Andrés Klein, PhD, Associate Professor and Director of the Doctorate Program in Sciences and Innovation in Medicine at Universidad del Desarrollo, Santiago, Chile, discusses the identification of genetic modifiers for treatment in lysosomal disorders.
Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic diseases. They are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
Dr. Klein’s research is looking into why patients may present with varying disease severities while having the same genetic mutations. Through the use of animal models, candidate genes and pathways have been identified. Recently, the findings have been mimicked in human patients.
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To learn more about rare lysosomal storage diseases, visit https://checkrare.com/diseases/lysosomal-storage-disorders/