CRDN trustee helps new mums learn genomics from home

Dr Gemma Chandratillake, CRDN trustee and East of England Genomics Education Lead, attended the No Isolation AV1 avatar breakout workshop at the CRDN Summit 2017 in October. Like others attending she quickly began to see applications for the robot beyond it’s original purpose, to reduce isolation for children living with long-term, chronic illness.  At the summit, Mio Kristiansen, from No Isolation, gave the audience an opportunity to see the robot in action at it sat on the stage during the afternoon talks, controlled from Edinburgh by Rare Disease carer and father, John Wallace. John was unable to leave his family to travel to the event so joined us via AV1, watching the action live on his laptop at home, and on one occasion, heckling the speaker and being told to be quiet!

So how did this inspire Gemma to help her students? Read the article and watch the recent Channel 4 news footage from Jon Snow here 


And the overall winner of our #CRDN2017 Patient Journey poster competition is…..

Suzanne Morrison of Cambridge and Lynn Laidlaw have collaborated, using Suzanne’s graphic design skills and wonderful artistic vision, to create a patient journey poster submission for the Cambridge Rare Disease Summit 2017 for the Vasculitis UK charity. Suzanne has Bechet’s Disease and volunteers with the charity.

We are delighted to announce that the Vasculitis UK poster has been nominated as the best overall design for it is incredible creativity and impact. Judges said “The novel way in which the journey was portrayed using the characters from Cleudo really cleverly draws you in and is extremely memorable. Congratulations to all of your for your contribution to this – you should be very proud!!”

To learn  ore about how the poster was conceived and it’s message read on here and view the the full poster here


We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for……

At an EU Conference in 2013 Kay Parkinson displayed a poster of the many conditions affecting Alström patients. Kay is CEO of CRDN, founder of Alström UK and CEO of Alström Europe and a passionate rare disease advocate. The poster was spotted by chance by the CEO of Prometics who noted that in this syndrome, fibrosis of unknown etiology develops in multiple organs. As a result, after overcoming barriers, they carried out the first UK clinical trial for their PBI-4050 fibrosis treatment. The drug gained EU and US Orphan drug status this year.

We wanted to give other Rare Disease patients and groups the opportunity to have maximum exposure to pharma and biotech companies, trusts and clinicians to share information, talk to each other and ultimately foster collaborations, and so launched our #CRDN2017 Patient Journey Poster callout. Patients, advocacy groups and charities alike have risen admirably to this challenge and we have an outstanding collection of almost 40 Posters and accompanying patient journeys – as time-lines, poems and stories to bring the science alive.

Come and see the exhibition at #CRDN2017 on 23 Oct. Meet the poster creators, learn about rare disease, look for collaborations…….

On display and as part of your delegate handbook to take away you’ll see posters about:-

The full list here:-

Tay Sachs and Sandhoff, Mal de Debarquement Syndrome, Scimitar Syndrome, Ataxia, Charcot Marie Tooth Disease, Familial cold autoinflammatory syndrome type 2, Xeroderma Pigmentosum – XP, Hyper IgD Syndrome (HIDs), Trisomy 13/18, Vasculitis, Leber Hereditary Optic Neuropathy, Lipodystrophy, pemphigus/pemphigoid, Stiff Person Syndrome, Gitelman Syndrome, Complex Regional Pain Syndrome, Pitt Hopkins, Lymphangiomatosis/Gorham Stout Disease, Genetic Overgrowth PIK3 , HSAN1E, Akinetic Crisis in the autosomal dominant LRRK2 (G2019S) Parkinson’s Disease, Alkaptenuria AKU, Blounts Disease, Sotos Syndrome, Aarskog Syndrome, Kawasaki Disease, Ring Chromosome 20 Syndrome, Occipital Horn Syndrome, Wyburn-Mason syndrome, Acromegaly, Wilson Syndrome, CSF Leaks, Bardet-Biedl Syndrome, Duchenne Muscular Dystrophy, hereditary spastic paraplegia with a few more to come…..

Through to the Finals!

HLMHavas Life Medicom a ‘specialist led, unified communications agency delivering connected healthcare communications, informed through fresh insights, smart thinking and inspired ideas’ have been supporting CRDN pro-bono over the last year in creating communications materials for our annual summit. They have done a superb job of listening to our needs, working with our small team and the odd hours they keep due to other work commitments, and in designing high quality promotional and delegate materials.

award-logo-communique (1)Havas Life Medicom entered CRDN’s Summit 2016 into the Communiqué Award’s 2017 and we’ve had the exciting news that it has been nominated as a finalist! This is a great privilege as these awards, and in particular the ‘Excellence in Communications via a Live Event or Stand-Alone Activity’ category which the 2016 Summit was entered in, are always extremely competitive, so we will be up against some tough competition. Being shortlisted is a real achievement and we are all be very proud. The awards ceremony in on 6th July 2017, so we will keep you posted through social media.

Finalists in the Communique Awards for Excellent in a Stand-Alone Activity


We were delighted to receive the wonderful accolade of becoming finalists in the Communique Awards 2017 for our #CRDN2016.  Our conference director, Jo Balfour, attended the awards ceremony in London with the team who supported us to develop the summit communications and marketing materials, HavasLife Medicom. Congratulations to the winner of this category, ‘From clinical trials to real-world evidence: lessons from a cross-speciality approach’. For the full article, the winner and other entries read on.…..




Unique Feet: a contemporary dance group for children with rare diseases

We o12472775_10153354357251721_7305711771894355513_nften think of rare diseases in medical terms  and its easy to lose sight of the children and families at the heart of our work.

So, for the recent charity ball hosted by Sobi, the CRDN formed a contemporary dance group – ‘Unique Feet’ – featuring children with rare diseases.

The kids rehearsed together weekly for several months, and over that time a lovely sense of community has emerged. We hope to continue this… stay tuned!

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