Late and Attenuated Presentations in Lysosomal Storage Disorders

This CME workshop will focus on basic mechanisms, varied clinical phenotypes, and establishing goals for disease monitoring and various treatment strategies for late onset/attenuated types of LSDs.

This symposium supported by Education Grants from Sanofi Genzyme, Amicus Therapeutics, Pfizer, Protalix BioTherapeutics and Ultragenyx

LSDs in focus

·         Fabry disease

·         Gaucher disease

·         Pompe disease

·         Tay-Sachs disease

·         Mucopolysaccharidoses (MPS)

·         Niemann-Pick Type C1


  • Kazuya Tsuboi, M.D.

    Director, LSD Center, Nagoya Central Hospital, Japan

  • Shoshana Revel-Vilk, M.D.

    Gaucher Unit, Pediatric Hematology Unit Shaare Zedek Medical Center, Jerusalem, Israel

  • Mia Horowitz, Ph.D

    Dept. Cell Research and Immunology, Tel Aviv University,Ramat Aviv, Israel

  • Nina Raben, M.D., Ph.D

    Division of Muscle Biology, National Institutes of Health, Maryland, USA

  • Orna Staretz-Chacham, M.D.

    Senior Neonatologist, Metabolic Clinic at Soroka Medical Centre Beersheva, Israel

  • Raphael Schiffmann, M.D., M.H.Sc., FAAN

    Director, Institute of Metabolic Disease, Baylor Research Institute Texas, USA

  • Deborah Elstein , Ph.D


  • Silvia Muro, Ph.D

    Associate Professor of Bioengineering, University of Maryland, USA

  • Uma Ramaswami FRCPCH, M.D.

    Consultant in Inherited Metabolic Disorders Clinical Lead, Lysosomal Disorders Unit
    Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust
    Pond Street, London

  • Pranoot Tanpaiboon, M.D., FACMGG

    Associate Medical Director, Advanced Diagnostics - Genetics, Genomics and R&D, Biochemical Genetics , Quest Diagnostics , San Juan Capistrano, CA , USA

  • Ibrahim T. Ozbolat, Ph.D

    Harzt Family Associate Professor , Penn State University , PA, USA

  • Hanna Rosenbaum M.D.

    Head of Hematology clinic, Hematology Day care unit and Center for Gaucher disease. The center for Consultant Medicine, Clalit, Nazareth, Israel

  • Claudia Cozma 

    Vice President High Throughput Testing & Biomarker Development, Centogene, Germany

  • Swati Sathe, M.D., MS

    Director of Neurogenetics Division, Director Inpatient Neurology, Northwell Health, Staten Island University Hospital, USA

  • Ellen Sidransky, M.D.

    Chief, Section on Molecular Neurogenetics MGB, National Human Genome Research Institute, USA

  • James Shayman, M.D.

    Professor, Internal Medicine, University of Michigan, USA

  • Heather A. Lau, M.D. M.S.

    Assistant Professor, Child Neurology, Director, Lysosomal Storage Disorders Program
    Neurogenetics Division Department of Neurology,New York University School of Medicine, USA

  • Asa Abeliovich, M.D., Ph.D

    Founder & CEO of Prevail Therapeutics, USA