Australia's First Adult Stem Cells for Rare Genetic Disease

A successful collaboration between Australian researchers has resulted in the development of the country's first adult induced pluripotent stem cells (iPS) coming from skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).

This is actually the first time that adult iPS are developed for a specific disease in Australia, and it is a major step forward in new treatments for FA, as well as for related conditions like diabetes and heart disease.

This type of cells can be obtained from the reprogramming of adult cells, like skin cells, and are very much like embryonic stem cells – meaning they can generate any cell type of the body.

The co-leaders of the study from the University of Melbourne, Dr Alice Pébay and Dr Mirella Dottori, analyzed Friedreich Ataxia iPS cells and determined them to become specific cell types – including heart cells and nerves, that normally have functioning problems in the disease.

Dr Pébay said that “by focusing on the heart and nerve cell types, we hope to be able to develop treatments to improve heart function and the loss of movement experienced by patients with FA.”

Ms Varlli Beetham, Executive Director of FARA said that this finding gives real hope for people suffering from the debilitating condition.

“We are proud to have supported this research effort and look forward to the next stage of research, the development of new trial treatments,” she added.

Dr Dottori reminded that this research could not have been achieved without the contribution of a large network of experts and support from the Friedreich Ataxia Research Association (Australasia) (FARA-A) and the Friedreich Ataxia Research Alliance (FARA) in the United States.

She said that “it is the collective effort of clinicians, scientists, patients and FARA that has made this discovery possible.”

Friedreich Ataxia affects one in 30,000 people worldwide, and Dr Paul Verma of the Monash Institute of Medical Research said this research could have applications in other diseases too.

“Due to the number of symptoms experienced by people with FA, including diabetes and heart disease, this resource could be applied to developing treatment for those conditions and helping even more people,” he said.

This research was carried out by the University of Melbourne and Monash Institute of Medical Research in collaboration with the Murdoch Children’s Research Institute, Monash University, Austin Health and the O’Brien Institute, and it is published in the current online edition of the international journal Stem Cell Reviews and Reports.