Jeans for Genes Day 22 September 2017

Who’s taking part in #jeansforgenes on Friday? We are and can’t wait to see what our partners get up to Duxford Primary School Cambridge University Health Partners @Association of Medical Secretaries and Practice Receptionist

If you’re down at Addenbrookes Hospital Outpatients on Friday they’ll be taking part for CRDN

Thanks to Jeans for Genes Genetic Disorders UK for the opportunity to get involved

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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.



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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