Translational Research in Paediatric Rare Diseases Symposium

Translational Research in Paediatric Rare Diseases Symposium
Wednesday 11th December 2019
The Henry Wellcome Auditorium, 183 Euston Road, Wellcome Collection, London, NW1 2BE
Led by GOSH - bringing together the UK paediatric rare disease community.

A symposium, hosted by Great Ormond Street Hospital's Biomedical Research Centre (GOSH BRC), to bring together the national community of academic/researchers and other stakeholders to share experiences and discuss the unique challenges faced translating research into rare paediatric disorders into patient benefit. A draft programme will be added later this month (September).


1.00pm - 1.30pm Registration

1.30pm – 1.40pm Welcome and opening remarks. Professor Thomas Voit - GOSH BRC Director

1.40pm – 2.10pm Making fragile bones stronger Professor Nick Bishop - VP for Science and Research (RCPCH)

2.10pm – 2.30pm Moving to evidence-based patient advocacy: a new model to tackle reimbursement challenges in rare diseases Emily Reuben - CEO Duchenne UK

2.30pm – 3.00pm Dr Karin Straathof - GOSH BRC Junior Faculty Chair introducing lightning talks from future leaders in the paediatric rare diseases community:

CD19 directed CART cell therapy in children Dr Giovanna Lucchini - Locum Consultant Immunologist (GOSH)

Epilepsy and the immune system - a place for new old drugs? Dr Sukhvir Wright - Wellcome Trust Fellow (Aston)

eIF2B bodies as a diagnostic tool for Leukoencephalopathy with Vanishing White Matter Dr Susan Campbell - Senior Lecturer (Sheffield Hallam)

3.00pm – 3.30pm Tea/Coffee and posters in the Williams Lounge

3.30pm – 4.00pm Of spots and stripes - how research is helping rare skin disease Professor Veronica Kinsler - Professor of Paediatric Dermatology and Dermatogenetics

4.00pm – 4.30pm Innovation in trial design and delivery for rare diseases; childhood cancers as an exemplar Professor Pamela Kearns - Director Cancer Research UK Clinical Trials Unit

4.30pm – 5.00pm Panel Discussion

5.00pm – 5.10pm Closing Remarks. Professor Lucy Wedderburn - GOSH BRC Deputy Director

5.10pm – 7.00pm Drinks and canapes in the Williams Lounge

You can register here -