UCL200 / BPSU40: Symposium on Childhood Rare Disease
About this Event
Join us for a joint celebration of the collaboration and impact that UCL’s Great Ormond Street Institute of Child Health and the British Paediatric Surveillance Unit (BPSU) have had on outcomes for children and families affected by rare diseases in the UK and beyond.
UCL200 / BPSU40: Symposium on Childhood Rare Disease
Tuesday 22 September 2026; 10:00am-5:00pm
Programme (to be finalised)
10:00-10:30: Registration
10:30: Session 1: Welcome and international keynote address
10:30: Welcome
Professor Helen Cross, Director, UCL Great Ormond Street Institute of Child Health
10:40: Keynote address
Population surveillance and rare disease research - the Australian experience
Distinguished Professor Elizabeth Elliott, University of Sydney and Children’s Hospital Westmead, Australia / Australian Paediatric Surveillance Unit
11:30-11:45: Coffee Break
Session 2: Perspectives on Childhood Rare Disease
11:45: Introduction to session (Chair)
11:50: Title tbc Joe Rumney and Emma Bishop, RARE Revolution
12:10: Title tbc Great Ormond Street Hospital
12:25: Gene therapy for rare immunodeficiencies
Professor Claire Booth, Zayed Centre for Research into Rare Diseases in Children
12:40: Role of industry in paediatric rare disease
Professor Alan Boyd MBE, Boyd Consulting
12:55-14:00: Lunch
Session 3: Celebrating 40 years of partnership with the British Paediatric Surveillance Unit
14:00: Introduction to session
Dr Peter Davis, Chair, British Paediatric Surveillance Unit (BPSU)
14:10: A new approach to rare disease surveillance: HIV and the BPSU
Professor Claire Thorne, UCL Great Ormond Street Institute of Child Health
14:25: BPSU impacts on practice and policy: evidence from research
Professor Alastair Sutcliffe, UCL Great Ormond Street Institute of Child Health
14:40: International responses to emerging diseases: Zika and microcephaly
Dr Rachel Knowles, UCL Great Ormond Street Institute of Child Health
14:55: Data linkage for long-term outcomes: Childhood Blindness
Professor Jugnoo Rahi, UCL Great Ormond Street Institute of Child Health
14:55-15:30: Coffee Break
Session 4: Looking to the future - newborn screening for rare disease
15:30: Introduction to session (Chair)
15:35: Generation Study: Newborn whole genome sequencing
Dr David Bick, Principal Clinician ‑ Newborn Genomes Programme, Genomics England
15:50: Evaluating new screening programmes for rare conditions
Professor Anne Mackie, UK National Screening Committee
16:05: Supporting families affected by rare disease
Nick Meade, Chief Executive, Genetic Alliance
16:20: Panel Discussion
David Bick, Anne Mackie, Nick Meade, David Elliman, Jugnoo Rahi, Melissa Hill
16:50: Close
Where is it happening?
Event Location & Nearby Stays:
GBP 0.00
