The 100,000 Genomes Project

The 100,000 Genomes Project is a flagship study that aims to sequence the genomes (the entire set of DNA in an individual) of 100,000 individuals in the UK. Only those with a rare disease or cancer are eligible for participation, since it is these conditions which have the most potential to benefit from this type of genomic study.

Although sepsis is a common condition, it can be considered a rare disease in some individuals who develop particularly severe sepsis despite having no risk factors (i.e. are young and previously fit). We have recruited a small number of such patients, under the age of 50, who had been admitted to an intensive care unit with severe sepsis caused by community acquired pneumonia. In such individuals, it is possible that a rare genetic abnormality contributed to the development of sepsis.

Recruitment has now ended and we are now in the sequencing and data analysis stages for this project.