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

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

by | Feb 13, 2020 | Events, Collaboration, Summit

Too many cooks or the perfect recipe for success?

and  and ideaas and innovate Important to every CamRARE 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 CamRARE’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

Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 2
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

 

Watch the film of teams pitching their ideas

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 CamRARE 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.

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RARESummit 2019 – Patients as partners

RARESummit 2019 – Patients as partners

by | Oct 7, 2019 | Artificial Intelligence, Community, Drugs and pharmaceuticals, Events, Healthcare, Patient Groups, Raising awareness, Research, Summit, Technology, Treatments

Wellcome Genome Campus hosts CamRARE 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 CamRARE RAREsummit19. 

For the team at CamRARE, 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
© CamRARE 2019

Opening remarks

 Dr. Jonathan Milner, CamRARE 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 CamRARE, 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

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 6
Alastair Kent
© CamRARE 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
© CamRARE 2019
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Dr. Nick Sireau
© CamRARE 2019

Moderated Discussion
Disruptive technologies  

Dr Tim Gulliams (Founder of CamRARE, 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
© CamRARE 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
© CamRARE 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
© CamRARE 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

CamRARE Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake
© CamRARE 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
© CamRARE 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.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 14
Baroness Nicola Blackwood at RAREsummit19
© CamRARE 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
© CamRARE 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 CamRARE 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! 

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CamRARE host rare stage at Innovation Forum Health Horizons

CamRARE host rare stage at Innovation Forum Health Horizons

by | Jul 5, 2019 | Artificial Intelligence, Drugs and pharmaceuticals, Events, Healthcare, Patient Groups, Technology, Treatments

CamRARE brings the RARE voice to major life sciences event

Cambridge Rare Disease Network - CamRARE host rare stage at Innovation Forum Health Horizons 16

Cambridge Biotech week,  25th – 28th of June 2019,  was a brand new festival of events launched by the Global Innovation Forum designed to accelerate scientific ideas and support investment and growth for companies in the field of life sciences.

Events took place  across Cambridge and included the Health Horizons Future Healthcare Forum,  the Milner Therapeutics Symposium, Digital Disruptors, Scaling up Success in Biotech hosted by One Nucleus and the Hong Kong Biotech Roadshow.  As part of the two day Health Horizons Forum, Cambridge Rare Disease Network were honoured to host  ‘Rare Disease Innovation and Collaboration’ at Corpus Christi College. 

Cambridge Rare Disease Network - CamRARE host rare stage at Innovation Forum Health Horizons 17
From left to right – Prof Tim Cox, Dr Rick Thompson, Patricia Durao-Lewi, Dr Tim Guilliams

Health Horizons is a high calibre, two-day conference focusing on the future of the healthcare industry. Over 100 hard-hitting speakers gathered to address this challenge and share their thoughts with a global audience. The Cambridge Independent shared their “Five things we learned at Health Horizons” summing up that “it’s all about being interdisciplinary”, “research needs to be translated”, “scientific co-creation can follow from serendipity” and “open innovation can accelerate progress”. Needless to say we were delighted to bring the conversation around to the development of treatments and cures for rare diseases and promote the patient voice as essential to these interdisciplinary and collaborative approaches.

As with all of our events, it’s great to have a broad range of stakeholders in attendance. A global audience of patient groups and rare disease advocates, industry, healthcare, research and technology professionals were in attendance to benefit from the thought-provoking presentations of our four speakers who are at the heart of innovative breakthroughs in therapies and technology.  Delegates were able to share in their expertise in co-creating innovative solutions to some of rare disease’s most challenging healthcare issues. Presentations and Q+A were followed by a lively panel discussion moderated by CamRARE Trustee Prof. Tim Cox.

The race to introduce new medicines, provide healthcare and stimulate investment often misses the point for patients at the centre of our network… Strong, forward-looking talks from all the speakers showed what can be achieved in true partnership – and how. Put simply: different means for each party needs to be understood if the common goal is to be achieved.

Professor Tim Cox

CamRARE Trustee

THE Presentations in a Nut-Shell

Professor Tim Cox – Professor of medicine and trustee of CamRARE
What is it to be rare?

From the diagnostic odyssey still faced by patients with rare diseases to the rise of drug buyers clubs, Professor Cox discussed the current climate and how his belief in human connections and collaborative and combined thoughts and effort will have the greatest potential for solving the biggest challenges in rare disease drug development. Tim spoke with a passion and empathy which comes from many years of working closely with affected patients, their families and with patient groups.

 

Dr Tim Gulliams – CEO and Co-Founder of Healx
Drug repurposing for rare diseases: patient group partnerships at the heart of AI

Dr Tim Guilliams spoke passionately about the importance of collaborating with patient groups and how invaluable this has been in their work in drug repurposing. Tim described some of the huge leaps forward that the Cambridge-based start up company has made using AI and big data to find drug-repurposing options for 100 rare diseases by 2025. But his message was clear, that their partnerships with patient groups who can share their lived experience are vital to their success.

 

Patricia Durao-Lewi – Co-Founder of CATS Foundation
Patient organisations driving research: collaboration is the key

An inspirational presentation showing the sheer power of a united patient community. From being told they would never meet another Tay-Sachs patient to hosting their sixth European family conference and the creation of the European Tay-Sachs and Sandhoff Charity Consortium Patricia demonstrated how collaboration with other Tay-Sachs patient groups globally and a firm partnership with Prof Tim Cox and his team has allowed them to create a powerful and united narrative for Tay-Sachs and Sandhoff disease. Their purposeful and focussed collaborative approach has resulted in a comprehensive patient registry, successful funding bids and a promising research pipeline with clinical trial dates set for 2019 and 2020.

I would hope that my talk helped delegates understand that rare disease must be tackled from all angles. This means including patient organisations so that they can work together with pharma and researchers as a more powerful team.

Patricia Durao-Lewi

CATS Foundation

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CamRARE teams up with Findacure to bring a sip of RARE to Pint of Science Festival

CamRARE teams up with Findacure to bring a sip of RARE to Pint of Science Festival

by | Apr 3, 2019 | Community, Events, Genomics, Research

Cambridge Rare Disease Network - CamRARE teams up with Findacure to bring a sip of RARE to Pint of Science Festival 18

For the second consecutive year, CamRARE is hosting 2 rare disease themed evenings for the Pint of Science Festival. We’ll be based at the Panton Arms in Cambridge on 21 and 22 May inspiring the general public to be curious about the science and research taking place locally into rare diseases.

We’re excited to have teamed up with local rare disease charity Findacure to bring you a great selection of speakers undertaking research, delivering education programmes and raising awareness about rare disease.

“Effectively communicating science and linking it to the ‘real world’ has important benefits for both scientists and society” POS

Our speakers will explore the potential for rare disease research to help us better understand and treat more common diseases and learn about the plans for rolling out the technology and lessons learned from the 100,000 Genomes Project into the NHS.

Join in our pub quiz to win a POS pint glass and test out your own pain threshold…!

The scientists have paired with local artists who’ve created an artistic interpretation of the science. Artworks will be presented by the artist following each talk and be on display at the Creative Reactions event on 24 & 25 May at St.Barnabas Church, Cambridge 

21 May, Panton Arms, Cambridge – The Genomic Revolution: Finding a Cure for the 1 in 17

Click for tickets

Cambridge Rare Disease Network - CamRARE teams up with Findacure to bring a sip of RARE to Pint of Science Festival 19

Your DNA Your Say!

Dr Anna Middleton (Head of Society and Ethics Research, Wellcome Genome Campus)  ‎@Genomethics 
Big Data and DNA now go hand in hand. This is pivotal for exploring the link between genes and disease. The bigger the datasets the better. Most DNA data is ‘de-identified’, i.e. names and addresses have been removed but it will soon be possible to identify a person from their DNA alone. Would this stop you donating your DNA data for research? What harms can come from this? We explore what public across the world have said and how their views are shaping policy.

Solving the Unsolved

Dr Gemma Chandratillake (Course Director, ICE Genomic Medicine programme; Education and Training Lead, East of England Genomic Medicine Centre; Clinical Genomics Specialist, Cambridge Rare Disease Network Trustee)    @GemmaChand 
On 5 Dec 2018 Health Secretary Matt Hancock announced that the 100,000 Genomes Project had reached its goal of sequencing 100,000 whole genomes uncovering new diagnoses and improved treatments for patients with rare inherited diseases and cancer.
This marks the end of a chapter rather than the end of the story and earlier this year a new target was announced for the NHS to sequence one million genomes over the next 5 years. Will delivering genomic medicine in the NHS enable better outcomes for patients and contribute to a wealth of information to drive the treatments of the future?

22 May, Panton Arms, Cambridge – Researching the Rare to Understand and Treat the Common

Sold Out

Cambridge Rare Disease Network - CamRARE teams up with Findacure to bring a sip of RARE to Pint of Science Festival 20

Can we turn back the clock on rare premature ageing diseases?

Dr Delphine Larrieu (Group Leader at Cambridge Institute of Medical Research) 
Rare genetic premature ageing syndromes called progeria trigger the appearance of ageing signs in early childhood causing many changes to the body over time, including heart disease, bone changes, hair loss, joint and skin changes, and early death around 14 years old. Unfortunately, there is no current cure and therapies just improve the symptoms. Hear how Delphine’s team is tackling this and suggesting new treatments and how the lab’s work could also open up new perspectives into improving normal age-related pathologies.

Everybody hurts sometimes … or do they?

Dr Mike Nahorski (Cambridge Institute for Medical Research) 
Chronic pain is a debilitating condition that affects 14 million people in England alone. But scientists think the have come a step closer to understanding it – by studying a rare group of people with congenital insensitivity to pain, who feel no pain at all. Cambridge University researchers have identified a faulty gene that seems to switch pain off in some people and it is hoped the discovery could lead to new treatments for those who live with pain every day.

Creative Reactions

Elizabeth Fraser  (Printmaking/graphic design) 
Eri Ikuno (Illustrator) 
Eithne Fisher (Painting/drawing) 
Kate Grant  
(Medicine/resin/acrylic/printmaking) 
As part of the Creative Reactions project, these artists will be presenting their artwork inspired by the research of speakers in this talk series. The artwork will also be on display at our Creative Reactions Exhibition at St Barnabas Church, 24 – 25 May.

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2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

by | Mar 1, 2019 | Community, Events, Healthcare, Raising awareness, Rare Disease Day, Research

Put over 150 passionate and motivated people together to talk about rare disease research and you can expect a fascinating evening. 

That’s just what happened at the recent public evening, hosted by Cambridge Rare Disease Network in collaboration with the NIHR BioResource for Translational Research at Addenbrooke’s Hospital to mark International Rare Disease Day 2019.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 21
Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 22

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma Chandratillake, CamRARE Trustee (pictured left)

Full agenda and biographies from the day. Click on the links below to view the audio and presentation slides for each talk.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 23

Welcome Address
Prof. Patrick Chinnery
NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 24

Improving Patient Health in CNO and SAPHO
Dr. Jagtar Singh Nijar
NIHR Clinical Lecturer in Rheumatology, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 25

Whole Genome Sequencing for susceptibility to infectious disease
Dr. James Thaventhiran
Consultant Clinical Immunologist, University of Cambridge (slides and audio not available)

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 26

Next Generation Children Project – Rapid Genome Sequencing for critically ill children
Dr. Isabelle Delon  Clinical Scientist, EMEE Genomic Laboratory

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 27

Imaging in the diagnosis of Rare Diseases
Dr. Tomasz Matys
University Lecturer and Honorary Consultant in Radiology, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 28

Closing Address
Dr. Nathalie Kingston
NIHR BioResource Director

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RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

by | Jan 11, 2019 | Activities, Community, Events, Med tech, Patient Groups, Raising awareness, RAREfest, Research, Technology

Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 29

Heartwarming, uplifting and informative, RAREfest18, the world’s first-ever festival on rare diseases drew huge crowds to the Guildhall over the weekend of November 30 & December 1.

 RAREfest18 was the first of its kind; a rare disease inspired festival, created and delivered by Cambridge Rare Disease Network, bringing passionate and inspirational people together to change the rare disease landscape for the better.

The event set out to raise awareness, share information and dispel some of the myths about rare diseases and the plight of those living with them. Rare diseases affect around 3.5 million people in the UK. Despite this, rare diseases are not consistently diagnosed, treated or supported, effectively and knowledge amongst health care professionals, educators, social care and the public is limited. The need for a powerful emotive programme was identified; speakers, exhibitors and performers at RAREfest had one goal in mind: change the rare disease landscape. Annual summits and events by CamRARE have consistently been milestone events in the rare disease community but bringing a rare disease event to an already invested community has a certain security. This time we wanted to tackle the more challenging issue of public perception of rare disease.

RAREfest was to be our most ambitious event to date!

This year’s unique RAREfest event was created for the public, in part due to the disparity between actual facts and public awareness of rare diseases. For example, while research has shown that only 38% of people think rare diseases have no treatment, in reality this figure is 95%. The aim of the festival was to bring about meaningful and positive change in as many ways as possible for the rare disease community – from raising broader awareness and promoting understanding, to providing practical support. Over two free days, RAREfest provided a stimulating mix of science, technology and the arts, with motivational speakers from academia, industry, the media and all importantly, patient advocates.

The educational programme was enriched with interactive exhibits, demos and film, all public-facing, promoting inclusivity to widely raise the profile of rare disease. CamRARE created a platform from which the rare disease community itself was in charge of their own narrative with which to educate and engage a public audience.  Read the glittering review from Cambridge independent newspaper here https://www.cambridgeindependent.co.uk/news/rarefest-brings-life-sciences-to-guildhall-9056317/

Friday night launch event

On the evening of 30th November 2018 over 200 attendees listened attentively as Alastair Kent, OBE, former Chairman of CamRARE, opened the world’s first rare disease festival with a poignant observation:

“A few years ago, it would not have been possible to have filled a hall like this (Cambridge Guildhall)”

Attendees were subtly educated whilst being entertained during AbbiBrown’s presentation, Growing up with a Galapagos Tortoise: and other funny stories. Abbi, a founding member of CamRARE who, by her own admission left Cambridge University with two degrees and wheelchair, explained what life had been like for her growing up with osteogenesis imperfecta (Brittle Bones) relaying stories of her time as cox for her college rowing team.

Adam Pearson, award winning campaigner, actor and presenter and sculptress Dagmar Bennett talked about the process of creating Adam’s life size bust to raise awareness about Neurofibromatosis, a rare genetic disorder that causes tumours to form on nerve tissue, and to champion face equality.

We are bombarded every day by media images of how we should look, for people with disfigurement it can be absolutely paralysing

Adam Pearson

The audience were captivated by an enchanting dance performance from Unique Feet, CamRARE’s local community group of 10 children, each with a different rare disease, and the talented classical musician James Risdon who gave a mesmerising recorder performance. James lives with a rare eye disease, Leber’s Congenital Amaurosis, and learns all his repertoire through braille.

The evening ended with an awe-inspiring talk by Michael McGrath who led polar expeditions to both North and South poles to raise awareness of Muscular Dystrophy, a degenerative disease which has led to Michael himself being the proud owner of a technical masterpiece of a power chair to enable him to take on such challenges and be as independent as possible. Michael’s work through The Muscle Help Foundation ensures children affected by muscular dystrophy can experience life changing adventures of their own.

The evening was a resounding success, bringing together a diverse public audience mixed with rare disease advocates to walk in the shoes of those living with rare conditions through humour, dance, music and inspiring presentations. Read the Cambridge Independent news coverage of the event here.

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Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 31
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 32
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 33
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 34
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 35
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 36
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Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 38
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 39
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 40

Saturday’s Roundup

Saturday saw around 800 curious people weaving their way through the Guildhall to engage with all that RAREfest had to offer. Families with small children, teenagers who’d taken part in the CamRARE RAREsolutions design competition, local students, health professionals and business representatives alongside a tribe of rare disease patients and advocates from across the UK.

Nine incredible speakers enthralled audiences. Dan Jeffries told the colourful story of life with not one, but two rare diseases, Acromegaly and Wyburn-Mason Syndrome. Rebecca Pender shared a heart-breaking account of her struggle to persuade medical professionals believe her accounts of her daughter’s illness, a rare chromosome deletion and duplication syndrome called 8p. The Cambridge Independent captured the power of Rebecca’s story here. Dr Crystal Ruff, a scientist from Illumina delivered a fascinating talk on changing the future with stem cells, a TED talk she has had thousands of hits on, Prof Anna Middleton from the Wellcome Genome Campus tackled the ethical considerations of ownership of DNA data playing on the topical story of the announcement only 2 days before of the Chinese scientist who had gene-edited twins. Read more about her talk in this newspaper article here.

Film Festival
Over 25 charities and research organisations entered our very first film festival gathering over 3500 upvotes between them and the highest scoring fourteen being shown on a big screen over the Saturday.

Exhibitors
Twenty-two interactive exhibits took over the Guildhall bringing rare disease inspired cool technology, arts and science to the public. With demos of robots and technology, fun science experiments, sculpture exhibits and rare disease charities showcasing some of the amazing work they do, the diverse audience was treated to a packed day of hands on activities to help educate and inspire.

Networking
There were many opportunities throughout both events to network with peers. The post RAREfest VIP reception drew together eighty leaders from science, healthcare, technology, business, charity and philanthropy to network with exhibitors, speakers and the CamRARE team. Dame Mary Archer, a fierce advocate for a Cambridge Children’s Hospital, Julian Rayner, Director of the Wellcome Genome Campus and Daniel Zeichner our Cambridge MP attended, to name a few.

So how did we do?
After the dust has settled and we are now and truly well into the count down for RAREsummit we wanted to look back and digest the impact of our very first public facing event. 

 

Here are some stats from RAREfest 2018

RAREfest in Numbers

  • Four new industry partners joined our Companies Forum for biotech, pharmaceutical and related industry partners
  • 25% increase in Twitter followers
  • 8000 people reached via Facebook event
  • 11 newspaper and magazine feature articles
  • 1 TV feature
  • 1 Radio Feature

The event was absolutely fantastic. It was obvious how much hard work had gone into it and gaining the balance between industry and public interest must have been a tough navigation, which was pulled off unbelievably well.

Steve Smith

Head of Rare Diseases & Gene Therapy

Lots of people we’ve spoken to today are passers-by. They’re out doing their Christmas shopping. That’s wonderful because it means the topic is broadening out to the wider community.

Harriet Gridley

Head of business development UK at No Isolation

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Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18

Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18

by | Nov 9, 2018 | Events, Front page news, Raising awareness, RAREfest

Breaking news!! RAREfest18, which already had an amazing line-up, just got even better…

Adam Pearson and Dagmar Bennett in conversation will talk us through their collaboration to create this wonderful sculpture of Adam. Their talk will be part of the #RAREfest18 launch evening alongside other rare speakers, musicians and dancers. 

Adam Pearson is an Actor (most recently ‘Under the Skin’*), TV producer, Grierson Presenter of the Year Nominee 2016 and winner 2017, public speaker and campaigner against stigma towards people with a visible facial difference.

Adam has Neurofibromatosis Type 1, a rare genetic condition that causes excess body tissue to grow predominantly on his face.

The artist Dagmar Bennett created a hyper realistic sculpture of Adam, and through the tactile processes of this sculpture has allowed people to explore Adam’s personality and outlook on life.

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 41

 

 

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 42

Dagmar will be exhibiting her sculpture of Adam and discussing the process, purpose and impact of this work. She thrives on celebrating differences between people, making art to stimulate thought on the social norms presented to us every day. Her sculpture of Adam Pearson was created to help promote people with a disfigurement or disability being valued as equal. Her traditional sculpting methods in clay are entwined in a strong belief that skill and technique are especially important to an artist being able to portray ideas and concepts fully. Dagmar also believes that art can be a powerful tool to change perceptions; as Gunther von Hagens said – “The breaking of taboos sometimes is the price demanded by creativity.”

Meet Adam and Dagmar on Saturday 1 Dec at the RAREfest exhibition at the Guildhall 11am – 4pm. Tickets can be booked via this link: https://rarefest1dec2018.eventbrite.co.uk

After hearing his story, and developing a friendship with Adam I felt inspired by his positive attitude, bravery and determination to break down barriers regarding how people with a disfigurement are viewed and treated. In my portrait, I was determined to capture these qualities and show him as an individual.

Dagmar Bennett

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Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

by | Sep 20, 2018 | Drugs and pharmaceuticals, Events, Guest posts, Healthcare, Raising awareness, RAREfest, Treatments, Uncategorized

Cambridge Rare Disease Network - Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it 43

This year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

September 20, 2018 – article in Pharmaphorum written by Richard Staines  https://pharmaphorum.com/views-analysis-patients/awareness-rare-diseases/

“A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a festival encouraging joined-up thinking to help improve treatments, care and services for people with rare diseases. pharmaphorum spoke to her ahead of RAREfest18 to find out more.

On November 30th and December 1st this year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

Although rare diseases are classed as something that affects less than one in 2,000 people, it’s not that uncommon to have a rare disease. Around one in 17 people are affected by a rare disease, and about 80% of the 6,000 – 8,000 known rare diseases are genetically derived.

That’s why Kay Parkinson, who lost two children to the ultra-rare disease Alstrom Syndrome, is trying to bring influencers together at RAREfest18 – as interactions between people from a range of different backgrounds could prove to be game-changing in the world of rare disease treatments.

In an interview with pharmaphorum, Parkinson gave an example from personal experience – when she was attending a rare disease conference she met the CEO of the Canadian pharma company Prometic.

This chance conversation resulted Prometic trialling its PBI-4050, also used in idiopathic pulmonary fibrosis and other diseases involving scarring, in Alstrom’s Syndrome.

Encouraging data from a UK-based open-label phase 2 trial of PBI-4050 in Alstrom’s Syndrome were presented at the International Liver Congress, and the European Association for the Study of the Liver, earlier this year.

There is now talk of expanding the trial to other countries, and in order to encourage this kind of lateral thinking, Parkinson launched the first RAREfest in 2015.

Parkinson said: “When I started a charity we were warned off pharma, but they turned into our greatest allies.”

The event has already attracted speakers including the late professor Stephen Hawking who had the rare disease amyotrophic lateral sclerosis, biotech entrepreneur Dr Andy Richards, and Dr Segolene Ayme, emeritus director of research at the French Institute of Health and Medical Research (INSERM).

The goal for Parkinson is to take people out of their “siloes” and thinking creatively, and to raise awareness about rare diseases among the general public.

She said: “Much of the information and summits are very siloed. You see the same people all the time. We wanted to reach the general public.”

“We felt that there was not a nucleus place for the pharma industry to show what it is achieving, and charities to show what they need.”

Improving awareness

While Parkinson is full of praise for the way pharma has supported rare disease patients, she says that there is a pressing need for more awareness amongst doctors

While specialisation in the medical profession can help with more common diseases, Parkinson says clinicians often struggle to look at patients in a holistic manner and fail to spot that a group of different symptoms are caused by a rare disease.

For example, Alstrom Syndrome is characterised by retinal degeneration, nystagmus (wobbly eyes), sensitivity to light, loss of hearing, obesity and insulin resistance.

But other features may include kidney and liver dysfunction, type 2 diabetes, fatty substances in the blood, poor cardiac function, and bladder and bowel problems.

Symptoms may develop at different stages and not everyone is affected by all of them, and even amongst siblings the symptoms can vary.

It would be easy for a clinician to treat any one of these symptoms – but to look at them together and make a correct diagnosis of Alstrom’s Syndrome is much more challenging.

This proved to be an issue while she was trying to get a diagnosis for her children, Matthew and Charlotte, who sadly died in their twenties as a result of the disease.

Parkinson said: “The individual components were diagnosed. They [clinicians] did not pick up heart disease, nobody put it all together. An eye specialist is not going to look at hearing loss. The whole thinking for rare disease needs to change.”

Patients with rare diseases are more likely to try and interact directly with pharma, or an expert in the field to try and find answers, she added.

“For rare diseases, you can’t pin your hopes on doctors, you pin your hopes on somebody developing something that’s not even there,” said Parkinson.

Rewriting the code

With so many rare diseases caused by faults in the genetic code, there is hope that technology like CRISPR offer the potential to treat the underlying cause of the disease, rewriting a patient’s genetic code to produce a cure.

There are already gene therapies on the market that use different techniques to overcome genetic diseases.

Parkinson hopes that these could lead to treatments for diseases such as Alstrom’s Syndrome but is realistic about the speed of progress.

“I hope it (CRISPR) may become an acceptable treatment. Costs will be involved, and a lot will depend on the funds going into it.”

“There will be lots of barriers to overcome. There are going to be great upsets before there are real breakthroughs. They don’t act like other diseases.”

“We have to remain hopeful as there are so few alternatives, I think huge challenges are still there as when you start intervening in humans it may take time to fully realise the implications.”

In the short term, Parkinson is hoping to drum up support, both financially and from increased awareness, for RAREfest.

While some of the events organised are based on arts and culture, Parkinson hopes they will foster an all-important dialogue between patients, doctors, pharma and wider society to help find new treatments or cures and improve care.

With organisations such as EURORDIS, the European umbrella group for a range of rare disease patient groups, and the Genetic Alliance working in a similar role at a national level in the UK, Parkinson is optimistic that progress will be made.

“Rare diseases are moving up the agenda, at least people are talking about them,” Parkinson said.

 

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Screenprinting for RAREfest & Unique Feet

Screenprinting for RAREfest & Unique Feet

by | Jul 31, 2018 | Events, Raising awareness, RAREfest, Unique Feet

The RAREfest logo comes to life…

Our Graphic Designer has been to summer school, learning to screenprint at Cottenham Village college under the tuition of Ricki Outis – local textile and community artist.

The set up was not commercial so everything was done in a way that was possible to set up at home in a garage, or on a kitchen table, and where all masks and templates are made with paper.

The RAREfest logo offered the perfect opportunity to try out the process of printing with multiple colours and needing to get the registration of all 4 colours as close to each other as possible.

So she cut out four masks, one for each colour, mixed in ink to match the RAREfest colours and away she went – hoping that the logos would work well enough to be useful.

We’re really pleased with the results and are excited to see what she makes for our Unique Feet group…

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After the first mask is removed 
Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 45
First colour done, 3 to go 
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Second and third colours having been added 
Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 47
9 RAREfest logos ready to be used

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Findacure Cambridge Rare Disease Showcase

Findacure Cambridge Rare Disease Showcase

by | Jul 21, 2018 | Activities, Community, Events

Findacure’s Annual Cambridge rare disease Showcase is back on 16th August.

Cambridge Rare Disease Network - Findacure Cambridge Rare Disease Showcase 48
Findacure are also looking for daring individuals to take on their infamous five-minute lightning talk challenge. If you have an exciting project to announce, a personal rare disease experience, or a unique approach to rare disease research, why not share it at their event? Calls for lightning talks are open until Friday 27th July and can be submitted during registration.

Tickets are available now by visiting www.findacure.org.uk/cambridge-showcase and attendance is free to patients, patient groups and charities.

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CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack

CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack

by | Jul 7, 2018 | Artificial Intelligence, Events, Genomics, Med tech, Raising awareness, Technology, Uncategorized

Some of the CamRARE team joined 150 participants at the Wellcome genome campus BioData Hackathon on 2-3 July. 

Focused on finding novel ways to use biological data to improve healthcare, teams had 2 days to design, develop and present their solutions. CamRARE played a pivotal role in setting the scene for the 2-days as trustee Dr Gemma Chandratillake took to the stage to deliver a presentation reminding participants about the utility of a diagnosis for those undiagnosed and living with rare conditions and the value of patient-centred, cross-sector working with an open approach to sharing research and data.

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Dr Gemma Chandratillake, CamRARE trustee, inspires the attendees with her patient-centric talk
The 150 participants with backgrounds in statistics, bioinformatics, genomics, medicine, design, entrepreneurship and patient advocacy listened to pitches from each of the challenge partners before making their way into teams with others interested in a particular challenge.

Jo, our events and communications manager, mentored a team working on a Microsoft challenge. The challenge was to create a system for a clinical trial for phase 3 oncology patients around the person’s home. The 4 teams working on this challenge all brought a variety of skills and creativity to the task and  very much reflected on the patient at the centre of the challenge.  The winning team designed an all inclusive box which allowed video calls with healthcare professionals,  had an integral digital pill dispenser and a section to collect require samples for collection.

And the winners were…

Simon Hazelwood-Smith was one of the winning team in the drug-repurposing challenge set by Open Targets. You can read his blog post here about how their idea was inspired by Gemma’s talk.

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Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 51
 
Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 52
Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 53
Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

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Pint of Science Festival welcomes rare disease!

Pint of Science Festival welcomes rare disease!

by | May 20, 2018 | Activities, Community, Events, Healthcare, Raising awareness, Research

CamRARE hosts a rare disease themed pub for the annual international pint of science festival…

Pint of Science is a non-profit organisation that brings some of the most brilliant scientists to your local pub to discuss their latest research and findings with you.

In 2012 Dr Michael Motskin and Dr Praveen Paul were two research scientists at Imperial College London. They began by organising an event called ‘Meet the Researchers’. It brought people affected by Parkinson’s, Alzheimer’s, motor neurone disease and multiple sclerosis into their labs to show them the kind of research they do. It was inspirational for all involved.

They thought “if people want to come into labs to meet scientists, why not bring the scientists out to the people?” And so Pint of Science was born.

In May 2013 they held the first 3-day festival in Cambridge, London and Oxford.

Our events manager, Jo Balfour, co-hosted the Cambridge Neuroscience pub that first year in collaboration with Dr Hannah Critchlow, author of Ladybird Expert Series book, Consciousness.

Pint of Science quickly took off around the world and now happens in nearly 300 cities covering all manner of scientific topics.

We were delighted to be given the opportunity to host a rare disease themed pub in Cambridge during the festival!

“Why not bring the scientists to the people?” 

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Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 55
Taking a break from the science, speakers Dr Lucy Raymond, Dr Jagtar Singh Nijjar and PhD student Patrick Short help the winning team show off their gummy bear DNA bases model 

The chance to host a pub, at an international festival with 19,500 twitter & 21,000 facebook followers, helped us put rare firmly on the menu

We hosted two evenings at Cambridge’s trendy drinking hole, Thirsty.  Both nights were sold out and we packed into their back room to hear about exciting research into rare disease taking place on our doorstep and personal stories of living with rare disease. Our speakers ranged from well know Cambridge rare disease expert Dr Lucy Raymond to emerging shining light, PhD student Patrick Short.  A huge thank you to all of their speakers for their fascinating talks, their personal stories and for getting involved in the fun.

For the full line up, speaker bios and talk synopses click on the links below.

Treasure Your Exceptions

Rare Disease: The Genomic Revolution, Searching for Cure for the 1 in 17

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Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 57

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