Gene breakthrough raises hope for young sisters

Charli, 8, (with dog Daisy) and Meg, 4, have ataxia, which affects their balance. Photo / Otago Daily Times

Two little girls have been given new hope after a genetic technology research breakthrough.

Charli, 8, and 4-year-old Meg Owen, who live in South Otago, have undiagnosed cerebellar ataxia, which affects their co-ordination and balance and makes them tire easily.

The sisters' geneticist, Cure Kids chairman Professor Stephen Robertson, has been working on some revolutionary research in conjunction with Professor Russell Snell of the Centre for Brain Research in Auckland. The research aims to deliver methods for diagnosing such disorders in the future.

"The nub of this family's issue is a neurological disorder, which affects the girls' gait and balance. Their ataxia is not associated with any intellectual disability; it's all about balance," he said this week.

"A lot of people have ataxia, but in this instance we've exhausted all the tests in conventional medicine to diagnose what form they have and we're now looking in the research arena for an answer for them.

"What has caused it in the family and what is the prognosis? That's the big question."

The human genetic constitution has about 21,000 genes accounting for about 1 per cent of a human's DNA.

"We can now filter out that fraction of the genome and sequence it. That version of the genetic code can then be compared with what we know to be a typical or healthy version. We're basically looking for spelling mistakes in that genetic haystack," he said.

The girls' parents, Jodie and Terry Owen, were buoyed by the news.

"It's very exciting. Hopefully they will be able to find the defective gene the girls have," Mrs Owen said.

"It would be nice to meet a family that has the same condition, especially someone who is a bit older than the girls, so they can see what they've got ahead of them."