Modelling familial dysautonomia in human induced pluripotent stem cells

Gabsang Lee, Lorenz Studer

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Induced pluripotent stem (iPS) cells have considerable promise as a novel tool for modelling human disease and for drug discovery. While the generation of disease-specific iPS cells has become routine, realizing the potential of iPS cells in disease modelling poses challenges at multiple fronts. Such challenges include selecting a suitable disease target, directing the fate of iPS cells into symptom-relevant cell populations, identifying disease-related phenotypes and showing reversibility of such phenotypes using genetic or pharmacological approaches. Finally, the system needs to be scalable for use in modern drug discovery. Here, we will discuss these points in the context of modelling familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy III (HSAN-III)), a rare genetic disorder in the peripheral nervous system. We have demonstrated three disease-specific phenotypes in FD-iPS-derived cells that can be partially rescued by treating cells with the plant hormone kinetin. Here, we will discuss how to use FDiPS cells further in high throughput drug discovery assays, in modelling disease severity and in performing mechanistic studies aimed at understanding disease pathogenesis. FD is a rare disease but represents an important testing ground for exploring the potential of iPS cell technology in modelling and treating human disease.

Original languageEnglish (US)
Pages (from-to)2286-2296
Number of pages11
JournalPhilosophical Transactions of the Royal Society B: Biological Sciences
Issue number1575
StatePublished - Jul 4 2011
Externally publishedYes


  • Disease modelling
  • Drug discovery
  • Human genetic disease
  • Human induced pluripotent stem cells
  • Peripheral nervous system
  • Stem cells

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology
  • General Agricultural and Biological Sciences


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