Event Information

This symposium focuses on the use of biomarkers to diagnose, treat, and monitor patients with Lysosomal Storage Diseases (LSDs). Short scientific presentations set the stage to review a series of LSD patient cases that have unexpected clinical twists. Attendees will be immersed in the evolution of biomarkers in LSDs, exploring emerging strategies to track disease progression and therapeutic response, gaining skills on clinical decision-making and personalization efforts in GD, MPS II, and MLD.

This educational Satellite Symposia is not a part of the official ACMG Annual Meeting program. ACMG does not approve or endorse any commercial products or services discussed during the session or offered for sale by the organizer of the event.

Learning Objectives

Upon completion of the activity, participants should be able to:

  • Describe the history and evolution of biomarkers in the diagnosis and monitoring of Lysosomal Storage Diseases (LSDs)
  • Appraise the value of new and emerging disease-specific biomarkers to detect early pathologies, track disease progression, and monitor response to therapy
  • Evaluate how omics-driven biomarker development strategies can support clinical decision-making and personalization efforts in GD (Gaucher disease), MPS II (Mucopolysaccharidosis type II), and MLD (Metachromatic leukodystrophy)


  • Welcome and Introductions
  • The History and Evolution of Biomarkers in Lysosomal Storage Diseases (LSDs)
    • Case 1: Real World Examples of Biomarker Utilization in Patients With Gaucher Disease (GD)
  • The Latest Evidence for Emerging, Disease Specific Biomarkers in LSDs
    • Case 2: Practical Patient Scenario to Assess Emerging Biomarkers in Mucopolysaccharidosis type II (MPS II)
  • How Metabolomics and Proteomics Are Shaping the Future of LSD Management
    • Case 3: Illustrating Metabolomic and Proteomic Technologies Within Metachromatic Leukodystrophy (MLD)
  • Audience Questions and Answers
  • Summary of Key Points and Wrap-up

Register to Attend

Faculty Presenters

Barbara K. Burton, MD (Chair)

Priya Kishnani, MD, MBBS

Marc Patterson, MD


Attending Physician
Professor of Pediatrics
Genetics, Birth Defects & Metabolism
Northwestern University Feinberg School of Medicine
Ann & Robert H. Lurie Children’s Hospital of Chicago
Chicago, Illinois


Chen Family Distinguished Professor of Pediatrics
Chief, Division of Medical Genetics
Duke University School of Medicine
Durham, North Carolina


Professor of Neurology, Pediatrics, & Medical Genetics
Chair, Division of Child and Adolescent Neurology
Mayo Clinic
Rochester, Minnesota

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