Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

Beyond the Diagnosis: A specially curated exhibition of portraits for the RAREsummit21 gallery

Seeing Beyond the Diagnosis: a virtual exhibition that puts a face to rare diseases.

When Patricia Weltin first put a call out for artists to paint portraits of children with rare diseases to share with the medical community, she had no idea how quickly the project would grow into a ground-breaking exhibition involving more than 70 artists and 135 children around the globe.

Beyond the Diagnosis first came to life five years ago when Patricia invited a handful of local artists and friends from the rare disease community in Rhode Island, USA to take part in a project that would encourage the medical community to look “beyond the diagnosis” to patients behind the disease.

Five years on, she has gathered portraits from artists and children with rare diseases living as far afield as Bali and Chile – and the artwork they have created together has touched the hearts and minds of tens of thousands of people at medical schools, hospitals, medical conferences and beyond.

Now Patricia is bringing a virtual gallery of these poignant portraits to the Cambridge Rare Disease Network’s #RAREsummit21 on 7 October 2021. And it’s Patricia’s goal to make sure many thousands more people see this thought-provoking exhibition too.

“We want to make people see our humanity,” says Patricia. “This is somebody’s child, brother, sister, grandchild, niece, nephew, friend. They’re just like other children.”

Hunter portrait Beyond the Diagnosis

Hunter was diagnosed with Russell-Silver Syndrome, which is a growth disorder characterised by slow growth before and after birth. His portrait was painted by Rhode Island-based artist Dan Lake.

Hunter’s mother Tiffany said: “He is a happy, fearless child. He is a proud big and little brother who loves animals and has accepted that he is ‘different’ than the rest of the world and takes pride in who he is. He is full of life and is always in a good mood.”

Read more…

“People see the names of the disease and think it’s terrifying,” she adds. “They can’t engage with it, but they can engage with these kids through the artwork. We have so many artists using so many different styles and each portrait is a little gasp.”

A project from the heart to the heart

Patricia’s inspiration from Beyond the Diagnosis came from her own experience as the parent of two daughters who have a rare disease called Ehlers-Danlos Syndrome. It took 18 years for her eldest daughter, now 25, to receive a diagnosis and to receive the treatment she needed, including brain surgery.

“I was interested in my connection to the doctors and how we could have them see us instead of seeing a complicated disease,” explains Patricia. “They needed to see that we were people and I think that is lost in medical school.”

“You can’t teach 7,000 rare diseases, so you have to be innovative and think about ways to engage medical students before they become doctors with the reality of what’s out there,” she adds.

Medical students are often taught that, when they hear hoofbeats, they should think about horses, not zebras, explains Patricia – in other words, they should think about common diseases in the first instance.

Amber Beyond the Diagnosis Blog

Amber was diagnosed with Giant Axonal Neuropathy at the age of 5 when she started to have problems walking. Her portrait was painted by Venezuelan artist, Jota Leal.

Amber’s dad Miguel said: “Amber is the strongest girl I know. We call her Super Girl!”

​Read more…

“We want them to consider it might be a rare disease,” she says. “We want them to think the hoof beats might be zebras!”

It was when Beyond the Diagnosis exhibited 35 portraits at Harvard Medical School that people started to take notice of the project. There was national and online media coverage. And when a producer called from the TV network CBS one Sunday morning, Patricia was completely taken aback.

“We had 7 million people learning about rare diseases,” she says. “I believe it was the first time on a major US TV network that they talked about rare diseases as a whole and our unmet needs. The whole rare disease community was so excited and that just opened the floodgates. We had people contacting us from all over the world.”

Within a few years, Beyond the Diagnosis had 130 portraits representing different rare diseases touring each year to prestigious venues like the Food and Drink Administration (FDA) and the National Institutes of Health (NIH).

All of the artists give their time freely and many of them become very close to the families of the children they are painting – and go on to paint portraits for other families and children too.

“I always say it’s a project from the heart for the heart,” says Patricia. “I think that the connection and gift that the artists are giving is apparent in all of the work that you see.”

“This is someone doing their absolute best to capture these children – all of the work except one is done from photos. We give the artists all the information we can – we ask the parent to write about the child. So the artists are not just looking at a picture – they’re getting to know each child.”

The project was about to go global when the pandemic hit. So Patricia decided to take
Beyond the Diagnosis online. The first virtual tour was seen by thousands of people in 23 different countries.

“I hate everything about Covid, but one of the bright spots is that we’ve found a way to reach people who wouldn’t have had the chance to see a live exhibit in a way that’s very calming and beautiful,” says Patricia. “It’s so beautifully done. You’ll see the portrait and you can click on a picture and it tells you about the disease, the child and the artist. You can sit and take your time and do it at your own pace.”

You will have a chance to see a specially tailored exhibition at the Cambridge Rare Disease Network’s #RAREsummit21 on 7 October 2021.

“For us, every day is Rare Disease Day,” says Patricia, who is currently writing a book called Diseases without Doctors. “It’s the most difficult life imaginable. It doesn’t end for us. But we really want to share these beautiful kids from all over the world with the people who need to see them – it’s just so humbling. It refocuses your purposes on what’s important in life.”

Find out more about Beyond the Diagnosis at www.beyondthediagnosis.org

Sign up for your Vibrant Vital Virtual #RAREsummit21 tickets for a chance to see the latest Beyond the Diagnosis Virtual Tour here…

The Hackathon Challenge: Two hours, 252 opinions, one priority

The Hackathon Challenge: Two hours, 252 opinions, one priority

Too many cooks or the perfect recipe for success?

and  and ideaas and innovate Important to every CRDN event is equity of voices and we pride ourselves in bringing together the different rare disease stakeholders on an equal standing. RARESummit 2019 was no different and with innovation and stakeholder voices at the heart of our planning we launched our first Hackathon; “Looking to the Future of the UK Strategy on Rare Diseases”.

 The aim of the hackathon was to gather the collective voices of those attending RARESummit and give them a platform and structure within which to feed directly into the newly launched “National Conversation on Rare Diseases”  launched in autumn 2019 by Baroness Nicola Blackwood (Parliamentary Under Secretary of State at the Department of Health and Social Care [DHSC].

The outcome was a report capturing the opinions and ideas of the rare disease community: patients; advocates; and professionals on the impact of the existing 2013 UK Rare Disease Strategy and their top priorities for the UK Rare Disease Framework 2020. The report laid out each priority alongside the top-voted innovative idea to help drive this priority area forward.

 

It is important to hear from the people who know the problems better than anyone else, and to move forward from this current Rare Disease Strategy to the next.

Baroness Nicola Blackwood

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 1

To usher in the hackathon, Nicola Blackwood gave an impassioned speech to the summit speaking honestly of her own experience of living with a rare disease and the challenges that brings and calling on the audience to share their experiences and solutions for a future strategy. You can watch her speech and Q+A with the audience below

 At RARESummit19 we wanted to capture the moment and give all participants a voice. Could this work? Could we really throw individuals bringing such wildly varied experiences to the table and expect them to listen, contribute, collaborate, compromise and prioritise? Absolutely!

 

 

Delegates were invited to participate in cross-sector discussions to identify priorities across five key themes: diagnosis, coordination of care, acceleration of research, access to new medicines and reimbursement options, and patient empowerment. This provided an opportunity for representatives from patient organisations, biotech and pharma, academia and health services to share experience, knowledge, and innovative ideas to identify priorities to further improve the lives of those impacted by rare diseases in 2020 and beyond. 

Given a tight schedule of two hours to get into cross sector groups, share experiences and perspectives, thrash out ideas, agree priorities, create pitches, deliver pitches and run through 2 rounds of voting, the pressure was on to stay focussed.

“The whole hackathon took under 2 hours and this time pressure was an important part of the process. We wanted to capitalise on the compressed timeframe to really drill down to priorities” said CRDN’s Operations Manager and creator of the hackathon activity, Jo Balfour.

Not only did the groups discuss their theme priority but they brainstormed and developed innovative solutions to the challenges of delivering a strategy for this priority.

 

We wanted people to reflect on what they had heard during talks over the course of the day and use this, alongside their own experiences, to agree on priorities and develop solutions to these challenges.

Jo Balfour

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Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 3

Below is a brief summary of each of the themes, including the winning priority for each theme and the overall winner. Download and read the full Hackathon Report created pro-bono by Cambridge based Med Comms company Costello Medical.

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 4

THEME 1: Diagnosis

Timely diagnosis is one of the fundamental unmet needs for patients with rare diseases and a challenge that many organisations and companies are working hard to overcome. Even with investment in this area current time to diagnosis is on average 4.8 years with patients seeing an average of 7 specialists.

Discussions centred around

• Wider use of prenatal and early years screening

• Whole Genome Sequencing for those with unusual or patterns of symptoms

• Improved collection of quantitative and qualitative data and centralised databases

Voted Top Priority for Diagnosis

To end the ‘diagnostic odyssey’ by introducing a more streamlined process for the diagnosis of rare diseases that prevents patients being moved from GP to different specialist groups within the NHS without an accurate diagnosis. This includes:

• Introduction of a policy whereby patients are flagged if no diagnosis is made within a fixed number of GP visits, or a given time period (such as 12 months). Once a flag is triggered the GP needs to consider a different diagnostic approach such as genetic screening

• Clinical Commissioning Groups (CCGs) could use levers and drivers to incentivise both GPs and hospitals to flag undiagnosed patients; possibly via the introduction of a Commissioning for Quality and Innovation (CQUIN) payment framework

THEME 2: Re-thinking coordination of care

People living with a rare disease often require a complex package of care, including access to clinical specialists across hospital departments, and support from social and community care services. A multidisciplinary and coordinated team approach is necessary to ensure that patients and caregivers have access to integrated care across multiple services, which also considers their needs in daily life at home, school or work. However, results from a recent survey of 3,000 patients revealed over 65% reported having to visit different health, social and local services over a short period of time. In some cases, this can involve significant travel.

Discussions centred around

• The need for dedicated care coordinators to manage the multidisciplinary health teams involved in care of a patient

• GP’s navigating local hospitals and other agencies for specialist care services

• A need for nationally recognised care guidelines and pathways to ensure sufficient signposting to a point of contact for rare disease patients to answer the “What do I do?”

Voted Top Priority for Re-thinking coordination of care

Specific actions recommended during the cross-sector group discussions highlighted some unmet needs in terms of coordination of care:

• Creation of a “shared, cared, digital toolset” that would allow patients, caregivers and healthcare professionals to have access to the same datasets

• Use information to allow shared decision making between the patient and healthcare professionals

• Work at a national level; mandating that interoperability is a standard, overcoming acute needs in this area over the next few years

• Drive payment reform; with reimbursement linked to successful outcomes for patients and not just the healthcare system

THEME 3: Acceleration of rare disease research

Research has played a critical role in improving our understanding of the biological basis of rare diseases and their underlying cause(s). Since the implementation of the Orphan Drug Act in 1983, an increasing number of companies are taking an interest in developing treatments for rare diseases but despite these improvements, 95% of rare diseases still have no licenced treatment, and fewer than 10% of patients with a rare disease receive a disease-specific treatment.

Discussions centred around

• High drug development costs and lack of enough patients for clinical trials

• GDPR and maintaining registries

• Patient access to peer to peer support

Voted Top Priority for Acceleration of rare disease research

To address such challenges the group identified the need for a publicly run, national rare disease registry. ‘RARE Bridge’, would give every patient in the UK with a diagnosis the opportunity to opt in and be contactable. The registry would serve the following key purposes:

• Provide a screening library of genotype, phenotype and natural history of patients

• Provide patient data to the pharmaceutical industry, via a paid subscription, for the purposes of drug development

• Pharmaceutical industries using the registry could search by both phenotype and genotype, potentially offering both symptomatic treatments and cures

• Enable patients and patient advocacy groups to contact other patients with a specific condition or genetic marker, providing an element of social support

THEME 4: Access to new medicines and reimbursement

Whilst a major hurdle for bringing treatments to patients is associated with drug development challenges, delays in treatment also occur because patients face barriers in securing access to new treatments for their conditions. Orphan drugs often exceed cost-effectiveness thresholds in Health Technology Assessments (HTA) due to a lack of evidence for proven clinical benefits of the drug combined with high acquisition costs. Thus, new drugs with potential benefits for patients with rare diseases may not be recommended for reimbursement.

Discussions centred around

• Greater involvement of patients in the HTA process

• International clinical trials as a strategy to help overcome barriers for the enrolment of more patients with rare diseases

• Building robust real-world evidence (RWE) data sets that can be used to support HTA submissions

Voted Top Priority for Access to new medicines and reimbursement

Re-thinking of how economic evidence is generated for rare diseases to include a better understanding of the cost impact of having a rare disease from the perspective of both patients and their carers, for example:

• Introducing a sliding incremental cost-effectiveness ratio (ICER) scale, which incorporates a potential increase for very small populations such as ultra-rare diseases

• Flexibility to account for the use of Quality of Life (QoL) instruments that do not really measure the true impact of rare diseases on patients

• Incorporation of modular tools that account for the broader impact of the rare disease on caregivers, weighted according to the disease (e.g. mobility issues)

• The ICER threshold used by NICE should not be determinative (especially for ultra-rare diseases) and the introduction of Managed Access Agreements (MAA) should be considered when there is uncertainty over funding for a specific treatment

THEME 5: Empowering those affected by rare diseases

Helping patients become more knowledgeable and allowing them to take control over their bodies, disease and treatment is essential, so much so the World Health Organisation has described patient empowerment as a “prerequisite for health” and a “patient self-care strategy to improve health outcomes and quality of life among the chronically ill”.

Discussions centred around

• Using patient data as a route to patient empowerment via a national rare disease registry, where patients can access their own data and search for and connect with patients, participate in research

• Providing resources for patient groups to grow their information technology (IT) and communication skills so that they can support patients to obtain information and guidance on living with a rare disease

Voted Top Priority for Empowering those affected by rare disease

Education and knowledge sharing for patient and patient groups to overcome fragmentation of information and to avoid competition for funding amongst patient groups. This can be achieved by:

• Developing a series of online module templates that outline best practice, e.g. advice for GPs on diagnosing a rare disease, fundraising, policy development, engaging with the research community. Anyone will be able to contribute to these modules and a user rating/feedback system (like TripAdvisor) can be added

• Funding by pharmaceutical companies could be used to give back to patients and patient groups, and provide seed-funding so that smaller organisations are able to grow their capacity

 

Winning priority

With 31.3% of the votes Accelerating Rare Disease Research was voted as the number one priority. Our cross-sector delegates identified the need for a comprehensive national rare disease registry as a top priority for the post-2020 UK strategy for rare diseases.

The potential of a central database such as ‘RARE Bridge’ could go much further than its ability to collate valuable information from patient registries, patient-reported outcomes, genomic services, and digital health (e.g. from wearable devices). By acting as a screening library of genotype, phenotype and natural history of patients, the database may overcome some of the challenges associated with rare disease research, including difficulties in recruiting a sufficiently large population of patients for clinical trials and indeed could address many of the identified challenges across all of the themes.

We are now working to ensure this hugely valuable outcome does not lose its impact. This final report will be shared with the Minister and we hope, used to feed directly into the National Conversation on Rare Diseases and the continuation of the 2020 UK Rare Disease Strategy.

At CRDN we will continue to use this type of innovative interaction to build events that are impactful, meaningful and succeed in putting the voices of the rare disease community at the fore.

Thank you to all of our sponsors and partners whose continued support allows us to achieve our vision. Missed RARESummit 2019? Catch up on the whole event with our RARESummit 2019 Review.

RARESummit 2019 – Patients as partners

RARESummit 2019 – Patients as partners

Wellcome Genome Campus hosts CRDN RARESummit 19

PASSION LED US HERE 
A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CRDN RAREsummit19. 

For the team at CRDN, September 23rd was the culmination of a busy year of planning and creating,  a process  driven by a passion to move towards a world  where rare disease is at the top of the mainstream agenda and patient are involved as partners in the many design and development processes which impact on their lives. RARESummit19 brought together patients, patient advocacy groups, researchers, health care professionals, tech and pharmaceutical industries,  all leading the way in pioneering partnerships to accelerate change. This year’s venue, the prestigious Wellcome Genome Campus, was a move from our central Cambridge location and a fitting new venue for RARESummit19. We needed more space to cater for a growing number of  attendees – a 58% increase on our inaugural summit of 2015, a brighter and more welcoming exhibition space to showcase more organisations and companies and better accessibility features which sometimes only a modern setting can bring. Home to some of the world’s foremost institutes and organisations in genomics and computational biology, WGC is committed to delivering life-changing science and we felt was the perfect location to make progress in rare diseases.  

Delegate feedback on this change in location was encouragingly positive “Absolutely superb venue and facilities, plenty of room for exhibitors, delegate interaction in breakout sessions and of course, first class auditorium and AV – so important to clearly hear and see every speaker”. But of course, that doesn’t mean we’ll rest on our laurels and we appreciate the feedback about tweaks we could make within the venue to improve things.

We welcomed a number of returning exhibitors and some who were exhibiting for the very first time. The quality and wealth of information, education and support was outstanding – a real testament to the work being done day in and day out by  passionate stakeholders within the rare disease field.

It’s always a pleasure to see representatives from all stakeholder groups in attendance. Diversity in attendance is vital to the success of collaborative and open discussions. The buzz over lunch was testament to the great networking taking place and audience participation was at its highest ever via our event technology Glisser. 199 people logged in to download slides on their devices, ask questions and respond to polls. An astonishing 155 questions came flooding in and 1227 votes were placed during polls.  Thank you to all who attended and contributed so meaningfully in so many different ways. 

MORNING SESSION: Patients as partners in searching for treatments and cures 

Patient engagement and partnership is crucial in the development of drugs and products for the bio- pharmaceutical industry. There has been a move towards a more patient-centric approach by industry over the last few years to varying degrees of success. During the morning session we wanted to shine a light on those relationships that were leading the way and discuss what the future might hold for rare disease patient collaborations.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 5
Dr. Jonathan Milner
© CRDN 2019

Opening remarks

 Dr. Jonathan Milner, CRDN Trustee, Abcam founder and biotech entrepreneur opened the summit and set the scene for an “exciting day ahead”. Dr Milner praised the wealth of expertise that had come together in one room and stated, “it is the motivation of making a difference to patients which unites us.” With the enormous rate of scientific progress and patients taking their health care into their own hands it is an exciting time for genomics and Dr Milner impressed on the audience that for CRDN, an important part of their work was to incubate networks to allow for meaningful collaborations.  

Keynote Speaker

Alastair Kent, OBE presented  ‘From the margins to the centre: A personal reflection on progress for rare disease patients and families’, walking us through the history of scientific progress to demonstrate the speed at which science has advanced rapidly over the last 25 years. He highlighted the 100,00-genome project as a “research milestone” and provided this poignant quote by William Harvey to demonstrate how “rare diseases provide key insights into how our bodies work.”

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease.”  William Harvey.

Rare diseases provide key insights into the way our bodies work.

William Harvey

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Alastair Kent
© CRDN 2019

Panel Discussion
No patient left behind, patient group partnering

Panellists representing a wide range of rare disease patient advocacy groups provided valuable insight into disruptive innovations and the importance of including patient voices at every step of the drug development journey.

Dr Ana Mingorance (CDO Lou Lou Foundation) gave a brilliant visual, accessible whistle-stop tour of the drug development process emphasising the importance of patient groups in this. Charity leaders then shared their successes in working within this process, and the barriers they faced. Carina Thurgood (Co-Founder of Maddi Foundation) battled against the isolation experienced when her daughter was diagnosed with SPG15 and was the only known case in the UK. She has since partnered with a research team at Sheffield Institute for Translational Neuroscience and raised thousands through public appeals and TV appearances to fund their research into a gene therapy. Next steps are to develop a natural history study.

 Allison Watson (Co-Founder of Ring 20 Research) described the challenges she faced finding a large enough cohort when working with an ultra-rare disease. She emphasised the importance of becoming a team player and how the voice of Ring20 has been raised by being involved in the ERN for rare epilepsies and being an EPAG rep. Tanya Collin-Histed (CEO at International Gaucher Disease) inspired the audience with their work ensuring that no Gaucher patient is left behind through their international efforts to support patients across the globe, their international registry development and willingness to embrace wearable health tech to gather much needed data.

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Dr. Paul Wicks
© CRDN 2019
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Dr. Nick Sireau
© CRDN 2019

Moderated Discussion
Disruptive technologies  

Dr Tim Gulliams (Founder of CRDN, and CEO & Co-Founder of Healx), Dr Andy Richards (Digital Health Entrepreneur), Dr David Brown (Co-Founder and Chief Scientific Officer at Healx), Elin Haf Davies (CEO at Aparito) and Dr Pete Chan (Head of Research at Raremark).

Here the importance of technology was discussed including how the internet allows patients and science to connect more readily than before and how Google has been an agent for empowerment. Their discussion covered wearable technologies and their role in collecting “real time” real world data and how it is essential to listen to patients and families in order to document real world evidence beyond the consultation room. The panel discussed the pros of using technology to do the “heavy lifting” in data sorting to relieve the current burden from Doctors and nurses and improve outcomes for the rare community.

The Rare Summit was once again a great opportunity for patients, industry, academia and clinicians to come together to hammer out new ways of developing treatments for rare diseases.

Dr. Nick Sireau

CEO and Chair, AKU Society

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Elin Haf Davies
© CRDN 2019

The Google and Genomics are two technologies that have changed the understanding and opportunities available to people living with rare diseases. Moving forward with rapidly changing innovation we need to make sure that just because “we can” doesn’t mean “we should”. Ethics and patients, and not technology should drive what and how we do next.

Elin Haf Davies

Founder and CEO, Aparito

Moderated Discussion
Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Dr Joanna Segieth (Takeda), Professor Chas Bountra (Uni of Oxford), Steve Rees AstraZeneca), Dr Daniel O’Connor (MHRA), Neil Dugdale (SOBI), Thomas Ogorka ( Orphan Reach) and Dr Nick Sireau (AKU Society).

This was a lively debate on the importance of working with patient groups and of open and transparent collaboration and working practises within the pharma industry.

Questions flooded in from delegates for this talk with the most upvoted question being “How do we get regulators, researchers and industry to work together to agree standardised endpoints that can be measured remotely?” followed closely by “Having worked bridging pharma with patients for 25 years, I’ve never seen Pharma behave poorly towards patients but I’ve seen ‘big’ patient orgs reject working with Pharma. Can we eradicate Pharma as the ‘panto villain’ and rewrite the collaboration story?” and “Is it only about the drugs? What about life science companies ‘developing’ health services for people in parallel to drug development?” If you were at the summit, the film of this discussion will be available to you soon to re-listen to the debate and we’ll be circulating some of the many unanswered questions for people to continue the discussion and share ideas.

Through partnerships, we hope that together we can build a better future with medicines that make a real difference to patients.

Dr. Joanna Segieth

Biosynetix Ltd, Rare Drug Development Solutions

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Dr. Joanna Segieth
© CRDN 2019

AFTERNOON SESSION: Patients as co-designers of technology and care 

Shining a light on some of the successful patient partnerships and collaborations that are making improvements in technology design, personalised care and clinical settings which improve accessibility, symptoms and lived experiences.

Short Talk
Co-creating genetic reports that are understood by
non-specialists

Dr Gabriel Recchia (Research Associate, Winton Centre for Risk and Evidence Communication, University of Cambridge), Dr Gemma Chandratillake (E & T Lead at the East Midlands & East of England Genomic Laboratory Hub) and Menna Hawkins (Polyposis Nurse Specialist).

This team have been working on a collaborative project with patients to redesign genetic reports and the way they are presented to patients to ensure they are patient friendly, thus allowing greater understanding from patients and families of their own genetic circumstances. 

Gemma asked the audience how useful a genetic report would be to them as a patient – 94% answered reasonably to very important showing a clear need for a more accessible design.

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Menna Hawkins
© CRDN 2019
Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 12

RARESummit demonstrated the power of patient-centred approaches [in technology, service-design, research, and drug development] to move things forward for those affected by rare disease

Dr Gemma Chandratillake

Education and Training Lead, East Midlands & East of England Genomic Laboratory Hub

CRDN Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake
© CRDN 2019

Short Talk 
Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Dr. Cecily Morrison and Dr. Sarah Leiter presented the result of their collaboration to our audience. Using assistive technology, they have created a new educational computer programming system for tactile learners. It was fascinating to see how Sarah’s lived experience of visual impairment gave the researchers a unique insight into the true needs of end users with low vision. 100% of the audience responded to the live poll asking if they felt end users should be included in the design yet only 34% had actually had that opportunity. Of those who had, 85% had a good experience. Cecily shared the inclusive design principles they use at Microsoft Research – recognise exclusion, solve for one,  extend to many, learn from diversity. 

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Laurence Wollard
© CRDN 2019

Short Talk
“Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Laurence Woollard delivered a passionate presentation of his journey with haemophilia highlighting the lack of support when transitioning between paediatric and adult services and the challenge of becoming responsible for your own health care at a time of significant physical change. Laurence shared his belief that early intervention with peer led programmes could be the key to tackling this growing problem.

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Baroness Nicola Blackwood at RAREsummit19
© CRDN 2019

What matters to you?
What matters most?
We need a national debate on rare diseases

We were delighted to welcome the UK’s Minister for Innovation in Health, Baroness Nicola Blackwood, a passionate are disease advocate and the minister leading on the ‘National Conversation’ which will gather the views of all stakeholders to set the priorities for the UK Rare Disease Strategy 2020 framework. The Minister delivered a powerful and heartfelt talk drawing on her on experience of the diagnostic odyssey before being diagnosed with Ehlers Danlos Syndrome. Baroness Blackwood introduced the Hackathon Challenge, a cross sector team activity brainstorming their priorities for the new Strategy, inviting people to share their views. 

 

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Hackathon teams at RAREsummit19
© CRDN 2019

the RAREsummit hackathon

The final session of the day saw cross-sector teams thrash out ideas on problem areas in rare disease such as diagnosis, care coordination, research acceleration, early access and reimbursement and patient empowerment. Discussions were vibrant ad filled with knowledge and passion  culminating in five winning ideas being pitched to the whole audience. We were impressed with the far-reaching ideas the teams came up with and have gathered all of these, alongside all other suggestions made,  and will be presenting these as a report to the Minster in early December. Watch this space. … . 

 

Networking and Takeaways

As with all our events we see huge value in networking and we hope attendees found plenty of opportunities to  build on  established relationships and that doors were opened to new connections through this event. The rare disease community is a powerful one  and CRDN really felt this during this event.
While it by no means dominated the event the inevitable topic of Brexit rose its head and it was clear to see that this is already impacting our health service with shortages in health care professionals and a reduction in overseas talent both in health care and research applying to work here in the UK. Open collaboration was the call from the day and something patient groups want to see improve across industries.

A huge thank you to all who attended and to our sponsors, speaker and exhibitors! 

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…

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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.

 

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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.

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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.

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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.

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Cambridge Rare Disease Network - Findacure reflections on CRDN2017 summit. Re-imagining the Patient Journey. 21

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.

Suzanne Morris – the Vasculitis UK Cluedo Patient Journey poster creator

Suzanne Morris – the Vasculitis UK Cluedo Patient Journey poster creator

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This Blog article by Suzanne Morris, one of the creators of the Vasculitis UK patient journey poster, tells about her motivation for getting involved.

“Earlier this year, Cambridge Rare Disease Network put a call out for Patient Journey posters to be part of the 3rd Cambridge Rare Disease Summit (#CRDN2017) in October. They said, “Journey maps go beyond the static medical view of a condition by illustrating the patient experience, promoting emotional responses and empathy and providing a visually compelling story of the patients’ journey.”

Su’s full size Vasculitis UK poster, winner of the competition, can be seen here

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.

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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…

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.

 

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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:

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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

CRDN Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment

CRDN Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment

Tackling the rare disease conundrum with passion, innovation and investment

Article by Paul Tunnah, Pharmaphorum

Passion

The level of passion for making a difference among all those working in rare diseases is incredible, but it is no doubt led by the patients and their families themselves, each with their own unique story. But it is the ability for these individuals to truly empower themselves and cross the bridge from patient/carer to researcher, communicator and innovator that never ceases to amaze me. 

Take the example of Matt Might whose response to his son’s initially undiagnosed condition was to secure funding for his entire genome sequencing and identify a completely new rare disease cause by a mutation in the NGLY1 gene. Since then, he has built a global community (NGLY1.org), which has so far identified 39 patients around the world, accepted a Visiting Professorship at Harvard Medical School and is now actively leading the race to find a drug that can be used as an effective treatment.

His opening keynote set the tone for the entire day and his experience is reflective of many others who are taking the same proactive steps and not waiting for others to bring the medicine to them. Nick Sireau, one of the CRDN founders and Chairman of the AKU Society and Findacure, is another good example in the work he has done to identify a treatment for his two sons, who have alkaptonuria (AKU), also known as black bone disease.

Innovation comes in many forms, but drug development is at the core of it

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Professor Gregory Winter – Cam Uni and Cambridge Antibody Technology (right), Dr Tim Guilliams – Founder and Chair CRDN (left)

 Innovation

Such passion needs to be combined with innovation to help find solutions to the problems that rare disease patients and their families face. Innovation comes in many forms, but drug development is at the core of it and the Summit featured several notable scientific researchers sharing their experiences.

 Professor Sir Greg Winter, cofounder of Cambridge Antibody Technology and local to Cambridge as Master of Trinity College, explained the science of synthetic antibodies and their critical role in treating diseases where the genetic pathways are well understood, including their developing application in rare diseases. His current focus is on bicyclic small peptides, which could hold the same therapeutic potential as antibodies, while being able to permeate cells more easily owing to their small size and being cheaper to produce. A later speech by Professor Steve Jackson, also locally based with his work at The Gurdon Institute, presented equally dazzling science into the mechanisms of DNA-repair pathways. Although early application has been in cancer treatment (Jackson was a founder of KuDOS Pharmaceuticals, which developed olaparib and was later acquired by AstraZeneca), the potential is much broader and his work touches on rare diseases such as ataxia.

Innovation also comes in how the rare disease community is connected to help elevate disease awareness and aid in bringing such great science to patients. Eurordis, the ‘voice of rare disease patients in Europe’ has been at the forefront of activities here and clearly has ambitions to expand into a more global role. Denis Costello, RareConnect Project Leader, provided a sneak preview of what the new RareConnect.org information platform will look like, which appears to be very much like a Google for rare diseases, including translation into multiple languages. With launch anticipated in the next couple of months, watch this space!

Passion and innovation is impossible to translate into front-line treatment without sufficient funding

Investment

Innovation also comes in how the rare disease community is connected to help elevate disease awareness and aid in bringing such great science to patients. Eurordis, the ‘voice of rare disease patients in Europe’ has been at the forefront of activities here and clearly has ambitions to expand into a more global role. Denis Costello, RareConnect Project Leader, provided a sneak preview of what the new RareConnect.org information platform will look like, which appears to be very much like a Google for rare diseases, including translation into multiple languages. With launch anticipated in the next couple of months, watch this space!

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Herman Hauser – speaker 

 One topic for the day was the idea of ‘repurposing’ – taking existing drugs for more common conditions and securing approval for them to be used as a rare disease therapeutic. This has been a core focus for the work of the aforementioned champions like Matt Might, but more systematic initiatives are now underway with platforms like  www.cureaccelerator.org. Dr Bruce Bloom, President of Cures Within Reach, the organisation behind Cure Accelerator, also outlined how they are trying to work with the generics industry as a whole to support drug repurposing.

While charities such as MRC Technology are working tirelessly to help fund the transition from research to treatment and there is a sense that more funding is flowing in the direction of this area (something also covered by Professor Steve Jackson), there is a clear need to explore novel funding mechanisms. This was covered during an interesting session on ‘alternative funding strategies’, which included crowdfunding and the growing area of impact investing, where investment is made not just on the basis of expected return financially, but also what ethical impact the work will have. 

Could we see ‘social investment bonds’ help drive future rare disease research?

Paul Tunnah

Ultimately, it is clear that the involvement of commercial companies in rare diseases is critical to accelerate the race to find cures. Financial incentives are part of the solution here, but also needed is the realisation that a rare disease indication can provide a good ‘foothold’ for approval as a precursor to approval in a broader range of indications. In addition, the experience gained from working in the microcosm of rare diseases could also have much broader benefits, as personalised medicine holds the potential to ultimately segment common conditions into clusters of rare diseases.

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Professor Stephen Hawking provided a video keynote 

A closing video keynote from none other than Professor Stephen Hawking reminded us all of the importance of continued activity in tackling the challenges of rare diseases. Hawking, who was diagnosed at a young age with amyotrophic lateral sclerosis (ALS), a motor neurone disease, has defied the odds in staying alive, but how many brilliant minds have been lost too early under similar circumstances? I would challenge any health economist to calculate the benefits of investing in rare disease treatment in that context