Faster diagnosis from ‘transformational’ gene project

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Scientists in Cambridge have completed the world’s largest gene sequencing project in healthcare – which brings hope of better understanding of diseases and faster diagnosis.

People with rare diseases, their family members and cancer patients took part.

Genomics England described the project as “transformational in what it means to society and humanity”.

One in four participants with rare diseases received a diagnosis for the first time.

Until now, parents of children with rare genetic conditions typically spent years trying to find out the cause.

The 100,000 Genomes Project has ended this “diagnostic odyssey” for many families, and in some cases, led to effective treatments.

‘Difference is amazing’
Hana Young’s daughter Tilly, aged six, who has a disorder which causes delayed development and seizures, had her genome sequenced, along with both her parents.

In January 2018 she was diagnosed with GAMT deficiency, a treatable metabolic disorder, which is caused by an inherited genetic error.

Hana, from Gosport in Hampshire, told the BBC: “She used to be in and out of hospital and was often very aggressive towards her younger brother Arlo and others.

“She lost the ability to walk and was having hundreds of seizures a day.”

Since Tilly has been on treatment, Hana says the “difference is amazing”.

“She is communicating, full of life, her epilepsy is gone and she is no longer violent,” her mum says.

“Tilly is still severely mentally disabled but she is so much better than she would have been without the diagnosis.”

Had Tilly’s illness been identified earlier, some long-term damage could have been prevented.

In all, about 85,000 people had their entire genetic code, or genome, sequenced, but because cancer patients also had their tumour DNA mapped, the number of genomes totalled 100,000.

The human genome is made up of billions of pieces of DNA, found in nearly every cell in the body. It is the instruction manual for life and errors can trigger a vast range of disorders.

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