Cambridge Rare Disease Summit Programme: 23 Oct 2017

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 – New technologies of Information and Communication (NTIC) in research and medical practices: advances and drawbacks for the patient journey

  • Dr. Ségolène Aymé,  Emeritus Director of Research at the French Institute of Health and Medical Research (INSERM). Expert in residence for rare diseases at the Brain and Spine Institute in Paris, and Founder and Editor-in- Chief, Orphanet Journal of Rare Diseases

09:30 – 10:00 | Listening to Patient Communities – The Sobi Experience

  • Neil Dugdale, General Manager UK and Rol, Sobi. Listening to Patient Communities – the Sobi experience of listening to rare disease communities living with HT-1 and Haemophilia

10:00 – 10.30 | A Personal Journey with an Ultra Rare Disease

  • Kay Parkinson, CEO of CRDN, CEO of Alström Europe and Founder of Alström UK 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 – 12.30| An Overview of Rare Disease –  Student, trainee and early stage healthcare professionals breakout session (max 40 registered in advance)

  • Rebecca Nunn, Trainee doctor, University of Cambridge – A medic’s Rare Disease patient journey
  • Mabella Farrer, Genetic Counsellor, Addenbrookes – The utility of the diagnosis
  • Dr Simon Holden,  Consultant Clinical Geneticist, Addenbrookes, Cambridge University Hospitals Trust – Red Flags for Rare Disease
  • Dr Gemma ChandratillakeEducation & Training Lead, East of England Genomic Medicine Centre – 100,000 Genomes Project

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| Patient Journey Lightning Poster Presentations – Chaired by Findacure

  • Bardet -Biedl Syndrome UK – Tonia Hymers
  • Pitt Hopkins UK – Sue Routledge
  • The Teddington Trust – Nicola Miller
  • Vasculitis UK – Lynn Laidlaw and Suzanne Morris
  • Wyburn-Mason Syndrome/Acromegaly – Dan Jeffries

12:10 – 12:30 | Panel 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
  • Registration for No Isolation AV1 Avatar workshop in the afternoon

Afternoon Session: Innovations and Re-imagining the Patient Journey

14:00 – 14:30 | No Isolation AV1 Avatar Workshop – breakout session (register at NI exhibition stand at lunchtime)

  • Steffen Mio Kristiansen, General Manager, UK,  No Isolation –  a workshop to showcase this Norwegian tech company’s robot aimed at reducing isolation and enabling participation in education and social activities for children with chronic, lifelong conditions

14:00 – 14:30 | Drug Re-purposing

  • Dr Rick Thompson, CEO, 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 for Monogenic Bone Marrow Disorders

  • 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 – 15:45 | Comfort Break

15:45 – 16:10 | The Powerful and Evolving Role of Patient Advocacy Groups in Orphan Drug Development

  • Juliet Moritz, MPH – Executive Director of Patient Engagement and Strategic Development at Premier Research, US

16:10 – 16:35 | 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

16:35 – 17:00 | Rare Disease Nurse Network

  • Natalie Rebeyev,  Cambridge Consulting Network lead for CRDN led Rare Disease Nurse Network. PhD Student and Gates Cambridge Scholar, University of Cambridge, Department of Medicine
  • Saakshi Chadha, Consultant at Cambridge Consulting Network, PhD in Medical Sciences at MRC- Cancer Unit. University of Cambridge. 

17:00 – 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 Dining Hall