Guy's and St Thomas' patients among first to sign up for 100,000 Genome Project


Posted on Wednesday 6 August 2014
Researcher working in his laboratory

Our patients will be among the first to sign up for 100,000 Genome Project

Guy’s and St Thomas’ is delighted to have been chosen as a pilot centre for a flagship Government project that aims to make the UK a world leader in genetic research into cancer and rare diseases.

The 100,000 Genome Project will allow scientists to do pioneering research to decode 100,000 human genomes - a patient’s personal DNA. On Friday 1 August, Prime Minister David Cameron announced £300 million of funding for the project over the next four years.

Sequencing the genome of a person with cancer or someone with a rare disease will help scientists and doctors understand how the disease works. The project has the potential to transform the future of healthcare by helping to develop new and better tests, drugs and treatment.

As one of the pilot centres involved, the clinical genetics department at Guy’s and St Thomas’ will be contacting families and asking them if they would like to participate. The pilot will focus on patients with very specific, rare diseases such as skeletal dysplasias, inherited heart conditions and undiagnosed metabolic conditions.

Professor Frances Flinter, consultant in clinical genetics, says: 'We’re thrilled to have the opportunity to offer whole genome sequencing to patients with rare diseases as part of the pilot.

“Some patients undergo multiple investigations over a period of many years as doctors try to make a diagnosis, but without success. If genetic testing can identify the cause of their condition, it will make a huge difference to them and their families.”

Our NIHR Biomedical Research Centre will be supporting the pilot project by funding weekend clinics for patients involved in the pilot study.

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