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 ► COURSE OBJECTIVES ► 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

  • 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

+55 51 3330 1700

Phone/Fax

+55 51 3330 1701

 

Address:
 
Rua Ramiro Barcelos, 1954/406
 
- Porto Alegre - RS - Brazil -
 
CEP: 95670-000