SEPTEMBER 23-27, 2024, FOZ DO IGUAÇU, BRAZIL
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: Gregory Pastores (London, UK)
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 - 17:30
SESSION 3: POMPE DISEASE
Chairperson: Marie Vanier (Lyon, France)
16:00 - 17:00
POMPE DISEASE: CLINICAL ASPECTS, MANAGEMENT AND FOLLOW-UP
Speaker: Hernan Amartino (Buenos Aires, Argentina)
17:00 - 17:30
BIOCHEMICAL AND GENETIC DIAGNOSIS OF POMPE DISEASE
Speakers: Maira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)
17:30 - 18:00 - REFRESHMENTS
18:00 - 20:00
SESSION 4: CASE PRESENTATIONS – PREPARATION
Chairperson: Filippo Vairo (Rochester, MN, USA)
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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 18, 2022
8:30 - 10:00
SESSION 5: FABRY DISEASE
Chairperson:: Luis Figuera (Guadalajara, Mexico)
8:30 - 9:30
FABRY DISEASE: CLINICAL ASPECTS, MANAGEMENT AND FOLLOW-UP
Speaker: Raphael Schiffmann (Dallas, TX, USA)
09:30 - 10:00
BIOCHEMICAL AND GENETIC DIAGNOSIS OF FABRY DISEASE
Speakers: Maira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)
10:00 - 10:30
COFFEE BREAK
10:30 - 12:00
SESSION 6: GANGLIOSIDOSES
Chairperson: Gregory Pastores (London, UK)
10:30 - 11:30
GM1 AND GM2 GANGLIOSIDOSIS: CLINICAL ASPECTS AND MANAGEMENT
Speaker: Hernan Amartino (Buenos Aires, Argentina)
11:30 - 12:00
SPONSORED TALK
GENE THERAPY FOR GM1 GANGLIOSIDOSIS AND OTHER NEURODEGENERATIVE DISEASES
Speaker: David Weinstein (Philadelphia, PA, USA)
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
Speaker: Joseph Muenzer (Chapel Hill, NC, USA)
14:45 - 15:00
ALPHA-MANNOSIDOSIS AND GLYCOPROTEINOSES
Speaker: Joseph Muenzer (Chapel Hill, NC, USA)
15:00 - 15:40
BIOCHEMICAL AND GENETIC DIAGNOSIS OF MPS AND GLYCOPROTEINOSES
Speaker: Maira Burin (Porto Alegre, Brazil) and Francyne Kubaski (Greenwood, SC, USA)
15:40 - 16:10
COFFEE BREAK
16:50 - 17:30
TREATMENT FOR MPS: NEW THERAPIES
Speaker: Joseph Muenzer (Chapel Hill, NC, USA)
16:10 - 16:50
TREATMENT FOR MPS: APPROVED THERAPIES
Speaker: Roberto Giugliani (Porto Alegre, Brazil)
WEDNESDAY, October 19, 2022
8:30 - 12:00
SESSION 8: OTHER 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
NEURODEGENERATION AND LEUKODYSTROPHIES
Speaker: Hernan Amartino (Buenos Aires, Argentina)
10:00 - 10:30
COFFEE BREAK
10:30 - 11:15
ACID SPHINGOMYELINASE DEFICIENCY: CLINICAL ASPECTS AND MANAGEMENT
Speaker: Marie Vanier (Lyon, France)
11:15 - 12:00
NEWBORN SCREENING FOR LSDs
Speaker: Roberto Giugliani (Porto Alegre, Brazil)
12:00 - 13:30
LUNCH BREAK
THURSDAY, October 20, 2022
8:30 - 11:30
SESSION 9: CASE REPORTS
Chairpersons: Luis Figuera (Guadalajara, Mexico) and Filippo Vairo (Rochester, MN, USA)
PRESENTATION OF CASES BY THE STUDENTS AND DISCUSSION WITH FACULTY MEMBERS
11:30 - 13:00
LUNCH BREAK
13:00 - 17:30
SESSION 10: WRAP-UP
Chairperson: Roberto Giugliani (Porto Alegre, Brazil)
13:00 - 13:45
INFLAMMATION AND LSDs
Speaker: Paula Rozenfeld (La Plata, Argentina)
13:45 - 14:45
HEMATOPOIETIC STEM CELL TRANSPLANTATION IN LSDs
Speaker: Carmem Bonfim (Curitiba, 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
GENOME EDITING
Speaker: Guilherme Baldo (Porto Alegre, Brazil)
16:30 - 17:30
GENE THERAPY AND FUTURE PROSPECTS
Speaker: Raphael Schiffmann (Dallas, TX, USA)
17:30 -
CLOSURE
Speaker: Roberto Giugliani (Porto Alegre, Brazil)
FRIDAY, October 21, 2022
CHECK-OUT and DEPARTURES