SEPTEMBER 23-27, 2024, FOZ DO IGUAÇU, BRAZIL
FINAL PROGRAM (updated Oct,11)
SUNDAY, October 21, 2018
ARRIVALS
WELCOME DINNER (at hotel)
MONDAY, October 22, 2018
​8:00 - 8:30 a.m.
WELCOME ADDRESS â–º COURSE OBJECTIVES â–º INTRODUCTION OF PRESENTERS AND STUDENTS
Presenters: ROBERTO GIUGLIANI, Porto Alegre
​8:30 - 12:00
SESSION 1: INTRODUCTION TO LSDs
Chairperson: ROBERTO GIUGLIANI , Porto Alegre, Brazil
8:30 - 9:15
GENERAL OVERVIEW OF LSDS
Presenter: MICHAEL BECK, Mainz, Germany
9:15 - 10:00
CELL BIOLOGY AND BIOCHEMISTRY OF LYSOSOMES
Presenter: URSULA MATTE, Porto Alegre, Brazil
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:15
PATHOPHYSIOLOGY OF LSDs
Presenter: RAFAEL SCHIFFMANN, Dallas, USA
11:15 - 12:00
GENETIC ASPECTS OF LSDs
Presenter: LUIS FIGUERA, Guadalajara, Mexico
​12:00 - 14:00
LUNCH BREAK
​14:00 - 17:30
SESSION 2: MUCOPOLYSACCHARIDOSES
Chairperson: HERNAN AMARTINO, Buenos Aires, Argentina
14:00 - 14:45
CLINICAL ASPECTS OF MPS AND GLYCOPROTEINOSES
Presenter: JOSEPH MUENZER, Chapel Hill, NC, USA
14:45 - 15:30
BIOCHEMICAL AND GENETIC DIAGNOSIS
Presenter: MAIRA BURIN and URSULA MATTE, Porto Alegre, Brazil
​15:30 - 16:00
COFFEE BREAK
16:00 - 16:45
INTRAVENOUS ERT
Presenter: ROBERTO GIUGLIANI, Porto Alegre, Brazil
16:45 - 17:30
NEW THERAPIES FOR THE CNS
Presenter:JOSEPH MUENZER, Chapel Hill, NC, USA
​18:30 - 20:00
SESSION 3: CASE PRESENTATIONS – PREPARATION
Chairperson: MICHAEL BECK, Mainz, Germany
18:00 – 20:00
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Group work: students will be divided in groups and will make a preliminary presentation of the case to be reported, with the supervision of a faculty member (refreshments will be available at meeting rooms)
TUESDAY, October 23, 2018
​8:30 - 12:00
SESSION 4: FABRY DISEASE
Chairperson: LUIS FIGUERA, Guadalajara, Mexico
8:30 - 9:15
CLINICAL CHARACTERISTICS OF FABRY DISEASE IN MALES, FEMALES AND CHILDREN
Presenter: UMA RAMASWAMI, London, UK
9:15 - 10:00
BIOCHEMICAL AND MOLECULAR DIAGNOSIS OF FABRY DISEASE
Presenter: MAIRA BURIN & URSULA MATTE, Porto Alegre, Brazil
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:15
ENZYME REPLACEMENT AND OTHER THERAPIES
Presenter: MICHAEL BECK (Mainz, Germany)
11:15 - 12:00
LONG-TERM OUTCOMES
Presenter: RAPHAEL SCHIFFMANN, Dallas, TX, USA
​12:00 - 14:00
LUNCH BREAK
​14:00 - 17:30
SESSION 5: GAUCHER DISEASE
Chairperson: MICHAEL BECK, Mainz, Germany
14:00 - 14:45
CLINICAL ASPECTS
Presenter: GREGORY PASTORES, Dublin, Ireland
14:45 - 15:30
BIOCHEMICAL AND GENETIC DIAGNOSIS
Presenter: PAULA ROZENFELD, La Plata, Argentina
​15:30 - 16:00
COFFEE BREAK - OFFICIAL PICTURE
16:00 - 16:45
NEUROLOGICAL MANIFESTATIONS
Presenter: HERNAN AMARTINO, Buenos Aires, Argentina
16:45 - 17:30
TREATMENT AND FOLLOW-UP
Presenter: GREGORY PASTORES, Dublin, Ireland
WEDNESDAY, October 24, 2018
​8:30 - 12:00
SESSION 6: NEURODEGENERATIVE LSDs
Chairperson: LUIS FIGUERA, Guadalajara, Mexico
8:30 - 9:15
MECHANISMS OF NEURODEGENERATION
Presenter: HERNAN AMARTINO, Buenos Aires, Argentina
9:15 - 10:00
NIEMANN-PICK C AND DEFECTS OF LYSOSOMAL MEMBRANE
Presenter: MARIE VANIER, Lyon, France
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:15
LEUCODYSTROPHIES
Presenter: HERNAN AMARTINO, Buenos Aires, Argentina
11:15 - 12:00
STEM CELL TRANSPLANTATION
Presenter: CARMEN BOMFIM, Curitiba, Brazil
12:00 - 12:45
INFLAMMATION IN LSDs
Presenter: PAULA ROZENFELD, La Plata, Argentina
THURSDAY, October 25, 2018
​​
SESSION 7: CASE REPORTS
Chairperson: LUIS FIGUERA, Guadalajara, Mexico
Moderators: JUAN FRANCISCO CABELLO, Santiago, Chile and UMA RAMASWAMI, London, UK
8:30 - 12:00
Presentation of cases by the students and discussion with faculty members
​
​12:00 - 14:00
LUNCH BREAK
14:00 - 17:30
SESSION 8: WRAP-UP
Chairperson: ROBERTO GIUGLIANI, Porto Alegre, Brazil
14:00 - 14:45
NEUROLIPIDOSES, LIPOFUSCINOSES AND POMPE DISEASE
Presenter: JUAN FRANCISCO CABELLO, Santiago, Chile
14:45 - 15:30
GUIDELINES FOR THE LABORATORY DIAGNOSIS OF LSDs
Presenter: MARIE VANIER, Lyon, France
​15:30 - 16:00
COFFEE BREAK
16:00 - 16:45
SCREENING FOR LSDs
Presenter: ROBERTO GIUGLIANI, Porto Alegre, Brazil
16:45 - 17:30
FUTURE PROSPECTS
Presenter: MICHAEL BECK, Mainz, Germany
​
17:30 -
CLOSURE
Presenter: ROBERTO GIUGLIANI, Porto Alegre, Brazil
FRIDAY, October 26, 2018
CHECK-OUT and DEPARTURES
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