COURSE PROGRAM

SUNDAY, October 16, 2022

ARRIVALS

WELCOME RECEPTION 

MONDAY, October 17, 2022

8:00 - 8:30 a.m.

WELCOME ADDRESS ► COURSE OBJECTIVES ► INTRODUCTION OF SPEAKERS AND STUDENTS

Speaker: Roberto Giugliani (Porto Alegre, Brazil)

​8:30 - 12:00

SESSION 1: INTRODUCTION TO LSDs
Chairperson: Roberto Giugliani, (Porto Alegre, Brazil)

8:30 - 9:15

CELL BIOLOGY AND BIOCHEMISTRY OF LYSOSOMES

Speaker: Guilherme Baldo (Porto Alegre, Brazil)

9:15 - 10:00

PATHOPHYSIOLOGY OF LSDs

Speaker: Raphael Schiffmann (Dallas, TX, USA)

​10:00 - 10:30 - COFFEE BREAK

10:30 - 11:15

CLINICAL OVERVIEW OF LSDs

Speaker: Michael Beck (Mainz, Germany)

11:15 - 12:00

GENETIC ASPECTS AND MOLECULAR DIAGNOSIS OF LSDs

Speaker: Luis Figuera (Guadalajara, Mexico)

​12:00 - 14:00 - LUNCH BREAK

​14:00 - 15:30

SESSION 2: GAUCHER DISEASE
Chairperson: Hernan Amartino (Argentina, Buenos Aires)

14:00 - 14:30

CLINICAL ASPECTS OF GAUCHER DISEASE

Speaker: Gregory Pastores (London, UK)

14:30 - 15:00

BIOCHEMICAL AND GENETIC DIAGNOSIS OF GAUCHER DISEASE

Speakers: Paula Rozenfeld (La Plata, Argentina)

15:00 - 15:30

GAUCHER DISEASE: MANAGEMENT AND FOLLOW-UP

Speaker: Gregory Pastores (London, UK)

​15:30 - 16:00  -  COFFEE BREAK

​16:00 - 18:00

SESSION 3: POMPE DISEASE
Chairperson: Michael Beck (Mainz, Germany)

16:00 - 16:30

CLINICAL ASPECTS OF POMPE DISEASE

Speaker: Hernan Amartino (Buenos Aires, Argentina)

16:30 - 17:00

BIOCHEMICAL AND GENETIC DIAGNOSIS OF POMPE DISEASE

Speakers: Maira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)

17:00 - 17:30

POMPE DISEASE: MANAGEMENT AND FOLLOW-UP

Speaker: Uma Ramaswami (London, UK)

17:30 - 18:00

Refreshments

​18:00 - 20:00

SESSION 4: CASE PRESENTATIONS – PREPARATION

Chairperson: Michael Beck (Mainz, Germany)

  • 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 18, 2022

​8:30 - 10:30

SESSION 5: FABRY DISEASE

Chairperson:: Luis Figuera (Guadalajara, Mexico)

8:30 - 9:00

CLINICAL ASPECTS OF FABRY DISEASE

Speaker: Uma Ramaswami (London, UK)

09:00 - 09:30

BIOCHEMICAL AND GENETIC DIAGNOSIS OF FABRY DISEASE

SpeakersMaira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)

09:30 - 10:00

FABRY DISEASE: MANAGEMENT AND FOLLOW-UP

Speaker: Michael Beck (Mainz, Germany)

​10:00 - 10:30

COFFEE BREAK

10:30 - 12:00

SESSION 6: GANGLIOSIDOSES
Chairperson: Filippo Vairo (Rochester, MN, USA)

10:30 - 11:15

GM1 GANGLIOSIDOSIS: CLINICAL ASPECTS AND MANAGEMENT 

Speaker: Hernan Amartino (Buenos Aires, Argentina)

11:15 - 12:00

GM2 GANGLIOSIDOSIS: CLINICAL ASPECTS AND MANAGEMENT 

Speaker: Michael Beck (Mainz, Germany)

​12:00 - 14:00

LUNCH BREAK 

14:00 - 17:30

SESSION 7: MUCOPOLYSACCHARIDOSES
Chairperson: Hernan Amartino (Buenos Aires, Argentina)

14:00 - 14:45

CLINICAL ASPECTS OF MPS AND GLYCOPROTEINOSES 

Speaker: Joseph Muenzer (Chapel Hill, NC, USA)

14:45 - 15:30

BIOCHEMICAL AND GENETIC DIAGNOSIS OF MPS AND GLYCOPROTEINOSES

Speaker: Maira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)

​15:30 - 16:00

COFFEE BREAK 

16:00 - 16:45 

TREATMENT FOR MPS: APPROVED THERAPIES

Speaker: Roberto Giugliani (Porto Alegre, Brazil)

16:45  - 17:30

TREATMENT FOR MPS: NEW THERAPIES

Speaker: Joseph Muenzer (Chapel Hill, NC, USA)

WEDNESDAY, October 19, 2022

​8:30 - 12:00

SESSION 8: NEURODEGENERATIVE LSDs

Chairperson: Luis Figuera (Guadalajara, Mexico)

8:30 - 9:15

NIEMANN-PICK TYPE C AND DEFECTS OF LYSOSOMAL MEMBRANE

Speaker: Marie Vanier (Lyon, France)

9:15 - 10:00

NIEMNEURODEGENERATION AND LEUKODYSTROPHIES

Speaker: Hernan Amartino (Buenos Aires, Argentina)

10:00 - 10:30

COFFEE BREAK

10:30 - 11:00

ACID SPHINGOMYELINASE DEFICIENCY: CLINICAL ASPECTS AND MANAGEMENT

Speaker: Marie Vanier (Lyon, France)

11:00 - 12:00

HEMATOPOIETIC STEM CELL TRANSPLANTATION IN LSDS

Speaker: Carmem Bonfim (Curitiba, Brazil)

12:00 - 14:00

LUNCH BREAK

THURSDAY, October 20, 2022

SESSION 9: CASE REPORTS
Chairperson: Luis Figuera (Guadalajara, Mexico)

Moderators: Filippo Vairo (Rochester, MN, USA) 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

13:30 - 17:30

SESSION 10: WRAP-UP

Chairperson: Roberto Giugliani (Porto Alegre, Brazil)

13:30 - 14:15

INFLAMMATION AND LSDs

Speaker: Paula Rozenfeld (La Plata, Argentina)

14:15 - 14:45

NEWBORN SCREENING FOR LSDs

Speaker: Roberto Giugliani (Porto Alegre, Brazil)

​14:45 - 15:15

COFFEE BREAK

15:15 - 16:00

DIAGNOSIS OF LSDs IN THE GENOMIC ERA

Speaker: Filippo Vairo (Rochester, MN, USA)

16:00 - 16:30

GENE THERAPY

Speaker: Raphael Schiffmann (Dallas, TX, USA)

16:30 - 17:00

GENOME EDITING

Speaker: Guilherme Baldo (Porto Alegre, Brazil)

17:00 - 17:30

FUTURE PROSPECTS

Speaker: Michael Beck (Mainz, Germany)

17:30 -

CLOSURE

Speaker: Roberto Giugliani (Porto Alegre, Brazil)

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FRIDAY, October 21, 2022

CHECK-OUT and DEPARTURES