SEPTEMBER 23-27, 2024, FOZ DO IGUAÇU, BRAZIL
COURSE PROGRAM
MONDAY, September 23, 2024
ARRIVALS / WELCOME RECEPTION / CHECK-IN
SESSION 1
Chair: Roberto Giugliani (Brazil)
16:00 - 16:40
Welcome and Introduction
to IEM and LSDs
Roberto 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 - WELCOME DINNER - GRAND ROOM (at the hotel)
TUESDAY, September 24, 2024
​8:00 - 12:30
SESSION 2
Chair: Luis Figuera (Mexico)
8:00 - 8:40
MECHANISM OF NEURODEGENERATION IN THE LDS
Hernan Amartino (Argentina)
8:40 - 9:20
CLINICAL ASPECTS AND MANAGEMENTOF GAUCHER DISEASE, ASMD, AND CESD
Gregory Pastores (UK)
9:20 - 10:00
BIOCHEMICAL AND GENETIC DIAGNOSIS OF GAUCHER DISEASE
Paula Rozenfeld (Argentina)
​10:00 - 10:30 - COFFEE BREAK - OFFICIAL PICTURE
10:30 - 11:10
CLINICAL ASPECTS OF MPS AND RELATED DISEASES
Joseph Muenzer (USA)
11:10 - 11:50
BIOCHEMICAL AND GENETIC DIAGNOSIS OF MPS AND MUCOLIPIDOSES
Francyne Kubaski (USA/Brazil)
11:50 - 12:30
TREATMENT FOR MPS AND RELATED DISEASES: APPROVED THERAPIES AND NEW DEVELOPMENTS
Joseph Muenzer (USA)
​12:30 - 13:00
LUNCH BOX - DEPARTURE AT 1 PM
NETWORKING ACTIVITY
20:00
DINNER (at hotel)
WEDNESDAY, September 25, 2024
​8:00 - 16:00
SESSION 3
Chair: Filippo Vairo (USA)
8:00 - 8:40
GM1 AND GM2 GANGLIOSIDOSES
Hernan Amartino (Argentina)
8:40 - 9:20
CLINICAL ASPECTS AND MANAGEMENT OF POMPE DISEASE
Uma Ramaswami (UK)
9:20 - 10:00
BIOCHEMICAL AND GENETIC DIAGNOSIS ASMD AND POMPE DISEASE
Francyne Kubaski (USA/Brazil)
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:10
LYSOSOMAL LEUKODYSTROPHIES
Marie Vanier (France)
11:10 - 11:50
CLINICAL ASPECTS AND MANAGEMENT OF FABRY DISEASE
Raphael Schiffmann (USA)
11:50 - 12:30
BIOCHEMICAL AND GENETIC DIAGNOSIS OF FABRY DISEASE
Uma Ramaswami (UK)
​12:30 - 14:00
LUNCH
14:00 - 14:40
HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR LDS
Natalia Gomez-Ospina (USA/Colombia)
14:40 - 15:20
VARIANT INTEPRETATION GUIDELINES FOR LDS
Filippo Vairo (USA/Brazil)
15:20 - 16:00
DRUG DEVELOPMENT PROCESS FROM THE BENCH TO THE PHARMACY
Guilherme Baldo (Brazil)
​16:00 - 16:40
COFFEE BREAK
16:40 - 18:40
SESSION 4
Chair: Luis Figuera (Mexico)
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
Chair: Hernan Amartino (Argentina)
8:00 - 8:40
NIEMANN PICK C DISEASE
Marie Vanier (France)
8:40 - 9:20
OVERVIEW OF SELECTED LESS FREQUENT LDS (DANON, CYSTINOSIS, FARBER, ETC.)
Gregory Pastores (UK)
9:20 - 10:00
INFLAMMATION AND LDs
Paula Rozenfeld (Argentina)
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:10
NEONATAL SCREENING FOR LDS
Carlos Prada (USA/Colombia)
11:10 - 11:50
DIAGNOSIS OF LDS IN THE MULTI-OMIC ERA​
Filippo Vairo (USA/Brazil)
11:50 - 12:30
KEY SKILLS AND INSIGHTS FOR EMERGING LD SPECIALISTS
Uma Ramaswami, Gregory Pastores, Joseph Muenzer, Raphael Schiffmann, Marie Vanier
​12:30 - 14:00
LUNCH
OPTIONAL NETWORKING ACTIVITY
20:30
OFFICIAL DINNER - CLUB HOUSE (at the hotel)
FRIDAY, September 27, 2024
​8:00 - 12:30
SESSION 6
Chair: Roberto Giugliani (Brazil)
8:00 - 10:00
PRESENTATION OF SELECTED CASES BY THE STUDENTS AND DISCUSSION WITH FACULTY MEMBERS
Chair: Luis Figuera (Mexico)
Facilitator: Uma Ramaswami (UK)
​10:00 - 10:30
COFFEE BREAK
10:30 - 11:10
GENE THERAPY FOR LDS
Raphael Schiffmann (USA)
11:10 - 11:50
GENOME EDITING AND NOVEL APPROACHES FOR THE TREATMENT OF LDS
Natalia Gomez-Ospina (USA/Colombia)
11:50 - 12:30
LDS DIAGNOSIS AND THERAPY LANDSCAPE / KEY TAKEWAYS / CLOSURE
Roberto Giugliani (Brazil)
​12:30 - 14:00
LUNCH
​14:00
CHECK-OUT AND DEPARTURES
Sponsors:
Gold
Bronze
Silver
Special Sponsorship
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