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Personalizing Therapeutic Decisions in Fabry Disease

Jan Lukas, PhD Chiara Cimmaruta L Liguori Dr. rer. nat. Supansa Pantoom Katharina Iwanov Janine Petters Christina Hund Maik Bunschkowski Andreas Hermann, MD Maria Cubellis Prof. Arndt Rolfs, MD
January 31, 2020

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

More than a single treatment option is available for some genetic disorders. For Fabry Disease, the optimal choice requires biochemical characterization of the causative mutation. Using a novel assay, researchers from Rostock University and CENTOGENE have now re-investigated almost 200 Fabry mutations. Their findings, which have profound therapeutic implications, were published in the International Journal of Molecular Sciences.