Gene tech research may aid diagnosis

Posted: August 2, 2013 at 2:43 pm

Charli (8, left) and sister Meg (4), with Daisy at home in Kaitangata this week. Photo by Helena de Reus.

Charli (8) and Meg (4) Owen, of Kaitangata, have undiagnosed cerebellar ataxia, which affects their co-ordination and balance and makes them tire easily.

The sisters' geneticist, Cure Kids chairman Prof Stephen Robertson, has been working on some revolutionary research in conjunction with Prof Russell Snell, of the Centre for Brain Research in Auckland.

The research aimed 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,'' he said.

''It's clearly genetic, but the precise cause is proving hard to pinpoint.

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

"We might find something that's brand new knowledge here, but in the end I hope it provides new and useful information for the family,'' Prof Robertson said.

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

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Gene tech research may aid diagnosis

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