University study aiming to transform lives of newborn babies

·2-min read
The Radcliffe Camera in Oxford. Picture: Ed Nix
The Radcliffe Camera in Oxford. Picture: Ed Nix

AN OXFORD study is leading the way in transforming the lives of newborn babies.

In the UK, every five days a baby is born with spinal muscular atrophy (SMA), a genetic condition which makes the muscles weaker and causes problems with movement.

In March, the University of Oxford launched a pilot study – the first in the UK – aiming to make it possible to detect SMA within days of birth, before symptoms develop.

If treated later, when SMA is identified because of the symptoms, babies may survive, but with a severe disability.

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The university estimates that newborn screening will save about 70 babies each year in the UK from disability, with babies receiving diagnosis and treatment at the earliest possible opportunity.

A family in Northern Ireland has backed calls for a test at birth.

Shauna McRory, from County Tyrone, told BBC News NI that newborn screening is ‘vital’.

Her son Ezra was diagnosed with SMA in November.

She told the BBC that her family was lucky a healthcare visitor was ‘very on the ball’.

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“She was out to visit us at two weeks and noticed his reflexes weren’t what they should be,” said Ms McRory.

“That was a Friday – we were seen by a paediatrician on Monday, had tests done Tuesday and received the results on Thursday.

“Thank God his diagnosis was so quick. He probably wouldn’t still be with us if it was any later.”

Typical symptoms of SMA include floppy or weak arms and legs, movement problems, twitching or shaking muscles, and an unusually curved spine.

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This story was written by Liam Rice, he joined the team in 2019 as a multimedia reporter.

Liam covers politics, travel and transport. He occasionally covers Oxford United.

Get in touch with him by emailing: Liam.rice@newsquest.co.uk

Follow him on Twitter @OxMailLiamRice

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