break
III SESSION
Chair: E. Piozzi
Dyslexia, pathophysiology and rehabilitationS.Scalinci
The taking into care of the visually impaired child rehabilitation for different age groups: the intervention model of Chiossone InstituteE.Cocchi
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12.50-13.10
13.10-13.30
13.30-14.30
14.30-18.30
16.45-17.15
The achievement of the autonomy in the visual impaired person: can be done?S.Presti
The visually impaired student: strategies for school inclusionS.Benedan
Lunch break
ROUND TABLESTATE OF THE ART OF THE LAWS IN MATTERS OF INCLUSION
Chair: F.Castronovo, R.Di Lorenzo, R.Garlaschelli, G.Merlo,S. Nocera, S.Parolini, L.Paschetta, L.Pellegrini Marchesini
Mapoftheeducationalservicesforchildrenwithsensorydisabilities offered by the region
The usefulness of educational support Help Desk
The services offered by CTS-NTD: the case of Como
Thealternationbetweenschoolandwork,animportanttoolforthelifeprojectofpeoplewithalbinism
The role and responsibilities of the supporting teacher
AnassociativeexperienceofwelcomeandserviceinSicily
School and social inclusion
Discussion and Conclusion
Coffee/Teabreak
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MEDICAL SECTION SPEAKERS ARVEILER BENOÎTGeneticist Medical GeneticUniversity of Bordeaux, F
MARTA CORTÒNBiomedical Research Genetics and Genomics Department Institute–Jimenez Diaz Foundation University Hospital, E
ALESSANDRA DEL LONGO OphtalmologistPaediatric OphthalmologyNiguarda Hospital, Milan, IT
FLAVIA FABIANI OphthalmologistHypovision CenterOspedali Riuniti di Bergamo, IT
IRENE GOTTLOB OphtalmologyOphthalmology GroupUniversity of Leicester, UK
KAREN GRØNSKOV Ophthalmogenetic ResearcherCellular and Molecular MedicineKennedy Medical Genetics, DK
MICHAEL HOFFMANN OphthalmologistOphthalmology DepartmentUniversity of Magdeburg, D
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PATRICIA LUND GeneticistSchool of Life ScienceFaculty of Health and Life Sciences, UK
BARBARA KÄSMANN-KELLNER OphthalmologistDepartment of Ophthalmology University of Saarland, D
MICHAEL S MARKS PathologistDepartment of Pathology and Laboratory MedicineChildren’s Hospital of Philadelphia Research Institute, USA
ALESSANDRO MAROCCHI Pathologist“Emeritus Department Head” Niguarda Hospital, Milan, IT
RODOLFO MASTO Special Commissioner Istituto dei Ciechi di Milano, IT
LUCIA MAURI GeneticistMedical GeneticsNiguarda Hospital, Milan, IT
GIUSEPPE MINGOIA OtolaryngologistORL ClinicUniversità di Milano Bicocca, IT
LLUIS MONTOLIU Research Scientist Department of Molecular and Cellular Biology Centro Nacional de Biotecnologìa, E
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DONATA CALO’DermatologistMedicine DepartmentNiguarda Hospital, Milan, IT
ELENA OANCEA Researcher Department of Molecular Pharmacology, Physiology and Biotechnology BrownUniversity,USA
LUCIANO PASCHETTA DirectorIstituto per la Ricerca la Formazione e la Riabilitazione, IT
MARIA CRISTINA PATROSSO GeneticistEthics CommitteeNiguarda Hospital, Milan, IT
SILVANA PENCO GeneticistMedical GeneticNiguarda Hospital, Milan, IT
FANNY MAURICE PICARD Paediatric DermatologistDepartment of Paediatric DermatologyBordeaux University Hospital, F
ELENA PIOZZI OphthalmologistPaediatric Ophthalmology Niguarda Hospital, Milan, IT
PAOLA PRIMIGNANIGeneticistMedical GeneticNiguarda Hospital, Milan, IT
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ALEXANDRA REBSAM ResearcherInstitut du Fer à Moulin INSERM, F
SERGIO SCALINCI OphthalmologistLowVisionAcademyUniversità degli Studi of Bologna, IT
MARIA VITTORIA SCHIAFFINO ResearcherGroup Leader, DibitSan Raffaele Hospital, Milano, IT
ENRICO MARIA SURACE ResearcherTIGEMTelethon Institute of Genetics and Medicine
ALAIN TAÏEB DermatologistDepartment of DermatologyUniversity of Bordeaux, F
ROBERTA TERRANA OphthalmologistPaediatric OphthalmologyNiguarda Hospital, Milan, IT
ALMA PATRIZIA TORMENE President International Society for Clinical Electrophysiology of Vision, IT
ELISA TRONCONI President ALBINIT, IT
MARIA VAN GENDERNOphthalmologistDepartment of Visual DiagnosticsBartiméus Institute for the Visually impaired, NL
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PSYCO PEDAGOGICAL SECTION SPEAKERSSONIA BENEDANTiflologaServizio socio-educativoCentro Non Vedenti -Brescia
MARCO BONESCHIPsicologoAssociazione Nazionale Subvedenti
FRANCO CASTRONOVO Docente di TecnologiaArea Sostegno alla Persona (DA, DSA, BES) - Como
ELENA COCCHI PsicologaIstituto David Chiossone per i Cechi e gli IpovedentiCentro di Riabilitazione delle Disabilità Visive
LUIGI D’ALONZOPedagogistaCentro studi e ricerche sul disagio e le povertà educative universitarieUniversità Cattolica di Milano
ROCCO DI LORENZO Presidente Associazione Retinopatici ed Ipovedenti Siciliani - ARIS
RITA GARLASCHELLI InsegnanteUfficioscolasticoperlaLombardia
GIUSEPPINA GIAMMARINeuropsichiatra InfantileCentro Ipovisione dell’Età EvolutivaIRCCS “E. MEDEA” – La Nostra Famiglia, (Lecco)
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ELENA GUSSON OftalmologoIstituto di Clinica Oculistica Università di Verona
FRANCO LISIDirettoreScientificoDirigenza Istituto dei Ciechi - Milano
GIOVANNI MERLO Direttore Lega per i Diritti delle Persone con DisabilitàFederazione Regionale Lombarda - FISH
MARCELLA NALLIPedagogistaProgetto vederesentireSocioCulturale Cooperativa Sociale Onlus - Mestre , Venezia
SALVATORE NOCERAAvvocatoFederazione Italiana per il Superamento dell’Handicap - Roma
STEFANO PAROLINI RappresentanteSettore Socio Educativo e Socio AssistenzialeSocioCulturale Cooperativa Sociale onlus - Mestre, Venezia
LUCIANO PASCHETTA PsicologoFederazione Associazioni Nazionali Disabili
LUCIA PELLEGRINI MARCHESINIRappresentante ALBINIT
ELENA PIOZZIOftalmologaOculistica PediatricaOspedale Niguarda, Milano
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SEBASTIANO PRESTIVice PresidenteAssociazione Nazionale Istruttori Orientamento Mobilità Autonomia Personale Brescia
SERGIO SCALINCI OftalmologoLowVisionAcademyUniversità degli Studi of Bologna
ELENA MERCURIALIPsicologaFondazione R. Hollman - Padova
ILARIA TOMAELLOOrtottistaOculisticaA.O. Universitaria Integrata di Verona
ELISA TRONCONIPresidente ALBINIT
DANIELA VALLIPedagogistaAssociazione La Nostra Famiglia IRCCS “E.Medea”, (Lecco)
ELENA VLACOSPsicoterapeuta Servizio di Neuropsichiatria Infantile Fondazione Istituto Neurologico Nazionale “C. Mondino”, (Pavia)
GIOVANNI ZAMPIERIPedagogistaCe.Di.SmaUniversità Cattolica di Milano
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REGISTRATION
Medical sectionPhysicians, Biologists and Researchers (only for operators in the albinism sector)
ECM credits: 8.40
Online Registration:albinit.org/progetti/IIIEDA
Maximum number of participants: 80
Registration cost:• 250,00 € for Physician, Biologist or Researcher (information regarding
includedserviceson(http://albinit.org/progetti/IIIEDA/)• 80,00€forStudent–Fellow-Laboratorytechnicians• free registration for internal employees
The meeting will be held in English
Psyco pedagocical sectionOrthoptists, Speech therapists, Laboratory technicians, social and health educators
ECM credits: 4.90 (creditswillbeawardedtoteachersandUniversitystudents)
Online Registration:albinit.org/progetti/IIIEDA
Maximum number of participants: 200
Registration cost:• 80,00€ • free registration for internal employees
L’incontro si terrà in italiano.
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SCIENTIFIC ADVISORELENA PIOZZI Paediatric Ophthalmology DirectorNiguarda Hospital, Milan, IT
SECRETARIATMaria Cristina Patrosso [email protected]
HOWTOREACHTHEMEETINGLombardyRegionBuildingcanbereachedwithMM2(Gioiastop)
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