Discovery a mammoth effort

AMAZING ACHIEVEMENT: Ryan Taft is a scientist who believes he has discovered a gene responsible for a rare disorder which causes intellectual disability in children. Picture: Adam Armstrong Source: The Courier-Mail

A YOUNG Brisbane scientist has played a key role in identifying a new medical condition that has solved a mystery for the families of 10 children across the globe.

In the genetic equivalent of finding a needle in a haystack, researcher Ryan Taft linked four-year-old Melbourne boy Massimo Damiani's neurological problems to defects in a gene, known as DARS.

To validate his discovery, 35-year-old Dr Taft worked with neurologists worldwide to find nine more children with similar symptoms to Massimo who also tested positive for DARS gene defects.

The new disorder was named HBSL, or Hypomyelination of the Brain stem and Spinal cord leading to Leg spasticity.

Massimo's father Stephen said to have a cause for his son's degenerative brain condition had given him "overwhelming relief".

GENE GENIE: Massimo Damiani, 4, with dad Stephen, has made medical history thanks to scientist Ryan Taft. Picture: Stuart Walmsley

"We're now looking at the next stage to try to treat the disorder," he said.

To isolate the rogue gene, Dr Taft compared Massimo's entire genome sequences with his parents'.

"If you were to line up every letter in Massimo's genome data, it would go around the Earth 44 times and we were looking for one letter," Mr Damiani said.

To donate to Dr Taft's research, visit imb.uq.edu.au/donate

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