Rare Diseases

Britain leading the way in the fight against rare diseases with cutting edge gene machine

Sequencing the human genome now takes just three days

Reading the first-ever complete genetic blueprint for a human took 13 years of painstaking research. It was a scientific breakthrough on a par with splitting the atom and putting a man on the Moon .

Today, nearly 15 years on, cutting edge technology means sequencing the three billion letters of DNA that make up a human genome takes just three days.

And inside laboratories at the sprawling Wellcome Genome Campus near Cambridge, rows of sequencing machines are churning out new readings every 35 minutes.

It is one of the hottest areas of science and offers a ray of hope for thousands of people with undiagnosed rare conditions.

By providing a better understanding of what causes cancers , genome sequencing is also expected to radicalise treatments for the disease.

And thanks to the NHS ’s 100,000 Genomes Project, Britain is leading the way. By the end of 2018, the project will have sequenced 100,000 genomes from 70,000 NHS patients.

It is the largest national sequencing project of its kind in the world and is the envy of scientists across the globe.

It is so successful that from April all NHS patients who could potentially benefit from sequencing will have access to the service. Patients with rare diseases may be offered a diagnosis where there wasn’t one before.

And there is…