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RCPCH 2020: Rare diseases in children – Collaborating and innovating for rapid progress
February 22, 2020 @ 8:00 am - 5:00 pm
RCPCH Conference April 2020
RCPCH – Rare diseases in children: Collaborating and innovating for rapid progress – Symposium
King’s Dock, Port of Liverpool
Kings Dock Street
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.
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