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DNA sequencer

The Muir Maxwell Trust is well known to Great Ormond Street Children’s Hospital (GOH), Edinburgh’s Royal Hospital for Sick Children (RHSC, Edinburgh) and Yorkhill Children’s Hospital in Glasgow (RHSC, Glasgow) – all recognised centres of excellence for paediatric epilepsy. Since outset, Ann and her colleagues have actively networked with the children’s nurses and consultants who provide the front line of care across the UK. Most of our grant requests on behalf of families and hospitals are submitted by an epilepsy nurse or a consultant.

Fuelled by the lack of equipment and facilities to diagnose severe genetic epilepsy in children, Dr Mary O’Regan and Dr Ailsa McLelland asked the Trust for a DNA sequencer to launch the UK’s first paediatric genetic epilepsy service. The Trust purchased a DNA sequencer machine which has resulted in a leading edge DNA service, pioneered by the combined expertise of the Genetics Department in Yorkhill Children’s Hospital (RHSC, Glasgow) and clinical support by Dr Sameer Zuberi, also based at Yorkhill. The service prioritises genetic testing for epilepsy in children, with DNA samples arising from all over Britain.

In the first instance, the service has been used to diagnose Dravet Syndrome.

To date, nearly 500 DNA samples have been processed. The information arising has resulted in a database, the first of its kind in the world, enabling clinicians to identify effective treatments for certain genetic epilepsy in children. The service is unique and the information arising is being shared with epilepsy centres worldwide.

Prior to this, children’s DNA was sent to either Australia as part of a research-based project or to the USA for a results only service costing $2500. Results could take up to two years and no advice was available regarding the treatment of the genetic epilepsy that might be diagnosed. Now, as soon as genetic epilepsy is suspected, consultants are required to complete a carefully constructed questionnaire and submit the child’s DNA for testing. Early diagnosis can result in effective treatment and prevent children suffering years of brain damaging seizures.

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The Glasgow Epilepsy Genetic Service

"Without the purchase of a dedicated gene sequencer by the Muir Maxwell Trust, the Royal Hospital for Sick Children in Glasgow could not have established the United Kingdom’s only genetic diagnostic service for Dravet Syndrome and other sodium ion channel related epilepsies beginning in infancy. The Trust has also funded the maintenance and upgrade of the sequencer, allowing the service to stay at the cutting edge of modern genetic technology.

The Board of the Trust had the vision to see the benefits that early genetic diagnosis of a child’s epilepsy might bring. In just over two years, the service has tested about 500 DNA samples and detected mutations in the SCN1A gene in 160 individuals. 50% of these diagnoses have been in children under five and 20% in children under two. An early diagnosis can lead to earlier targeted therapy, better seizure control and better outcomes for affected children.

Rachael Birch, the genetic scientist who undertakes the DNA analysis, was awarded the 2007 UK Young Clinical Scientist of the Year for her work in establishing testing. The service was also Highly Commended in the Joint Epilepsy Council Best Health Awards 2007. None of this work, which has benefited hundreds of families with children affected by epilepsy, would have been possible without the support and encouragement of the Muir Maxwell Trust."
Dr Sameer Zuberi, RHSC, Glasgow