Lunch & Learn Webinar #2 - Biomarkers in Lysosomal Storage Diseases
Missed the live session? No worries!
8 April 2025
Online
Join Professor Hans Aerts as he discusses biomarkers that can help diagnose and monitor Lysosomal Storage Diseases (LSDs), with particular focus on Gaucher disease (GD).
This session covers:
- Discovery and application of several plasma protein biomarkers selectively secreted by storage macrophages (Gaucher cells)
- Insights into sphingoid base lipids as novel biomarkers in GD and other sphingolipidoses like Fabry disease
- Understanding the value of biomarkers for diagnosis, monitoring disease manifestation and following response to therapeutic interventions
About Professor Hans Aerts
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Professor Hans Aerts chaired the department of Medical Biochemistry at Amsterdam UMC and later Leiden University. His research focuses on glycosphingolipids in health and disease with special attention for inherited lysosomal storage disorders like GD, as well as neurodegeneration and the Metabolic Syndrome.
He is co-founder and honorary president of the European Working Group on Gaucher Disease (IWGGD) and has contributed to the first applications of enzyme replacement therapy and substrate reduction therapy of GD1, as well as the discovery of widely used biomarkers.
Who should watch?
This webinar is ideal for:
- Hematologists
- Metabolic Specialists
- Clinical Biochemists
Part I: Understanding Lysosomal Storage Diseases and Gaucher Disease
Explore the historical background of LSDs with focus on Gaucher disease, including its discovery, genetic basis, and diverse clinical manifestations. Professor Aerts explains the pathophysiology of Gaucher disease as a macrophage disorder and discusses how GBA1 gene mutations affect enzyme function and disease progression.
Part II: Treatment Approaches for Lysosomal Storage Disorders
Learn about established therapeutic strategies for Gaucher disease, focusing on enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). This section details how these treatments target macrophages, reviews their historical development, and compares their efficacy in reducing organ volume and improving hematological parameters.
Part III: Biomarkers in Diagnosis and Monitoring
Discover key biomarkers used in LSDs, including chitotriosidase, CCL18, and glucosylsphingosine. This section explains their biological significance, laboratory measurement techniques, and clinical applications in diagnosis, disease monitoring, and treatment assessment, with special attention to their use in dried blood spots and emerging biomarker research.
