How to book for the RCPCH conference

This event takes place on day 2 of RCPCH Conference and exhibition 2020, which takes place from 28 to 30 April. You can book your place at Conference, and join this event.

More about RCPCH Conference and how to register

RCPCH Rare Disease: Session overview

The British Paediatric Surveillance Unit in collaboration with Medics 4 Rare Diseases, Cambridge Rare Disease Network, Findacure and Rare Revolution Magazine present this half-day symposium at the RCPCH annual conference 2020.

This session will focus on rare disease – an area of medicine where innovation is making a real-life difference to the patient population and their families. It is targeted at all medical professionals because, thanks to innovation, rare disease is no longer just the domain of the super-specialist. Attendees will get a broad overview from how rare diseases are relevant to everyday clinical practice to how artificial intelligence is improving the diagnostic pathways.

It will be a chance to engage with patients, advocates and medical professionals who all work tirelessly to improve the outcomes for children living with a rare disease in the UK.

Programme (subject to change)

15:00 The health impact of rare diseases and the BPSU – Dr Shamez Ladhani, BPSU Chair

15:15 Gaucher’s and me: growing up with a rare disease – Maddie Collin, young person diagnosed with Type 3 Gaucher’s

15:30 How advocacy changes clinical practice: the AKU story – Dr Nick Sireau & Professor Lakshminarayan Ranganath, AKU Society

15:50 Lupus: understanding how children with a rare multi-system disease access care – Dr Hanna Lythgoe, Alder Hey Children’s Hospital

16:05 Interim findings of the first national surveillance of Fetal Alcohol Syndrome – Dr Kathryn Johnson, Leeds General Infirmary

16:20 Tea break

16:45 Behçet’s syndrome: delivering a multi-disciplinary service – Dr Clare Pain, Alder Hey Children’s Hospital

17:05 Whole genome sequence analysis in PICU and NICU: a paradigm shift in clinical care – Professor Lucy Raymond, University of Cambridge

17:20 Doctors as rare disease teachers – Dr Lucy McKay, Medics 4 Rare Diseases

17:35 Q & A Richard Lynn, BPSU Scientific Coordinator

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