Between March and June 2012, Stem Cells Australia hosted Jorien van Rooijen, a fourth year medical student from the University of Amsterdam. During her 16 week stay, Jorien has worked with Stem Cells Australia’s Dr Mirella Dottori to investigate the use of induced pluripotent stem cells as a disease model for Friedreich’s Ataxia.
Friedreich’s Ataxia is a rare neurodegenerative disease caused by the presence of an expanded trinucleotide repeat sequence (GAA) in the first intron of both copies of the frataxin (FXN) gene. This results in lower synthesis of the mitochondrial protein Frataxin resulting in mitochondrial dysfunction and finally cell death.
Currently there is a lack of appropriate models to study Friedreich’s Ataxia pathogenesis and potential therapies. To address this limitation, induced pluripotent stem cells have been generated from Friedreich’s Ataxia patients by Drs Dottori, Pebay and colleagues (Liu et al, Stem Cell Reviews and Reports). Jorien’s project involved examining the survival of nerves generated from Friedreich’s Ataxia-iPS cells to investigate their usefulness as a disease model.
Jorien has had a long-term interest in stem cell science and had previously visited Professor Martin Pera when he was at the University of Southern California in Los Angeles.
We wish Jorien all the best in her studies and have been delighted that her internship at Stem Cells Australia and the University of Melbourne has contributed towards her medical degree.