World Orphan Drug Congress USA 2017
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Tackling the Rare Diseases therapy deficit –the nonsense mutation read-through agent

Mark Rothera, PTC Therapeutics, long time friend of the World Orphan Drug Congress USA, joined us once again in 2016. His presentation  "Tackling the Rare Diseases therapy deficit –the nonsense mutation read-through agent",   provided delegates with unique insight into Translarna™ (ataluren). 

Since the establishment of the orphan drug act in 1983, the orphan drug industry continues to shine and grow steadily in the competitive billion-dollar R&D landscape. Not only because of the chance to help those patients who are in most need, but because the support from the different stakeholders in this space, is unprecedented. In 2015, the FDA approved 21 orphan drugs and 2016 seems to be on track to be one of the most decisive years for the rare disease community with key (and controversial) developments like the approval of the first drug for DMD.  

However there is still huge need for treatments! Translarna™(ataluren) has the potential to address an array of rare diseases by reading through a nonsense codon. 

This new strategic approach to the treatment of rare diseases will be a focus of Mark's presentation in 2017. 

Tackling the rare disease deficit – the advent of oral mutation specific therapies

  • The nonsense mutation read-through agent represents a novel platform for treating many rare diseases
  • Insights from Translarna (ataluren) studies in nonsense mutation DMD, CF and beyond
  • The alternative splicing platform and its application to SMA & Huntington’s Disease

It's not too late to join him! 




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