Each year on 28 February, Rare Disease Day raises awareness of the challenges faced by patients with rare and often life-threatening conditions. It's a global event that calls for increased recognition, improved diagnosis and expanded treatment options for people affected by rare disease.
BPSU’s role in rare disease research
Since 1986, the British Paediatric Surveillance Unit (BPSU), on which RCPCH is a partner, has played a vital role in the research and surveillance of rare diseases in children across the UK.
Through our ongoing national surveillance system, we gather critical data on rare and less common conditions that affect children, providing valuable insights to researchers, clinicians, and policymakers.
This data helps guide treatment strategies and shapes public health policies. It also identifies areas where further research is needed. By collaborating closely with healthcare professionals and research institutions, BPSU contributes to a deeper understanding of rare diseases in children. Over the years, we've facilitated research on more than 130 rare conditions, with over 250 BPSU study papers published in peer-reviewed journals.
Together, we can...create a lasting impact on the lives of patients affected by rare diseases
As healthcare professionals, you play an essential role in improving care for those living with these diseases. Together, we can raise awareness, advocate for more research and create a lasting impact on the lives of patients affected by rare diseases. If you are not yet signed up to the BPSU reporting scheme or you are interested in running your own study please visit the BPSU web pages.
Learning opportunities at RCPCH Conference and beyond
This year's RCPCH Conference - 26-28 March in Glasgow - will feature a 'Rare Disease Hub'. This is a dedicated exhibition area and presentation theatre, and a a collaborative effort between RCPCH, BPSU and leading clinicians, charities, and commercial organisations specialising in this field.
Through a series of presentations and educational sessions, we'll look at the latest insights into early diagnosis, emerging treatments and comprehensive care approaches.
BPSU hosts its first presentation, Rare disease and the paediatrician, on Wednesday 26 March at 10:20, followed by a workshop, Understanding rare disease from genomics to surveillance. We'd love to see you there - you can see the rare disease hub programme and book your Conference spot.
We also regularly host free webinars to share research findings from BPSU. We discuss the implications for future policy, evidence-based interventions and public health initiatives. They are a great opportunity to get updated on the latest developments in rare disease research and its impact on your health practice, and you can watch past BPSU webinars on RCPCH Learning.