BPSU - Rare Disease Conference 2017: From bench to bedside - new treatments for children with rare disease

On 27 February 2017 the British Paediatric Surveillance Unit, in collaboration with Birmingham Children's Hospital, held its second Rare Disease Conference. Nearly 200 delegates attended the meeting to hear presentations from a range of world-leading clinicians, scientists, policy-makers and patient groups.

The conference explored the theme, ‘From bench to bedside: New treatments for children with rare disease’. It focused on the development of new treatments in paediatrics, from inception to delivery.

Download full programme (PDF, 196KB)

Download programme booklet (PDF, 1.5MB)

View photographs from the event

Watch the presentations

Presentations were received from a range of world-leading clinicians, scientists, policy-makers and patient groups. See below playlist of selected presentations.

Watch, listen to or see slides from individual presentations

Click on the thumbnail images to view the presentation. Where available, you can download a PDF of the presentation slides.

1. Leading the way in the delivery of paediatric care for those with a rare disease, Sarah-Jane Marsh, Chief Executive Officer, Birmingham Children’s Hospital NHS Foundation Trust


2. Integrating research into everyday care - Birmingham Children’s Hospital experience, Dr Larissa Kerecuk, Rare Disease Lead, Birmingham Children’s Hospital NHS Foundation Trust


3. A history of medical invention, Alastair Kent OBE, Director, Genetic Alliance UK


View A Kent's presentation slides (PDF, 203KB)

4. Designing a clinical trial in a slowly progressive rare disease - practical issues, Professor Timothy Barrett, Professor of Paediatrics, Birmingham Health Partners


5. Key note speaker, Implementation of the UK Strategy for Rare Diseases, Ben Howlett MP, Chair of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions


6. The future of drug repurposing, Dr Rick Thompson, Head of Research, Findacure


View Dr R Thompson's presentation slides (PDF, 2.8MB)

7. Gene therapy for bone marrow disorders - the development of new genetic medicines, Professor Bobby Gaspar, Professor of Paediatrics and Immunology, Great Ormond Street Hospital


8. Keynote speaker, Professor Gina Radford, Deputy Chief Medical Officer for England & Rare Disease Champion

9. Harnessing research to deliver innovative treatments, Professor David Adams, Birmingham Health Partners
10. The neuronal ceroid lipofuscinoses or Batten disease, Professor Sara Mole, Professor of Molecular Cell Biology, University College London
11. Translational research in action: life-changing treatment for a rare kidney disease, Dr Sally Johnson, Consultant Paediatric Nephrologist, Great North Children’s Hospital and Paediatric Lead, National aHUS Service
12. Therapeutic opportunities in lysosomal diseases, Professor Timothy Cox, Consultant Physician, University of Cambridge

13. The renal ciliopathies - personalised medicine approaches and new treatments for CEP290 mutations, Professor John Sayer, Clinical Professor of Renal Medicine, University of Newcastle

Audio file to follow

14. The challenges associated with evaluating drugs for rare diseases in a changing environment, Sheela Upadhyaya, Associate Director, Highly Specialised Technology Program - NICE
15. Improving outcomes in rare diseases - the BPSU study on biliary atresia, Professor Deirdre Kelly, Professor of Paediatric Hepatology, Birmingham Children’s Hospital NHS Foundation Trust
16. The challenge of funding rare disease research, Louise McCathie, Director of Fundraising, Birmingham Children’s Hospital NHS Foundation Trust

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