2017 Summit Programme

Cambridge International Rare Disease Summit 2017

The programme features international guests and local experts covering all the active sectors in rare disease research and advocacy

Monday 23 October 2017

Robinson College, Cambridge UK

08:30 – 09:00 | Registration and Welcome Drinks

Morning Session: The Patient Journey

09:00 – 09:10 | Welcome and Housekeeping

  • Alastair Kent OBE, Chair of CRDN

09:10 – 09:30 | Opening Keynote

  • Dr. Ségolène Aymé, Founder of Orphanet and Medical Geneticist

09:30 – 10:00 | Adopting a Rare Disease – The Haemophilia Connection

  • Neil Dugdale, General Manager UK and Rol, Sobi

10:00 – 10.30 | Alström Syndrome– The Patient Journey

  • Kay Parkinson, CEO of CRDN, CEO of Alström Europe and Founder of Alström UK and Sanjay Patel and Dr Owen Vaughan, ProMetic Pharma SMT Ltd – presenting a personal Alström patient journey and how a chance poster presentation led to collaboration with Prometic to develop a drug for treatment of Alström Syndrome

10:30 – 11:00 | Break and Networking

11:00 – 11:30 | Tay-Sachs and Sandhoff Disease – The Patient Journey

  • Daniel Lewi, CEO of The CATs Foundation – sharing his personal family journey and new research into a potential treatment for Tay-Sachs and Sandhoff disease being undertaken at the University of Cambridge and Addenbrooke’s Hospital in collaboration with Professor Tim Cox

11:30 – 12:10| CRDN Competition – Patient/Patient Group 5 Minute Lightning Patient Journey Poster Presentations highlighting symptoms requiring treatment

  • Speakers to be nominated from patient journey poster entries – tbc

12:10 – 12:30 | Responding to the morning session – Audience questions and discussions

  • Using Glisser audience participation technology

12:30 – 14:00 | Lunch and Networking

  • Rare Disease Patient Group Poster Gallery – Adopt a Disease
  • Patient Group and Business Exhibition Stands
  • Networking opportunities

Afternoon Session: Innovations and Re-imagining the Patient Journey

14:00 – 14:30 | Drug Re-purposing

  • Dr Rick Thompson, Findacure – Findacure’s drug repurposing programme aims to provide a new, non-profit route for patient group or clinician-led clinical trials of repurposed drugs to be financed.

14:30 – 15:00 | Early Diagnosis – Mendelian , The Rare Disease Search Engine

  • Dr. Ignacio Hernández Medrano, clinical neurologist at the Ramon y Cajal Hospital, Madrid and co-founder and medical director of Mendelian. A demonstration of a rare disease search engine giving highly accurate search results to support doctors to find the most likely potential diseases and causative genes

15:00 – 15:30 | Gene Therapy and CRISPR

  • Prof Bobby Gaspar – Professor of Paediatrics and Immunology at UCL Great Ormond Street, Institute of Child Health and Honorary Consultant Paediatric Immunologist at Great Ormond Street Hospital for Children NHS Foundation Trust.

15:30 – 16:00 | Break and Networking

16:00 – 16:25 | Treat NMD

  • Prof Kate Bushby, Professor of Neuromuscular Genetics, Newcastle University John Walton Centre for Muscular Dystrophy Research

16:25 – 16:50 | Empowering the Impatient Patient Revolution

  • Dr Ana Mingorance, Dracaena Consulting – author of eBook #ImpatientRevolution exploring the many ways patient organisations can shape the research field around their disease and influence the drug industry to work on their rare disease.

16:50 – 17:30 | Closing Q&A Session and Closing Remarks

  • Led by Alastair Kent OBE, Chair of CRDN – an opportunity for delegates to engage further with speakers and lead discussion

17:30 – 19:00 | Networking Reception

Complimentary drinks and canapes in the Dinning Hall