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COURSE PROGRAM

MONDAY, September 23, 2024

ARRIVALS / WELCOME RECEPTION / CHECK-IN

SESSION 1

16:00 - 16:40

Welcome and Introduction

to IEM and LSDs
R Giugliani (Brazil)

16:40 - 17:20

Cell Biology and Biochemistry of Lysosomes 

Guilherme Baldo (Brazil)

17:20 - 18:00

Pathophysiology of LDs
Carlos Prada (USA/Colombia)

18:00 - 18:40

Clinical Overview and Genetic Aspects of LDs   Luis Figuera (Mexico)

20:00 - DINNER (at hotel)

TUESDAY, September 24, 2024

​8:00 - 12:30

SESSION 2

8:00 - 8:40

CLINICAL ASPECTS, MANAGEMENT, AND TREATMENT OF GAUCHER DISEASE   

Gregory Pastores (UK)

8:40 - 9:20

BIOCHEMICAL AND GENETIC DIAGNOSIS OF GAUCHER DISEASE 
Paula Rozenfeld (Argentina)

9:20 - 10:00

TBD
Uma Ramaswami (UK)

​10:00 - 10:30 - COFFEE BREAK - OFFICIAL PICTURE

10:30 - 11:10

CLINICAL ASPECTS, MANAGEMENT, AND TREATMENT OF POMPE DISEASE

Hernan Amartino (Argentina)

11:10 - 11:50

BIOCHEMICAL AND GENETIC DIAGNOSIS OF POMPE DISEASE

Francyne Kubaski (USA/Brazil)

11:50 - 12:30

VARIANT INTERPRETATION GUIDELINES FOR LDs

Filippo Vairo (USA/Brazil)

SPONSORED TALK

​12:00 - 14:00

LUNCH

OPTIONAL   NETWORKING  ACTIVITY

20:00

DINNER (at hotel)

WEDNESDAY, September 25, 2024

​8:00 - 16:00

SESSION 3

8:00 - 8:40

CLINICAL ASPECTS, MANAGEMENT, AND TREATMENT OF FABRY DISEASE

Raphael Schiffmann (USA) 

8:40 - 9:20

BIOCHEMICAL AND GENETIC DIAGNOSIS OF FABRY DISEASE

Francyne Kubaski (USA)

9:20 - 10:00

CLINICAL ASPECTS, MANAGEMENT, AND TREATMENT OF GM1 AND GM2 GANGLIOSIDOSES

Hernan Amartino (Argentina) 

​10:00 - 10:30

COFFEE BREAK

10:30 - 11:10

CLINICAL ASPECTS OF MPS AND MUCOLIPIDOSES 

Joseph Muenzer (USA)

11:10 - 11:50

BIOCHEMICAL AND GENETIC DIAGNOSIS OF MPS AND ML

Francyne Kubaski (USA/Brazil)

11:50 - 12:30

TREATMENT FOR MPS: APPROVED THERAPIES AND NEW DEVELOPMENTS 

Joseph Muenzer (USA)

SPONSORED TALK

​12:30 - 14:00

LUNCH

14:00 - 14:40

ALPHA-MANNOSIDOSIS AND OTHER OLIGOSACCHARIDOSES

Julia Hennermann (Germany)

14:40 - 15:20

NEURODEGENERATION AND LEUKODYSTROPHIES

Hernan Amartino (Argentina)

15:20 - 16:00

HEMATOPOIETIC STEM CELL TRANSPLANTATION IN LEUKODYSTROPHIES 

16:00 - 16:40

SESSION 4

14:40 - 15:20

NEURODEGENERATION AND LEUKODYSTROPHIES

Hernan Amartino (Argentina)

​16:00 - 16:40

COFFEE BREAK 

16:40 - 18:40

GROUP WORK: PRELIMINARY PRESENTATION OF CASES TO FACULTY MEMBERS (REFRESHMENTS WILL BE AVAILABLE)

20:00

DINNER (at hotel)

THURSDAY, September 26, 2024

​8:00 - 12:30

SESSION 5

8:00 - 8:40

NIEMANN-PICK TYPE C AND DEFECTS OF LYSOSOMAL MEMBRANE

Marie Vanier (France) 

8:40 - 9:20

CLINICAL ASPECTS, MANAGEMENT, AND TREATMENT OF ASMD

Gregory Pastores (UK) 

9:20 - 10:00

NEWBORN SCREENING FOR LDs

Carlos Prada (USA/Colombia)

​10:00 - 10:30

COFFEE BREAK

10:30 - 11:10

INFLAMMATION AND LDs

Paula Rozenfeld (Argentina)

11:10 - 11:50

HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR LDs

11:50 - 12:30

GENE THERAPY IN LDs

Raphael Schiffmann (USA)

SPONSORED TALK

​12:30 - 14:00

LUNCH

OPTIONAL   NETWORKING  ACTIVITY

20:00

DINNER (at hotel)

FRIDAY, September 27, 2024

​8:00 - 12:30

SESSION 6

8:00 - 10:00

PRESENTATION OF SELECTED CASES BY THE STUDENTS AND DISCUSSION WITH FACULTY MEMBERS 

Luis Figuera (Mexico) and Uma Ramaswami (UK)

SPONSORED TALK

​10:00 - 10:30

COFFEE BREAK

10:30 - 11:10

POTENTIAL ROLE OF GENOME EDITING FOR THE TREATMENT OF LDs

Guilherme Baldo (Brazil)

11:10 - 11:50

DIAGNOSIS OF LDs IN THE MULTI-OMIC ERA

Filippo Vairo (USA/Brazil)

11:50 - 12:30

KEY TAKEWAYS / CLOSURE

Roberto Giugliani (Brazil)

​12:30 - 14:00

LUNCH

​14:00

CHECK-OUT AND DEPARTURES

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