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NRI scientist edges closer to cure for genetic diseases

Sydney, Jan 21 Scientists are edging closer to a potential cure for debilitating genetic diseases like Huntington's disease, Friedreich's ataxia and Fragile X syndrome, thanks to a recent breakthrough led by an Indian Australian.

The finding is the outcome of collaboration between a team led by Sureshkumar Balasubramanian of Queensland University School of Biological Sciences and Detlef Weigel at the Max Planck Institute for Developmental Biology in Germany.

Balasubramanian studies how different environmental conditions modulate developmental processes in plants. Specifically he aims to understand how plants respond to changes in temperature at a molecular mechanistic level.

The study identifies an expansion of a repeat pattern in the DNA of the plant Arabidopsis thaliana that has striking parallels to the DNA repeat patterns observed in humans suffering from neuronal disorders such as Huntington's disease and Fredereich's ataxia.

"It opens up a whole new array of possibilities for future research, some of which could have potential implications for humans," Balasubramanian said.

The types of diseases the research relates to, which are caused by "triplet repeat expansions" in DNA, become more severe through the generations but were difficult to study in humans due to the long timeframes involved, said a university release.

A plant model with a relatively short lifespan would allow scientists to study DNA mutations over several generations, Balasubramanian said.

The study was published in the January edition of Science.

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