Rare Disease Day Lecture and Networking Event – 28 Feb 2017

Rare Disease Day Cambridge Lecture and Networking Event
Tues 28 February 2017 from 6pm to 9pm
at Cambridge Judge Business School

FREE event. Register for tickets here


Jointly hosted by

Cambridge Rare Disease Network

NIHR Rare Diseases Translational Research Collaboration

The evening highlights Rare Disease Day and Rare Disease Research

Are you interested in Rare Disease research?

If the answer is yes then this evening lecture and networking opportunity will be of interest to you.

It will Include:

  • Updates about rare disease research
  • Hearing from speakers directly affected by rare disease
  • An opportunity to talk with researchers and professionals
  • To connect with other patients and carers
  • Drinks and nibbles after the speakers

With representatives from Rare Disease Community, Patients, charities and researchers the evening offers fantastic opportunities for networking and information sharing.

About Rare Disease Day

2017 marks the 10th year that the internationally rare disease community will celebrate Rare Disease Day.

On 28 February 2017, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.


What are my transport/parking options for getting to and from the event?

Cambridge Judge Business School (the old Addenbrookes) is located directly opposite the Fitzwilliam Museum on Trumpington Street. There is metered parking along Trumpington Street, or you may prefer to park at the Grand Arcade shopping centre’s car park, which is just five minutes’ walk from the School.

Cambridge Judge Business School is a ten-minute taxi ride from the rail station and taxis can be found outside the station entrance. Cambridge city centre bus station on Drummer Street, is less than 10 minutes’ walk from the School. Bicycle racks can be found at the front of the school.

Where can I contact the organiser with any questions?

Please contact Georgina Norris via email: gan23@medschl.cam.ac.uk alternatively Tel: 01223 254608

Alongside speakers listed below we’ll hear from the newly formed Cambridge Students4RareDiseases Group and Katy Baker, a University student living with  a rare condition called Scimitar Syndrome.

  • Professor Patrick Chinnery

    Professor Patrick Chinnery

    Co-Chair for NIHR Rare Diseases Translational Research Collaboration. Clinical Neurologist & Wellcome Trust Senior Fellow

  • Karen Harrison

    Karen Harrison

    Endocrine Project Manager for ALD LIFE. Karen is a carrier of ALD and parent to two affected sons, one who died aged 8.

  • Professor Stephen Jackson

    Professor Stephen Jackson

    Cambridge University Professor of Biology. Head of Cancer Research UK Laboratories at Gurdon Institute

  • Dr Nick Sireau

    Dr Nick Sireau

    CEO of AKU Society, has two sons affected by Black Bone Disease. Chairman of Findacure & member of Eurordis board of Directors

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.

Continue Reading

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