SESSION 1

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16:00 - 16:40

• Welcome and Introduction to LACLSD

16:40 - 17:20

• Cell Biology and Biochemistry of Lysosomes 

17:20 - 18:00

• Pathophysiology of LDs

18:00 - 18:40

• Clinical Overview and Genetic Aspects of LDs

SESSION 2

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08:00 - 08:40

• Clinical Aspects and Managementof Gaucher disease and ASMD

08:40 - 09:20

• Biochemical and Genetic Diagnosis of Gaucher Disease 

09:20 - 10:00

• Clinical Aspects and Management of Pompe Disease

10:00 - 10:30

• Official Picture / Cooffee Break 

10:30 - 11:10

• Biochemical and Genetic Diagnosis of Pompe Disease

11:10 - 11:50

• Acid Sphingomyelinase Deficiency

11:50 - 12:30

• Alpha-Mannosidosis and other Glycoproteinoses   

12:30 - 14:00

• Lunch

14:00 - 14:40

• Hematopoietic Stem Cell Transplantation for LDs

14:40 - 15:20

• Mechanism of Neurodegeneration in the LSDs

15:20 - 16:00

• Niemann Pick C and other Lysosomal Membrane Diseases

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SESSION 3

16:00 - 16:40

• Coffee Break

16:40 - 18:40

• Group work: preliminary presentation of cases by delegates to faculty members (refreshments will be available)  

• SESSION 4

08:00 - 08:40

• Clinical Aspects and Management of Fabry Disease

08:40 - 09:20

• Biochemical and Genetic Diagnosis of Fabry Disease

09:20 - 10:00

• Key Questions about Fabry Disease (open discussion) leaded by

10:00 - 10:30

• Coffee Break 

10:30 - 11:10

• Clinical Aspects of MPS and Related Diseases

11:10 - 11:50

• Biochemical and genetic diagnosis of MPS and Mucolipidoses

11:50 - 12:30

• Treatment for MPS and Related Diseases: Approved Therapies and New Developments   

12:30 - 14:00

• Sponsored Talk / Lunch

14:00

• Optional Networking Activity

SESSION 5

08:00 - 08:40

• GM1 and GM2 Gangliosidoses 

08:40 - 09:20

• Leucodystrophies

09:20 - 10:00

• Inflammation and LDs

10:00 - 10:30

• Coffee Break 

10:30 - 11:10

• Drug Development Process from the bench to the pharmacy

11:10 - 11:50

• Variant Intepretation Guidelines for LDs 

11:50 - 12:30

• Key Skills and Insights for Emerging LD Specialists 

12:30 - 14:00

• Lunch

14:00 - 14:40

• Neonatal Screening for LSDs

14:40 - 15:20

• Diagnosis of LDs in the Multiomic Era

15:20 - 16:00

• What an emerging LSD specialist should learn and understand?

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SESSION 6

 

16:00 - 16:40

• Coffee Break

16:40 - 18:40

• Group work: preliminary presentation of cases by delegates to faculty members (refreshments will be available)

SESSION 7

 

08:00 - 10:00

• Presentation of selected cases by the students and discussion with faculty members
   

SESSION 8

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10:00 - 10:30

• Coffee Break 

10:30 - 11:10

• Gene Therapy for LDs

11:10 - 11:50

• Potential of Genome Editing for the Treatment of LDs

11:50 - 12:30

• LDs Diagnosis and Therapy Landscape / Key Takeways / Closure

12:30 - 14:00

• Lunch

 

14:00

• Check out and departures