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February 01, 2013 (Vol. 33, No. 3)

CF GeneE

  • Very nice animations/videos
  • None
Platform: iPad  
Cost: Free

While limited in scope to cystic fibrosis, CF GeneE is a great medical app whose design and premise could easy be applied to other genetically inherited diseases (take note, app designers out there!). Designed by Vertex Pharmaceuticals, CF GeneE provides animations and videos illustrating the effects of common mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that lead to cystic fibrosis disease. While the app could benefit from a brief introduction explaining the symptoms of cystic fibrosis and how those symptoms arise from deficits in chloride ion conductance, the animations clearly demonstrate the effects of the various mutations on ion transport, and the videos nicely explain the difference between a premature stop codon mutation and a folding/trafficking defect, to name a few.

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