Give to GOSH: Genetic breakthrough was only possible in Britain, says professor

Diagnosis: Georgia Walburn-Green with parents Amanda and Matt
PA
Anna Davis @_annadavis12 January 2016

A professor behind a revolutionary project to identify “mystery” diseases by sequencing 100,000 human genomes said Britain was the only place in the world such a massive scheme could happen.

Two children, both patients at Great Ormond Street Hospital, were today revealed as the first to receive a genetic diagnosis after taking part in the pilot project.

Professor Lyn Chitty, a clinician at the hospital and clinical lead for the 100,000 Genomes Project, told the Standard that it worked in Britain because of the NHS.

As well as sequencing genomes, researchers analyse the medical records of patients and their parents over their lifetimes. Professor Chitty said this could not be done in countries without a national health service because access to records would be fragmented.

Georgia Walburn-Green, from Newbury, failed to meet developmental milestones and was frequently unwell after her birth in 2011. After testing, her parents were told she had an undiagnosed genetic condition.

When Georgia joined the project, researchers found a mutation in one half of a single gene was the likely cause of her problems. They later found two other children with the same mutation and symptoms.

Although there is currently no gene therapy for Georgia, her parents hope that more will be discovered about how to treat her. They can also now try for another baby, because they did not know before if Georgia had an inherited condition.

Jessica Wright, also four, from Sussex, suffered seizures but doctors couldn’t offer a diagnosis. Researchers found a non-hereditary genetic error that means her brain does not receive enough energy. They devised a special diet that let her cut her medication and gave better control over her seizures.

Georgia’s condition is so new it does not have a name, while Jessica’s is called GLUT1 deficiency syndrome.

Professor Chitty said many more conditions would be found by the project, which she said would revolutionise medicine.

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