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Cash boost for screening babies in Sheffield

New gene machine at Sheffield Children's Hospital to test for rare diseases

New gene machine at Sheffield Children's Hospital to test for rare diseases

Researchers in Sheffield devising new methods of screening babies for rare and inherited conditions have been awarded more than £840,000 towards their work.

The cash will allow researchers at Sheffield Children’s Hospital to use a hi-tech ‘gene machine’ to generate detailed diagnoses for the parents of newborn babies across the country.

Three state-of-the-art gene sequencers are already being used at the hospital to help identify illnesses in young patients.

Each of the devices allows up to 100 genes to be tested at once, rather than one at a time, cutting waiting times for results to weeks rather than months.

The £842,355 grant was awarded by the Wellcome Trust’s Health Innovation Challenge Fund.

Prof Jim Bonham, director of newborn screening at the children’s hospital, said: “Next generation sequencing can build upon the success story of newborn screening to save lives and improve the outcome for children with rare disorders.

“The grant will enable researchers to look at how we can make next generation sequencing even faster, and reduce weeks to days.

“It will also allow us to broaden the range of samples we can use making it possible to use this sequencing technology to support other areas of medicine.

“Most importantly we will look at how we can use the genetic information we generate to give more accurate prognostic information to patients and their families, initially for the newborn screening programmes, but potentially for many other areas of medicine.”

The machine which it is planned will be used during the project was bought using donations to the Children’s Hospital Charity.

David Vernon Edwards, director of the charity, said: “We are delighted that the equipment has enabled the trust to gain this research grant.

“We are always grateful to our donors for choosing to give to us and this shows that sometimes that gift can carry on giving.”

 

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