Rare disease cohorts - our impact

The rare disease cohort research cross-cutting theme at the NIHR GOSH BRC recognises the unique nature of our patient population and aims to carefully define cohorts of patients to maximise health informatics data and sample collection, and better inform novel diagnostics and therapeutic interventions.

To ensure true impact of our theme, we will cross-fertilise collaborations, drawing in patients and researchers from across specialities and engage patient charities and industry as partners. With the 'Novel therapies and their translation into childhood diseases' theme, we encourage applications to linked calls and coordinate active interactions with NIHR initiatives such as the NIHR Biosample Centre.

Our aim is to we create a well-trained, forward-thinking cadre of investigators that can lead rare disease paediatric cohort research now, and into the future.

We will continue to involve patients and families throughout the theme and will provide information and support to families - ensuring that patients’ priorities and needs are made integral to our strategy.

We have now collated and expanded our cohort catalogue, defining common needs and requirements, and generated a toolkit of best-practice exemplar solutions and we have awarded Pump Prime grants to help enhance and develop cohort research to accelerate the discovery of mechanisms and new treatments.