Breaking the genetic code 

24/02/2016 00:00 
UCLH has started recruiting patients in earnest as part of the pioneering 100,000 Genomes Project to help in the fight against cancer and rare disease.

Unravelling and identifying the complete genetic code of a human being – called genomes - has the potential to revolutionise personalised medicine and transform the way we care for patients.

UCLH is one of six hospital trusts in North London to join forces creating the North Thames Genomics Medicine Centre.  When Brian Paskins’ consultant told him about the groundbreaking project he thought:  “It’s time I put something back”. 

Brian, 78, and two of his family are living with a rare form of familial ataxia – an incurable degenerative brain disease which can lead to poor coordination, impaired balance and slurred speech. Children as young as 10 can develop symptoms.

To help improve care for future generations, Brian has agreed to have his genetic code mapped. In total, UCLH plans to sequence around 3,000 genomes from hundreds of families where a rare genetic disease has been identified, to try to find out the cause.

Retired engineer Brian (pictured above) heard about the project from his UCLH consultant Professor Henry Houlden.

Brian said: “My participation may not directly help improve care or the wider scientific understanding in my lifetime but may help future generations to be diagnosed quicker, to be treated better and more efficiently…. I thought it would be a great initiative to be part of.” 

Delivered by Genomics England, the aim of the project is to sequence up to 100,000 patients or infections in patients by the end of September 2017.

The project’s sponsor - Geoff Bellingan, cancer and surgery medical director, said: “Patients like Brian are crucial in setting up this revolutionary service for the NHS – a blueprint for future personalised medicine. We need clinical staff to help refer more patients with a variety of conditions – the success of the project depends on your support.”

For more information and to check the eligibility criteria  go to 

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