Personalizing Therapeutic Decisions in Fabry Disease

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.


  • 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