Researchers at the Australian Institute for Bioengineering and Nanotechnology (AIBN) are a step closer to understanding and combating the degenerative brain disease ataxia-telangiectasia.
As part of a collaborative project, Associate Professor Ernst Wolvetang's AIBN research group has reprogrammed, for the first time, skin cells from people with the disease so they can study the effectiveness of potential treatments.
The collaborators are from the Queensland Institute of Medical Research (QIMR) and The University of Queensland's Centre for Clinical Research (UQCCR) led by Professor Martin Lavin.
The reprogramming involves taking skin cells, generating pluripotent stem cells and turning them into brain cells for study in the lab.
People with ataxia-telangiectasia develop cancer and brain degeneration because a gene that recognises and repairs DNA damage is defective.
Associate Professor Wolvetang said the ability to reprogram skin cells from children with ataxia-telangiectasia provided a renewable resource to study the neurodegeneration and find medicines to combat it.
The next step is to correct the genetic mutations in the induced pluripotent stem cellsfrom these patients and then turn these corrected stem cells into brain and blood cells and demonstrate these can replace the defective cells that cause the problems in this disease, Associate Professor Wolvetang said.
Delivery of such corrected cells, which is still some years away, or novel drugs discovered using the cells generated in this study may help in treating this disease.
The researchers could start screening medicines in one to two years, but testing in animals would have to be completed before they could be used in humans.
Professor Lavin said the research had benefited from combining his QIMR and UQCCR research group's expertise with that of Associate Professor Wolvetang's AIBN group.
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Step closer to understanding childhood degenerative brain disease
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