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Clinicians from across the Division are encouraged to participate in the NHS 100,000 Genomes Project, for which almost 1,000 OUH patients and families have already taken part. Read on to find out how your peers have been involved, and how you can take part too.

More than 950 patients and their families have taken part in a pioneering national project at Oxford University Hospitals NHS Foundation Trust to analyse and learn from the DNA of some cancer and rare diseases patients.

Patients and their families have contributed blood and tissue samples and information about their condition for the 100,000 Genomes Project, launched at OUH hospitals last year.

The samples are put through whole genome sequencing, where a complete set of a person's genes is analysed, to look for genetic mutations.

It is hoped this will allow clinicians to not only provide better diagnosis and treatment for those who give samples but deepen their understanding of disease by comparing results from different people.

The national project - the largest of its kind in the world - was launched by the Government in 2012.

Consultants are asking patients and their families if they wish to take part and patients can also ask their consultant about getting involved.

The project is for more than 190 rare diseases and breast, bowel, ovarian, prostate, lung, renal, endometrial and sarcoma cancers. Family samples are studied to understand how genes are inherited. 

Nuffield Department of Clinical Neurosciences BRC Senior Research Fellow Dr Arjune Sen said he hoped the project will help understand the causes of some epilepsy cases.

Dr Sen, a John Radcliffe Hospital consultant neurologist, said: “It is possible that a significant number of patients have an underlying change in their genes that contributes to the development of their seizures.

“This may be a ‘de novo’ change, namely that it affects only the individual with epilepsy and does not ‘run through’ the family as a whole.

“The best way to find such genes is through large studies such as the 100,000 Genomes Project. Identifying new genes that are important in epilepsy may lead to novel treatments in due course.”

The Trust plans to identify a further 1,370 participants by March next year. 


Oxford is one of 13 Genomic Medicine Centres delivering the project in England from 2015 to 2018. For more information visit

Recruitment is open to almost all areas of clinical practice.  If you are you a clinician at OUH and would like further information please contact Mark Middleton (cancer) via  or Ed Blair (Rare Diseases) via