NIHR ‘Think Research’ Rare Disease patients Day


Venue: The Light, Friends House, 173-177 Euston Rd, Kings Cross, London NW1 2BJ

Time: 10am to 4.00pm  

Help make our Rare Diseases Patient Day a success!

The day is a joint collaboration between NIHR Cambridge Biomedical Research Centre and NIHR BioResource for Translational Research. The aim of the day is provide insight and training in aspects of Rare Diseases research, as well as information-gathering and networking opportunities.

Who will be speaking and facilitating on the day?

See full programme details Patient Day Agenda

Attendees will select an individual session to attend in the morning and a different session in the afternoon.

Session 1- Social Media

Session 2- Working with Industry

Session 3 – Genomics

Session 4- Data and Research

Jo Balfour from Cambridge Rare Disease Network will be facilitating a lunchtime discussion session exploring how Rare Disease groups can work with young people in their respective disease areas. Come and join the conversation!

Cambridge Rare Disease Day Lecture and Networking Event – 28 Feb 2018

You are invited to attend the Rare Disease Day Cambridge Lecture

Wednesday, February 28, 2018 from 5:30 PM8:00 PM

University of Cambridge School of Clinical Medicine, William Harvey Lecture Theatre

Jointly hosted by Cambridge Rare Disease Network and NIHR Cambridge Biomedical Research Centre

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 involved in such research and those directly affected by rare disease
  • An opportunity to talk with researchers and professionals
  • Connecting with other patients and carers
  • Refreshments on arrival and  drinks reception following
  • With representatives from Rare Disease Community, Patients, charities and researchers the evening offers excellent opportunities for networking and sharing information and ideas


Professor David RowitchProfessor of Paediatrics and Head of Department, University of Cambridge  “Early detection and advanced therapy for childhood neurogenetic diseases in the UK”

Professor Patrick ChinneryHead of Department for Clinical Neurosciences “Mitochondrial Disease”

David Rose, CRDN Volunteer and GOSH speaker living with ultra-rare Occipital Horn Syndrome “My Patient Journey and What Research Means to Me” 

Dr Victoria ER Parker, Consultant in Endocrinolgy and member of the Segmental Overgrowth Study at WT-MRC Institute of Metabolic Science (IMS), Addenbrooke’s Hospital presenting the results of their clinical trial of sirolimus in PIK3CA related overgrowth

Professor Fiona Karet, Prof of Nephrology and Consultant in Renal Medicine at the School of Clinical Medicine, Cambridge whose team’s research explores kidney malfunction and mutations of genes in rare kidney conditions such as Gitelman Syndrome. They also study common inherited kidney disorders such as polycystic kidney disease.   

Dr Ian Roberts, Chief Technology Officer for Healx Ltd  “Drug re-purposing for Rare Diseases”

Dr Suthesh SivaplaaratnamClinical Research Fellow at the University of Cambridge ” New gene discovery in bleeding disorders: From living room to supercomputers”  explaining how his team undertakes family studies, why they are so useful and how data is used. 

About Rare Disease Day 2018 marks the 11th year that the internationally rare disease community will celebrate Rare Disease Day. On 28 February 2018, 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.

Patient Centred Focus at Genomics Festival 30-31 Jan 2018 – Front Line Genomics

In January 2018 CRDN visited the 2 day GenomicsFest at ExCel in London hosted by Front Line Genomics. We heard inspiring talks and made great connections for the future. It was exciting to see Rare Disease charities and individuals taking to the stage to share the importance of genomics in diagnosis and personalised treatment and to give the science a human side.

The Transforming Genetic Medicine Initiative have written a great blog about the patient centred focus of the festival which we share here.  Read on to see how rare disease charities, individuals and advocates had their say…….

Patient-centered focus at Festival of Genomics

Thanks to for allowing us to share their blog

Parachute Jumping for CRDN

parachuteSix incredible ladies, Helena Baker, Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton will be parachute jumping for CRDN on the 4th June!! We’ll be there to cheer them on and watch them fly at Beccles Airfield, Norfolk. Please help our courageous ladies achieve their £1,800 fundraising target by donating through Helena’s Just Giving page, Emily’s Just Giving Page and Zoe’s Just Just Giving Page

So why CRDN?   Helena Baker is Vice President of the Nursing Medical Research Network and was one of the key speakers at our event in March 2016, where we discussed the potential need for a rare disease nursing service.

Helena BakerHelena was born with Fibular Hemimelia, a rare congenital disorder that left her, in her own words, with one leg shorter than the other– a tiny club foot, lots of missing ligaments in her leg and body, and a fierce determination not to let any of these problems stop her from doing what she wanted in life, except perhaps play hockey. Helena recalls growing up having more operations than hot dinners, but never received a diagnosis.

Eventually, just before she turned 50, she was told of her diagnosis. Doctors were clear there was nothing her mother could have done during pregnancy that would have changed the outcome. She is sure that having had a diagnosis earlier would have made a world of difference to her parents.

Helena has been recovering from more surgery having had her right leg amputatedHelena BakePNG below the knee last September and is currently learning to walk again. She is continuing to make a great recovery as she’s getting to grips with her new prosthetic leg.  Unfortunately there’s been a slight set back with Helena breaking her remaining ankle. Helena says “On the day, I’m not allowed to jump wearing my prosthetic leg and I’m also not allowed to land on my recently broken one remaining ankle.  So I’m going to land on my instructor who will be delighted.  I’m planning on testing them out beforehand for looks and comfort. “ Helena’s grit and good humour never cease to astound us. She reassured us  “we are approaching our impending doom in the spirit of total denial, all desperately trying to pretend that it’s not happening”.  That’s the spirit Helena!!

Because of her strong belief that having access to a rare disease nursing service would have been a huge support to her and her family, she has decided to take on a parachute jump on Sunday 4th June 2017 at Beccles Airfield alongside Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton, to help raise funds for CRDN towards their goal of establishing such a nursing service for those with rare diseases.


Thank you for your support and good luck and a huge thank you to Helena and her team!!

CRDN Summit 2016

Following the sell-out success of its first summit in 2015, the Cambridge Rare Disease Network is once again bringing international leaders and local experts together in Cambridge to bridge the gap between research, industry, business and patient groups.

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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