Rare diseases cohorts

Theme Lead: Professor Lucy Wedderburn

Deputy Theme Leads: Professor Ruth Gilbert and Professor Darren Hargrave

Contact: Dauda Bappa 

The NIHR GOSH BRC Rare Diseases (RD) theme recognises the unique nature of our patient population and aims to carefully define cohorts of rare disease patients to better inform novel diagnostics and therapeutic interventions. The theme brings together our research on rare diseases, ensuring future trial readiness, sharing successful approaches, and linking cohorts/investigators to available technologies and platforms.

In the next five years, exciting new opportunities will enhance our capacity to deliver translational benefit such as the Zayed Centre for Research into Rare Disease in Children and the development of the Electronic Patient Record (EPR) system at GOSH. We aim to extend cohort research across the BRC over a wide range of rare diseases, maximising research discovery and amplifying the health and wealth benefit of cohort research.

In this theme we aim to:

  • enhance and develop RD cohort research to accelerate the discovery of mechanisms and new treatments for RDs
  • fast-track progress for rare diseases with unmet clinical needs by using best practice examples from experienced investigators and established data and sample collection and analysis tools 
  • use genetic analysis to discover druggable targets and uncover mechanisms that reveal potential treatments for patients with rare and common conditions.
  • deliver significant economic benefit by developing innovative treatments that reduce the need for lifelong care