First patients diagnosed through the 100,000 Genomes Project

Genomics England has reported today that two families are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt will today meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.

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Newcastle University and Hospitals worked with Genomics England to analyse the genomes and validate the findings as part of the project’s pilot scheme. Read the full article on the Genomics England website here.

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