Gene machine helps diagnose rare liver disease

A toddler with a rare disorder is the first patient to benefit from a new ‘gene machine’ system in Sheffield, which provides a faster diagnosis for rare and inherited diseases.

Jae Machin, aged two, was diagnosed with a Glycogen Storage Disease (GSD) after his blood was tested using the new next generation sequencers at Sheffield Children’s Hospital.

GSD is a serious, but treatable metabolic disorder that can be caused by gene mutations that affect different tissues: the liver, muscles or the heart.

The new technology allows experts to screen up to 100 genes at once for mutations that may cause the disease, instead of one at a time. It means that tests can be returned in a matter of weeks instead of the previous system which could take up to a year.

Mum Jennifer Machin, aged 36, said: “Having the diagnosis has already made a difference to Jae and to our family life and it is great that many other families will benefit from having access to this technology.”

Identifying Jae’s disease

Jae’s health issue was flagged up at Doncaster Royal Infirmary. Specialist Registrar Dr Charles Amobi, assessed Jae in a review clinic and noted his swollen abdomen and liver. Dr Amobi thought the youngster could have Glycogen Storage Disease, so referred Jae for further investigations to the metabolics team at Sheffield Children’s Hospital.

Jae was screened and diagnosed with GDS type IXa. He is being treated by changes to his diet, including regular feeds of corn flour to stabilise his blood sugar levels. By his teens, it is hoped that Jae will have grown out of the condition.

Mrs Machin, from Conisborough, South Yorkshire, said: “Identifying the gene that caused the problem is making a difference, as we can make changes to Jae’s diet and can now manage the condition effectively. It will also make it much easier when it comes to testing other members of the family.”

Faster diagnosis and earlier treatment

The next generation sequencers at Sheffield Children’s Hospital are two of around 15 at NHS trusts.

They have been funded by The Children’s Hospital Charity thanks to the generosity of the charity’s supporters.

Dr Sufin Yap, the Consultant in Metabolic Medicine at Sheffield Children’s Hospital who diagnosed Jae, said: “Before the gene sequencer arrived finding the correct gene was like looking for a needle in a haystack.

“Under the old system it would have taken at least six months to find the gene, whereas with the new system it took just two months. This means our patient will receive definitive treatment faster than before.”

Darren Grafham, Head of Laboratory Services for Genetics at Sheffield Children’s NHS Foundation Trust, who has been working on the first phase of testing for patients suspected of having GSD, said: “We are very excited to have this technology in our lab now and to begin to apply this in a clinical setting.”

“The patients who will benefit are those with conditions where they have symptoms but it is unclear what the cause might be.”

Previously, to test for a genetic condition a blood sample would be taken from the patient and processed by the Sanger Sequencing equipment, testing one gene at a time depending on which one was suspected of being faulty by the patient’s consultant.

The new gene sequencers will eventually be used to test for a wide spectrum of diseases including connective tissue disorders and inherited diseases. This will be developed with health professionals over the coming months.

The Trust will also be collaborating with other organisations like the universities to discuss how the facility can help them in their work. It can help researchers understand more about many areas of biology, for example diseases in animals and plants.

Funding from local organisations

Funded by The Children’s Hospital Charity following a £500,000 donation, the new technology is based in the laboratories at Sheffield Children’s Hospital and can test DNA from any living organism.

Sheffield based Westfield Health contributed £50,000 towards The Children’s Hospital Charity’s fundraising for the equipment.

David Vernon Edwards, Director of The Children’s Hospital Charity, said: “This state of the art equipment has the potential to make such a massive difference to the lives of the hospital’s young patients and their families – we’re so proud to be a part of such a fantastic project and we’re so grateful to our supporters for their incredibly generous contributions.”

Graham Moore, Chairman of Westfield Health, said: “We are so lucky to have such a wonderful Children’s Hospital in Sheffield and I am sure the new equipment will make a huge difference to patients’ lives.”

Yorkshire Cancer Research has also committed considerable funding to upgrade the facility once new technology becomes available, so that cancer genomes can be characterised in fine detail.

Kathryn Scott, Head of Research Funding at Yorkshire Cancer Research, said: “The charity is delighted to be involved in this initiative and has worked with both the University of Sheffield and Sheffield Children’s Hospital to ensure this facility is supported into the future.

“This technology moves incredibly quickly and it is essential to ensure the facility is future-proofed so it continues to deliver maximum patient benefit and research capability.”

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