Rethinking rare diseases-treating the whole patient

Our CEO Kay Parkinson on patients and their families as experts, working collaboratively with other experts in rare disease, in an article in Pharmaphorum magazine.


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 

 


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 http://www.thetgmi.org for allowing us to share their blog


CRDN Summit 2017 – The Film

We collaborated with Lucia Tambini,  filmmaker producing films for charities including Oxfam, Tourettes Action, SeeAbility and Walk the Walk, to capture the essence of our annual summit in 2017 and what it is about our city of Cambridge which offers great opportunities to drive change in Rare Diseases.

The theme of CRDN2017 was ‘Re-imagining the Patient Journey’ and we worked hard to give patients and patient groups a platform and voice at the event through the Patient Journey Poster Exhibition and the Lightning Pitches element of the day.

For those who attended, take a look to see if you made it on film! For those who were unable to attend but are curious, watch the film and be inspired to attend this years RareFest event – a weekend of celebration of everything rare on 30 Nov and 1 Dec 2018.

Watch the CRDN Summit Film 2017




Findacure reflections on CRDN2017 summit – Re-imagining the Patient Journey

On 23rd October the rare disease community gathered in Cambridge for the Cambridge Rare Disease Network’s third annual summit. This day long conference is always a great opportunity for Findacure to meet up with the rare disease community on our own door step, and we were thrilled to be invited to speak on the day. Rather than give a blow by blow account of the day, Findacure’s CEO Rick decided that his blog for the week would highlight some of its major themes.

All conferences are different. They have a different focus, target a different audience, and deliver a very different atmosphere. In a month filled with conferences, including Rick speaking at Bio2Business, an orphan drugs and rare diseases conference in London, and Katie attending EyeforPharma, it is the conferences focusing on rare diseases that have been particularly special. In addition to our own Newcastle Rare Disease Showcase event (more about that soon), the Findacure team had the pleasure of attending the CRDN summit.  After a great day, I thought that I’d share my thoughts on what the CRDN summit stands for.

C is for collaboration

Collaboration really was at the heart of the CRDN summit. The team had worked hard to select a programme of talks that showcased projects in the rare diseases that involved many different disciplines. The specialist orphan drug pharmaceutical company Sobi spoke about their work with patient groups, both to help develop new treatments, and to improve the way that drugs are delivered to ease their day-to-day lives. The Mendelian team highlighted the work there online platform is doing to provide an effective digital diagnostic tool which is accessible and helpful to primary care professionals. Importantly this tool is responsive and relies on the input of clinicians around the world to improve its results. Finally Kay Parkinson, CEO of Cambridge Rare Disease Network, gave an excellent talk about her personal experience as a mother of two children with Alström syndrome. When exhibiting a poster about the condition at an international conference, she made contact with a pharmaceutical company who had a product that had the potential to act as a treatment for this condition. From this serendipitous meeting, a research project and clinical trial for this ultra-rare condition has snowballed.

R is for “Read all about it”

A great innovation of the conference, and real highlight for me, was the patient journey poster competition (a project born from Kay’s own poster experience). Prior to the conference 33 different patient groups took the time to produce posters to summarise their rare condition and their own patient journey. These posters were shared with all delegates in printed form so that everyone, whether clinician, researcher, life sciences worker, or rare disease patient, could read all about the impact of a multitude of rare diseases.

Even more excitingly five poster authors were selected to give a five minute lightning talk during the conference, telling the audience a little about their condition and their three wishes for the future. The CRDN team asked Findacure to chair this session, and Mary Rose and I brought our dreaded bell along to help ensure that all of the speakers kept to time. It was a real pleasure to be involved in this session, and the talks were of an exceptional quality.

D is for diversity

The whole day was hugely diverse, with a number of different sessions helping to bring different interest groups into the rare disease fold. The team from Students4RareDiseases were involved in a session with medics, students, and genetic counsellors focussing on the role early career healthcare professionals can play in rare diseases. There was also a session focussing on the role of technology in rare diseases, with the team from No Isolation showcasing a robot avatar, which is designed to help children who are unable to attend their school due to ill health remain engaged in the classroom. These two breakout sessions combined with the CRDN Companies Forum and patient journeys posters, really ensured that everyone had a place at the event.

N is for new hope

The whole event was a great showcase for rare diseases, and we are grateful to the CRDN team for giving Findacure such an exciting role in the day. Between the talks on drug repurposing, gene editing, and the impatient patient revolution, I left the day with the sense that there is lots to look forward to for rare disease patients in the near future.



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

 


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 and 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

loho