New resource to help rare disease researchers

Approximately 3.5 million people have a rare disease in the UK; however, many people do not know the name or cause of their condition, except that it is categorised as a rare disease. One team in Cambridge is providing the tools for researchers to help people find new diagnoses or treatments for rare disease patients.

The National Institute for Health Research (NIHR) BioResource is a resource of volunteers with or without a health condition who give their consent to be recalled to take part in research studies. In England there are 13 NIHR BioResource centres based within hospitals which research different health themes.

One theme the NIHR BioResource focuses on is rare diseases. “A rare disease is a genetic disorder which people can live with for years without understanding their condition or the cause.

Dr Kathy Stirrups

They can see multiple clinicians in different specialties, undergo numerous tests just to find out what the disease is; all of this can take time and be really frustrating for people,” says Dr Kathy Stirrups Head of Sample Management Team for the NIHR BioResource, based in Cambridge.

“Our aim is to provide a resource for researchers to assist with their clinical investigations which can ultimately provide patients with a diagnosis and new treatments.

“We recruited over 13,000 people who have a rare disease including their relatives to join the NIHR BioResource then we sequenced their whole genome.

“A genome is 3.2 billion letters of a person’s DNA and contains around 20,000 genes. We sequenced each participant and for a few we were able to find a diagnosis or discover new genes that were the cause of their rare disease.

“It used to take at least a year to sequence and analyse someone’s whole genome, however, as technology improves this kind of testing is speeding up. It’s a fantastic resource as we are able to find where the anomaly is in a person’s genetic code. With this large data set we can collaborate with researchers to further rare disease research.”

Helping researchers

Finding the right group of patients who are suitable for a research study can take several years, but finding participants with a rare disease can be particularly difficult. 

Thought to be the largest rare disease resource of its kind, the NIHR BioResource is giving rare disease researchers the opportunity to use the data collection for their own clinical research.

“The NIHR BioResource allows people to sign up and be recalled to take part in a research study. For the rare disease participants we also have their genome and a detailed clinical description. Having this wealth of data from a large cohort of rare disease patients readily available is unique. We can now provide a valuable resource for researchers and help them with their rare disease discoveries” explains Kathy.

“All data provided by the participants is anonymised and researchers have to complete a rigorous application and meet strict security procedures before accessing the genetic data. When they have been approved, they can view the information and apply it to their research, and this will hopefully accelerate finding new treatments for people with rare diseases.”

Already the NIHR BioResource rare disease resource has been used for research studies leading to several publications on new causative genes or research methodologies. The team hope more researchers will be able to apply it to their research. InOctober 2018, Kathy presented this new resource at the American Society of Human Genetics conference in the hope more researchers will come forward to collaborate with the NIHR BioResource.

Kathy added: “We want to help researchers find new diagnoses and treatments to eventually give patients the answers they so desperately need for their conditions.”

Find out more

If you would like to find out further information about the NIHR BioResource, please click the link below, to find the person to direct your enquiries to.