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13 January 2016

100k genome project gives Jessica diagnosis for her epilepsy

Four-year-old Jessica Wright, who has epilepsy, has become one of the first children with a rare mystery illness to have been diagnosed through the 100,000 Genome Project.

Scientists used groundbreaking DNA sequencing to scour through little Jessica's genetic code and found that she had a rare gene mutation that was causing her to have seizures.

Sequencing revealed that Jessica has Glut1 deficiency syndrome which means that her brain cannot get enough energy through a normal diet. However, by changing to a special diet that switches the body's fuel source from glucose to ketone bodies, it is hoped that Jessica's brain will be able to access the right amount of energy and her seizures will be brought under control.

Taking control

Her mum, Kate Palmer said the diagnosis had already made a difference to Jessica.

She said she hoped the four-year-old's epilepsy and other symptoms could now be controlled through the special diet.

'More than anything the outcome of the project has taken the uncertainty out of life for us and the worry of not knowing what was wrong. It has allowed us to feel like we can take control of things and make positive changes for Jessica,' she said.

Director of genomics at Epilepsy Society Professor Sanjay Sisodiya welcomed the results from the Genomics England project.

'Genetics can often tell us more about epilepsy in a single test than any other single source. Whole genome sequencing is a new genetic research technique that reads all three billion letters in the genetic code, identifying many of the range of genetic causes of epilepsy.

'As in the case of Jessica, this can enable more accurate diagnosis and personalised treatment for people living with epilepsy.'

Ketogenic diet

Professor Sisodiya is leading on research at Epilepsy Society into why some people with epilepsy respond to the ketogenic diet - a diet based on ketone bodies - while others don't.

Studies have shown that people with Glut1 deficiency syndrome, which is  caused by a mutation in the gene SLC2A1, tend to have a more favourable response to the ketogenic diet.

However,  this gene may not be the only explanation for this positive response.

Working with researchers in the UK, Netherlands and Australia, he has shown that there may be other genetic factors that may predict who is likely to benefit from the ketogenic diet.

Jessica is one of around 75,000 people being recruited to the Genomics England project who will have their genetic codes, or genomes, sequenced by scientists.

Some will have more than one version of their genome sequenced, making up the 100,000 total by 2017.

The first adults were diagnosed early last year.

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