Theme Lead: Professor Lucy Wedderburn
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:
- 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/genomic/novel analyses to discover treatment pathways, druggable targets , or uncover mechanisms that reveal potential treatments for rare disease patients as well as benefiting those with more common conditions.
- Use innovative data integration or analyses to propose new mechanisms or treatments for paediatric rare diseases.
- Enhance & develop RD cohort research to accelerate the discovery of mechanisms and new treatments for RDs.
- Use nationally representative administrative data or cohort data to determine long term health, educational or wellbeing outcomes of rare diseases that start in childhood