Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

Summit Patient Journey poster creators and Unique Feet parents on tour at the Wellcome genome campus. 

As part of our #CRDN2017 summit, 33 rare disease patient groups and individuals created posters for exhibition and inclusion in a Patient Journey poster book. As a thank you and an opportunity to meet others and to continue to learn, the Cambridgeshire based Wellcome Genome Campus Engagement Team treated them and some of our Unique Feet group parents to a fascinating presentation, a guided tour and delicious lunch.

Dr Steve Scott from the Public Engagement Team delivered an interesting introductory talk about the history of and the pioneering work being undertaken at the Wellcome Genome Campus.  Following Prof Matthew Hurles treated the group to a fascinating and informative presentation and discussion about the DDD Deciphering Developmental Disorders project. 

The group were full of curiosity and questions and we wished we could have stayed all day! 

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 1
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 2
It was interesting to hear how they were re-looking at those not diagnosed the first time round and getting more results
Sue

Pitt Hopkins UK

Being a lay person I found the content easy to follow and definitely learned new information. 
Angela

Action Duchenne

Amazing! Really interesting and wish we had more time. It would be great for them to give us more understanding – why do genes go wrong? 
Sue

Unique Feet parent

What lessons were learnt from the DDD project?

Exome sequencing is cost effective for diagnosis now
Sequencing parents enables rapid, accurate interpretation
Sharing data across centres:
increases the accuracy of diagnosis
increases discovery of new genes
model for translational research in other disease areas
Informatics underpinning is essential
Up front capture of clinical information is critical
Expert-curated knowledge underpins clinical interpretation
Regular re-interpretation of undiagnosed patients
Barriers to translation into existing NHS genetics services

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 3
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 4
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 5

Rare Disease Day 2018 – CRDN/NIHR lecture event

Rare Disease Day 2018 – CRDN/NIHR lecture event

CRDN and NIHR Cambridge Bioresource team collaborate to host a Cambridge rare disease day lecture event #ShowYourRare

Rare Disease Day takes place on the last day of February each year. The purpose is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on the lives of those affected.

Since its launch by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a substantial of media coverage. 

Following on from 2017, the theme for RDD is once again research. There has been great progress in rare disease research, often driven by effective collaborations between companies, researchers and patient advocacy groups.  Click here to find out more about the vital role patients play in the research process.

Together, CRDN and the Cambridge NIHR Bioresource team created a programme of short talks to showcase some of the ground-breaking research  being undertaken in Cambridge into a range of rare conditions.

 

The theme of rare disease day 2018 is research.
The best research translates findings into meaningful health outcomes and  involves patients  at all stages.

#showyourrare                   #whywedoresearch

 
Cambridge Rare Disease Network - Rare Disease Day 2018 - CRDN/NIHR lecture event 6

Snow didn’t stop play…

Despite the snow and chilly temperatures calling for a cosy evening in on the sofa, the rare disease community came out in force to celebrate Rare Disease Day 2018 at the Uni of Cambridge School of Clinical Medicine, William Harvey Lecture theatre.  Dr. Mike More, Chair of Cambridge University Hospitals, opened the evening for an exciting mix of attendees: those living with rare disease and their family members; young health professionals and students; clinicians; company and charity representatives working in related fields and the curious. Those gathered were treated to excellent presentations about current research from a wide range of speakers based on the Cambridge Biomedical campus and in the city. See the agenda opposite for info on speakers and their talks.

We used Glisser technology at the event to encourage the audience to get involved and engage with speakers by posing questions, responding to polls and sharing slides via social media. For the speaker responses to delegate questions please see here 

Rare Disease Day 2018 Addenbrooke’s Concourse

Rare Disease Day 2018 Addenbrooke’s Concourse

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Kay and Jo at Addenbrookes concourse meeting the staff and public

Some of the CRDN team headed to Addenbrookes to celebrate Rare Disease Day 2018 by meeting patients, visitors and staff with other rare disease advocates at the concourse.

CRDN’s Kay Parkinson and Jo Balfour took shelter from the snow to spend a busy few hours with other charities and departments from CUH chatting to patients, visitors and staff at Addenbrookes concourse in celebration of Rare Disease Day.

We’re always amazed by people’s curiosity, their personal stories and the knowledge we can share and gain from these kinds of interactions. Thanks for stopping by!

It was a great opportunity to let people know about our joint CRDN/NIHR BioResource lecture event later that evening too.  Read our next blog post to see who our guest speakers were.

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

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.  Check out the link to see how rare disease charities, individuals and advocates had their say. Many thanks TGMI for allowing us to share your blog and for ensuring patients and their advocates are at the heart of the conversation.

Cambridge Rare Disease Network - Patient Centred Focus at Genomics Festival 30-31 Jan 2018 - Front Line Genomics 8
Image from Front Line Genomics website

CRDN Summit 2017 – The Film

CRDN Summit 2017 – The Film

We collaborated with Lucia Tambini,  film maker 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 year’s RAREfest event – a weekend of celebration of everything rare on 30 Nov and 1 Dec 2018.

 

Watch the CRDN Summit Film 2017…

Cambridge Rare Disease Network - CRDN Summit 2017 - The Film 9

DNA Digest – reflecting on the CRDN Summit 2017

DNA Digest – reflecting on the CRDN Summit 2017

Rare diseases are rare but rare disease patients are numerous. 

DNA Digest said “One of the most impressive parts of the program was patients presenting their posters. Each person was suggested to share three wishes with the audience, regarding the future care of people with their conditions. Becoming more visible, recognised and connected was a unanimous wish of the patients”.

Click to read the whole article.

Ring20 Research and Support UK share their take home messages and collaborations from #CRDN2017 Summit

Ring20 Research and Support UK share their take home messages and collaborations from #CRDN2017 Summit

Allison Watson of Ring20 Research and Support Uk attended #CRDN2017 summit with her Patient Journey Poster.

“A great innovation of the conference and real highlight for us was the patient journey poster competition. Prior to the conference, we were 1 of 33 different patient groups who took the time to produce posters to summarise their rare condition and their own patient journey. I (Allison) have never produced a poster before and have no background in Graphic Design, but with some guidance from the lovely CRDN team I gave it a go, because I felt the importance was in getting the word out about r(20) syndrome, how it affects us and what we want, not the quality of my artwork!”

Read Allison’s full review of our 2017 Annual Summit on the Ring20 Research and Support UK website.

 

Cambridge Rare Disease Network - Ring20 Research and Support UK share their take home messages and collaborations from #CRDN2017 Summit 10
Ring20 Patient journey poster competition entry

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

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 doorstep, 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.

Cambridge Rare Disease Network - Findacure reflections on CRDN2017 summit. Re-imagining the Patient Journey. 11
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.

Cambridge Rare Disease Network - Findacure reflections on CRDN2017 summit. Re-imagining the Patient Journey. 12

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.

Cambridge Rare Disease Network - Findacure reflections on CRDN2017 summit. Re-imagining the Patient Journey. 13
Cambridge Rare Disease Network - Findacure reflections on CRDN2017 summit. Re-imagining the Patient Journey. 14

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…

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

Suzanne Morris 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 and Lynn both have has Behçet’s Disease and volunteer for 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 Cluedo really cleverly draws you in and is extremely memorable. Congratulations to all of you for your contribution to this – you should be very proud!!”

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

Cambridge Rare Disease Network - And the overall winner of our #CRDN2017 Patient Journey poster competition is... 15

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

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

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 aetiology 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 launched our #CRDN2017 Patient Journey Poster callout to give others this opportunity to have maximum exposure to pharmaceutical and biotech companies, trusts and clinicians to share information, explore possibilities and ultimately foster collaborations.

 

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 16
Individuals, advocacy groups and charities have risen admirably to this challenge to create an outstanding collection of over 50 posters and accompanying patient journeys – as timelines, 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 diseases and look for collaborations. On display and as part of your delegate handbook to take away you’ll see posters about:

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 17

The full list here:

Tay Sachs and Sandhoff, Mal de Debarquement 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,  Wyburn-Mason syndrome, Acromegaly, Wilson Syndrome, CSF Leaks, Bardet-Biedl Syndrome, Duchenne Muscular Dystrophy, UPS, Hereditary Spastic Paraplegia with a few more to come…

Cambridge Rare Disease Annual Summit – Oct 23 2017

Cambridge Rare Disease Annual Summit – Oct 23 2017

Following the success of our 2 previous summits the Cambridge Rare Disease Network is pleased to announce our 3rd annual International Rare Disease Summit.

Venue: Robinson College, Cambridge will be hosting our event on 23rd October 2017

Costing: tiered pricing with early bird tickets and discount tickets for patients and patient groups, students and start-ups.

 


 

This day long event seeks to create a forum that brings together patient groups, healthcare, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey.

Theme: “Re-imagining the Patient Journey”

We will provide a morning of exploration of inspirational Rare Disease patient journeys where patients and patient carers have been partners in healthcare and treatment development. Take a walk with us through case-studies from early symptoms, dead-ends and steps forward to diagnosis, patient group formation, campaigning and research to pharma collaboration and drug development.
The afternoon will showcase pioneering work being undertaken in Cambridge and around the world to re-imagine and re-write the endings of Rare Disease Patient journeys from drug re -purposing and pharma ‘adoption’ of rare diseases to empowering patient revolution.

 


 

Patient groups a chance to showcase posters in a Patient Journey gallery and all delegates will enjoy wide networking opportunities with exhibition stand holders from industry and patient organisations.
Followed by a drinks and canape reception in the pleasant surroundings of the Crausaz Wordsworth building on site.

 


 

Confirmed Speakers with more pending:

 

  • Dr Ségolène Aymé – Founder of Orphanet
  • Dr Kate Bushby – Professor of Neuromuscular Genetics, Newcastle University John Walton Centre for Muscular Dystrophy Research
  • Dr Ana Mingorance – Dracaena Consulting, Chasing cures for neurological and rare diseases
  • Dr Rick Thompson – Head of Research, Finadacure
  • Neil Dugdale – General Manager, UK and RoI, Sobi
  • Kay Parkinson – CEO, CRDN and Alstrom Europe
  • Dr Owen Vaughan – Senior Director, Regulatory Affairs, ProMetic Pharma SMT Ltd
  • Dr Sanjay Patel – Senior Director, ProMetic Pharma SMT Ltd
  • Daniel Lewi – CEO, Cure and Action for Tay-Sachs Foundation

Rare disease nursing in Cambridge: a debate

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.
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