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Investigating cardiovascular disease in Friedreich’s ataxia using human induced pluripotent stem cells

Masters/PhD project

Friedreich’s ataxia (FRDA) is an autosomal recessive disease characterized by degeneration of neurons and heart disease. Reduced frataxin (FXN) protein due to GAA repeat expansions within the first intron of the FXN gene results in mitochondrial dysfunction and iron accumulation leading to increased oxidative stress and cell death in the nervous system and heart. There is currently no treatment to effectively cure, halt or even slow the progression of FRDA. This project aims to generate patient-specific cardiovascular cells from induced pluripotent stem cells to establish novel human FRDA disease models for disease modelling and drug discovery.
The knowledge and skills involved in this project are suitable for students who are interested in stem cell biology, cardiovascular disease, and mitochondrial biology. A student working on this project will have the opportunity to learn various experimental skills, including; cell culture, protein and gene analysis, histology and mitochondrial assays.

Supervised by:

  • Dr Shiang (Max) Lim
  • Dr Jarmon Lees (Post-doctoral Fellow)
  • Disease Focus:

  • Rare diseases
  • Heart disease
  • Research Unit:

  • Cardiac regeneration
  • For further information about this project, contact: [email protected]