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

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?

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 July 2019 by Baroness Nicola Blackwood (Parliamentary Under Secretary of State at the Department of Health and Social Care [DHSC].

The purpose was to gather the opinions of the rare disease community: patients; families; and professionals on the impact of the existing 2013 UK Rare Disease Strategy and to set priorities for the 2020 update.

 

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

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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 intense environment to really make people think what the most important priority is” 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 collectively reflect on what they had heard over the course of the day and use this, alongside their own experiences, to generate the priorities and come up with ideas to the solutions to solving these challenges.

Jo Balfour

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Below is a brief summary of each of the themes, including the winning priority for each theme and the overall winner. You can download and read the full Hackathon Report from our website. This report as created on a pro-bono basis by Cambridge based Med Comms company Costello Medical.

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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.

Unique Feet: Life may not be the party we’d hoped for …

Unique Feet: Life may not be the party we’d hoped for …

Unique Feet: Life may not be the party we’d hoped for …

but while we’re here

we should dance!

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In 2015, in response to an invitation to take part in a charity ball, CRDN took the step to create a small Cambridge based dance group for children with a range of rare conditions as a place where they could express themselves. Little did we know just how powerful this group would become, not only for the young people who take part,  but for the whole family. Human connections really are what makes the world go around and our Unique Feet are leading the way.

Since Oct 2017 we have been supported through funding from the People’s Health Trust and Health Lottery and in 2020 by Healx, local drug repurposing company for rare diseases, to build the group to 10 families. Twelve fabulous children and young people strong, we have branched out into all sorts of fun activities including horse riding, cycling, canoeing, yoga, climbing, trips to the seaside and picnics at National Trust parks. We annually go to the Panto and have family meals out allowing our children safe experiences they can share together, sometimes accompanied by extended family and siblings making for a true family affair. 

We spoke with a CRDN Trustees and Unique Feet members Sue Berry, Alison Omand-Lewis and Tracey Murray to find out more…

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I got involved when Jo Balfour (CRDN Ops Manager) contacted me, knowing my son had a rare genetic condition, with an idea to gather a group of similar children to dance at the SOBI Ball in Cambridge. My son agreed (even though he has huge coordination issues and was the only boy). We became one of the 4 original families involved. The children were all very different but really pulled together with their teachers to shine at their performance in April 2016. The children really got along and enjoyed each other’s company, as did the parents sitting chatting during rehearsals. 

 It’s been great to see the group grow since 2017 when we received grant support.

Both my son and I have found friendship, understanding and non-judgemental support. We have a like-minded group of families that, although all the children have different needs and strengths, understand the challenges that rare conditions can place on a family. Socialising and having others at the end of a phone allows confidence and self-esteem to be built, or we can just have a chat when it is needed. Eric has been able to try new activities and experience new challenges. Unique Feet has also allowed me to be educated and increase my knowledge about rare diseases and the complexity of how others have to deal with them.


My son is more confident and willing to try things that he would never have dreamt of doing. He is sociable within the group, in his own way, and looks forward to the meetups. He attends the Unique Feet ‘You Can Bike too’ sessions at Milton Country Park. Amazingly someone saw the photos on social media and contacted me……… after discussions they agreed to help fund a trike for Eric! We now regularly cycle as a family, something we were never able to do before which has been life-changing for us.


Now I am helping with organising, coordinating and facilitating family activities for Unique Feet both in the school holidays and during term time. These are usually fortnightly, although during rehearsals for performances it can be daily/weekly. There are also occasions when a family might need different support, for EHCP/education matters or general family support and I’m always happy to help out then too.

Alison Omand-Lewis

My daughter Eleanor was one of the first group of dancers that formed Unique Feet. The children were highly anxious at the beginning and we struggled to even get them into the room! However, by the end of the first session, a wonderful warm friendship had begun which has continued to blossom. The group is truly inclusive with everyone really having the opportunity to learn how to express themselves within their own abilities.


The big takeaway from this group, however, is the benefit to the whole family. We found the support from other parents an enormous help, especially during Eleanor’s transition to secondary school where we faced a big battle. Having other parents who had been through a similar process, guide us was invaluable.


It is wonderful to watch our young people forming friendships and supporting each other and being able to benefit from friends who see them for who they are and who don’t see the disabilities in one another.

Tracey Murray

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We got involved with Unique Feet around 18 months ago after Jo contacted me for probably the 10th time. Originally, I didn’t think the group was for us, but Jo is very persuasive, and we decided to come along to take part in the performance for RAREfest18. This is when we realised what else the group was involved with and all the amazing support it has to offer. My daughter Charlotte has really enjoyed the cycling and horse riding, but it has also been a great opportunity to be involved with other families in the local area.


The benefits go much further than just enjoying the dancing and activities, having that opportunity to connect with other mums and dads and boost moral or get advice is brilliant. When you spend a lot of time battling with schools or medical professionals you can run out of energy and the group have this ability to give you the courage to keep going. It gives you time to work through things and form a plan for moving forward.


There is also great sense of humour and banter and it is important to remind each other we aren’t just mums but are also working people, wives and of all the other things we are and to have that perspective so you don’t get caught up in only your child and their condition all of the time.


It is nice to have the regular and local aspect to it. It can be important to find others that have the same conditions to understand the disease more or its progression, but in reality, these families can be widely spread meaning regular interaction isn’t easy to achieve. This group is not about that. We want to be able to meet up regularly and do things with families local to us who understand our family.

Sue Berry

Now that our People’s Health Trust funding has come to an end, we have been organising fundraising activities and applying for new grants and we  will continue to offer activities and days out for the families. As the group has a wide age range, we will be spending time this year finding out what our young people want to achieve and may split the group to allow the older members the opportunity of more independent outings (although an adult will be close by). This could be the theatre/bowling/meals out etc. We feel that this is vital in helping them develop life skills and have the chance to do so in a group they are comfortable with.

More than fun activities and friendship!

Our Unique Feet group has grown to be an impressively empowered group of children, young people and parents. Over the last few years they’ve taken up opportunities to spread the word about rare disease and champion the unmet needs of those affected. Four families have told their story on BBC Look East, three have been featured in the Cambridge Independent newspaper, one appeared on BBC Cambridge Radio at a BBC Children in Need event and others have championed the cause through talking in school assembly and running fundraisers. Mum’s are actively involved in learning and networking by attending our educational events and conferences whilst two have become trustees, one of CRDN and the other of our spin-out organisation the Rare Disease Nurse Network. Allison now co-ordinates the Unique Feet group too. This is community involvement at its best!

Although some of our children are less mature than other teenagers, we are looking at ways that they can experience outings together with a degree of independence. They are such a lovely support for each other and help keep each other out of trouble.

Sue Berry

We also hope to be able to expand our educational programme, spreading the voice of rare disease within schools and the community.

I personally would like to be able to advocate for families who have a rare child, when they are in need of help with schooling/applying for an Education Health Care Plan.

Alison Omand-Lewis

One thing is clear that the benefits of Unique Feet go much further than an opportunity for young people to express themselves though dance. The holistic benefits to the wider family are just as important as is the opportunity for life-long friendships between the young people who take part.
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Bios

Tracey Murray is a trustee and part of the Rare Disease Nurse project. an organisation founded and spun out to independence by CRDN. As a qualified nurse Tracy brings invaluable experience to this project.

Joining the CRDN team as a trustee in July 2019 Sue Berry brings many years of product development for a leading retail brand as her background, supporting the development of our future focus and strategy.

Alison Omand-Lewis is one of the founding members of Unique Feet, now leading the coordination of the group activities. Alison is passionate about supporting families with the challenges of education and health care plans.

RARESummit 2019 – Patients as partners

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.

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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
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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 host a rare stage at Health Horizons, Cambridge

CRDN host a rare stage at Health Horizons, Cambridge

CRDN host a rare stage at Health Horizons, Cambridge

CRDN brings the RARE voice to major life sciences event

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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. 

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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 CRDN 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

CRDN Trustee

THE Presentations in a Nut-Shell

Professor Tim Cox – Professor of medicine and trustee of CRDN
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

RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

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

 RAREfest 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 CRDN 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. CRDN 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 CRDN, 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 CRDN 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, CRDN’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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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 CRDN 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 CRDN 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

Collaboration and Awareness Raising

  • 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

Findacure Cambridge Rare Disease Showcase

Findacure Cambridge Rare Disease Showcase

Findacure Cambridge Rare Disease Showcase

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

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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.

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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Rare disease nursing in Cambridge: a debate

Rare disease nursing in Cambridge: a debate

Rare disease nursing in Cambridge: a debate

.With 1 in 17 Britons born with or developing a rare disease, and with medical advances offering exciting new treatments to extend the lives of rare disease patients, we need innovative new options in holistic, patient-centred healthcare – such as rare disease specialist nurses.

Current care options for rare diseases put the burden on the patient to navigate multiple specialists, cover expensive travel and potentially spend long spells in hospital. This results in missed diagnoses, missed opportunities for treatment and leads to higher healthcare costs for patients and healthcare networks.
(more…)

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

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

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