Rare disease nursing in Cambridge: a debate

With 1 in 17 Britons born with or developing a rare disease, and with medical advances offering exciting new treatments to extend the lives of rare disease patients, we need innovative new options in holistic, patient-centred healthcare – such as rare disease specialist nurses.

Current care options for rare diseases put the burden on the patient to navigate multiple specialists, cover expensive travel and potentially spend long spells in hospital. This results in missed diagnoses, missed opportunities for treatment and leads to higher healthcare costs for patients and healthcare networks.

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Collective intelligence at the Cambridge Rare Disease Network

Developing and using our collective intelligence – using digital and social technologies to support and enhance the work of thinking beyond the capabilities of any individual person- will be vital as we take on the key challenges of coming years; our climate, managing our resources, health, ageing population.

Lydia Nicholas of Nesta blogged about the 2015 Cambridge Rare Disease Summit, sharing some examples of collective intelligence ‘in the wild’.

Read her post on the Nesta website.

CRDN Summit 2015

Cambridge Rare Disease Network is holding its first annual conference, the Cambridge Rare Disease Summit 2015, at the Cambridge Judge Business School. We’re bringing together 150 key stakeholders to debate how to best address the huge social and therapeutic unmet needs around rare diseases.

Come and join us and add your thoughts, ideas and questions to the day. Themes include:

  • Alternative Funding Strategies
  • New Rare Disease Initiatives on the Horizon
  • the Potential of the Cambridge Cluster
  • Engaging with Pharma.

We have an exciting line-up of speakers who are leaders in their fields:

  • Video message from Prof Stephen Hawking, Centre for Theoretical Cosmology, University of Cambridge
  • Prof Sir Gregory Winter, Master of Trinity College and Co-Founder of Cambridge Antibody Technology
  • Associate Prof Matt Might, Parent Entrepreneur and Founder at NGLY1.org
  • Prof Steve Jackson, Head of CRUK at Gurdon Institute
  • Dr Nick Sireau, Founder of Findacure and AKU Society
  • Mr Alastair Kent, OBE, Director Genetic Alliance UK and Founder of Rare Disease UK
  • Ms Kay Parkinson, Founder of Alstrom Syndrom UK/EU
  • Dr Hermann Hauser, Founder of ARM and Amadeus Capital
  • Dr Bruce Bloom, President of Cures Within Reach
  • Prof Alan Barrell, Judge Business School
  • Dr Jonathan Milner, Founder of Abcam
  • Dr Darrin Disley, Chief Executive, Horizon Discovery
  • Dr Anne Dobree, Head of Seed Fund, Cambridge Enterprise

Following the summit we will be hosting a drinks reception to which you are warmly invited. We invite you to then attend our gala dinner at St.Catherine’s College, Trumpington Street to close the evening.

Rare disease diagnostics: bringing genomics to the clinic

Genomic medicine is changing our world. The rapid decrease of the price of DNA sequencing has opened up numerous new possibilities, and is starting to enter clinical practice.

However, even though we understand the genetic causes of 50% of rare diseases, early diagnostics remains a challenge. In the UK, it still takes an average of 6 years and visits to 8 doctors to get a diagnosis, and many people never get an answer at all.

By scanning through entire genomes at once, DNA sequencing has the potential to change this. Come discuss the opportunities and the challenges of this new technology in a clinical setting, with some of the experts in the field.


  • Dr Caroline Wright, Project Manager, DDD project
  • Dr Gemma Chandratillake, Genetic Counsellor and Product Manager, Personalis
  • Dr Fiona Nielsen, Founder of DNAdigest
  • Dr Sobia Raza, Science Programme Lead, PHG Foundation

Invited organisations:

  • Genomics England
  • DDD project
  • PHG Foundation
  • DNAdigest


17.30: Doors open
18.00: Lecture/panel discussion and Q&As (10-15 min per speaker)
19.30: Wine reception
21.00: End of event

Parent entrepreneurship: when parents start companies to cure their child

The launch of the Cambridge Rare Disease Network is a discussion on parent entrepreneurship: when parents start companies to cure their child.

Confirmed speakers are:

  • Mr Alastair Kent OBE, Director of Genetic Alliance UK;
  • Dr Nick Sireau, Founder of AKU Society and Findacure;
  • Ms Kay Parkinson, Founder of ASUK Society;
  • Dr Will Evans, Trustee of Niemann-Pick Disease Group;
  • Dr Cesare Spadoni, Founder of aPODD Foundation.

The event is kindly supported by Genetic Disorders UK, Findacure, Utah Rare, Cambridge Judge Business School, Innovation Forum, One Nucleus, Global Biotech Revolution and Stevenage Bioscience Catalyst.

17.00: Welcome networking
17.30: Lecture & panel discussion and Q&A’s.
19:00: Networking and drinks reception
20:00: End