RARECast: New Diagnostic Offers Fast Answers For Group of Rare Diseases


Lysosomal storage disorders are a group of genetic rare diseases that can manifest themselves in a diverse set of symptoms and can be difficult to diagnose. Now Courtagen Life Sciences has brought to market LysoSEEK, a next-generation genetic tests for sequencing 94 genes associated with nearly 60 metabolic disorders. The new test provides an alternative to the piecemeal testing that can provide a long, slow, and costly path to an answer. We spoke to Richard Boles, medical director of Courtagen, about this group of diseases, the importance a faster diagnosis can play in minimizing irreversible damage, and how the new test changes the diagnostic landscape for these patients.

RARECast is a weekly series by Daniel S. Levine. Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. He founded Levine Media Group in 2013, which produces The Bio Report and RARECast podcasts. Read his full bio here. 

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