Rare diseases: Making the unseen seen

Rare diseases: Making the unseen seen

Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector
coalition of 30 UK-based experts involved in rare diseases.

Concerned at the impact of COVID-19 on those affected by rare diseases, three leaders replaced isolation with collaboration. The ARDEnt team was assembled by Dr Lucy McKay – CEO of Medics4RareDiseases, Jo Balfour – Managing Director of Cambridge Rare Disease Network and Rebecca Stewart – CEO of Rare Revolution Magazine, building an expert cross sector group; from patient advocacy professionals, data-managers, academics, healthcare and industry.

ARDEnt is united in their goal to bring benefit. By exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic, they hope to plan for a better response to future crises and improve the rare disease patient journey, post COVID-19. The team’s investigations illuminate examples of creative adaptability that could be utilised more widely in future. A report outlining findings and recommendations from ARDEnt’s ‘Making the Unseen Seen’ project will be shared with government in hope of influencing the UK Rare Disease Strategy 2020 creation and implementation.

Prolonging the ‘diagnostic odyssey’

Rare disease diagnosis is long and arduous, averaging over five years. Primary care’s one-problem-at-a-time and secondary care’s one-body-system-at-a-time approaches are rarely compatible with these complex diseases. Patients are bounced in a game of medical ping-pong between specialists until a someone looks holistically and takes charge.

75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.

With health services being stripped back as a response to the pandemic, the former status quo will potentially be more desirable than the ‘new normal’ for rare disease diagnosis. ARDEnt is examining how the pandemic has exacerbated the problem of diagnostic delay. Something we can ill afford when ~75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday. However, opportunities have also opened up because of the pandemic, such as reduced communication barriers between specialties and more information sharing. ARDEnt wants to harness these to change the outlook for rare diagnosis.

Confusion, cancellation, and silver linings for coordination of care

For patients with rare diseases, the pandemic brought anxious waits for confirmation of their risk level and shielding letters, followed by cancellation of vital services. Essential in-patient treatments, physiotherapy, day care and home care support were halted.

Additionally, the Coronavirus Act suspended legal duties to provide support for children with special educational needs and families of children with rare conditions found themselves grappling with home schooling and care needs alone.

As health, social care and education services begin to return to the “new normal”, ARDEnt are finding some services, vital to the wellbeing of families and patients affected by rare disease, facing delays and no clear directives for restarting.

Amidst the challenges there are opportunities. For those with Autism Spectrum Disorders, the slower pace of life and reduced crowds have been beneficial. Also, the overnight adoption of telemedicine has demonstrated its benefits and limitations for the future of healthcare.

Entering a new virtual reality

Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients who are, often few, widely spread and are running out of time with progressive diseases. ARDEnt’s investigations show that COVID-19 has further damaged a fragile system with research studies, clinical trials and drug development projects postponed or cancelled. But there is hope.

Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients.

Could new methods translate into more effective, efficient outcomes allowing for a continuation of services in a future crisis?

Remote signing of consent forms and remote audits: monitoring health through wearables; telehealth; deploying specialist nurses to collect bloods; and posting oral drugs – this pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. A precedent has been set and it is imperative these lessons are highlighted and adopted for the benefit of rare diseases.

 

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

Cambridge Rare Disease Network - RAREsolutions 2020: Change by Design - STEM poster Competition for young people 1
Hannah & Nicole, the winners of the RAREsolutions competition 2018 with Jonathan Milner

Enthusiasm, Curiosity, Initiative

Winners of RAREsolutions poster design competition 2018 share their insights for this year’s challenge!

If you take a sprinkle of artistic talent and a splash of passion for medicine and health, you have a winning formula for success! Nicole and Hannah pooled their talents to produce a brilliant entry for our first ever RAREsolutions STEM poster competition, impressing the judges with their creativity and determination for making a difference.

 

RAREsolutions20 poster design competition logo

RAREsolutions is a poster competition with a conscience, pushing for change by design. It’s part of the RAREfest20 rare -disease inspired festival and is open to anyone in Years 7-13.  All you have to do is watch the RAREsolutions challenge videos, pick the one that inspires you most, and go for it.

As we launch our new and exciting RAREsolutions 2020 STEM competition, let’s hear from the dynamic duo who scooped the prize last time.

Hannah & Nicole share their thoughts about the RAREsolutions design competition

Why did you enter the competition?

Hannah: We found out about the RAREsolutions poster competition in our school bulletin. I was immediately drawn to take part as it really struck a chord with me, having recently learnt about genetics in biology. I have a real passion for medicine and health! I knew instantly I wanted to take part with my friend Nicole, who is really good at art and design. Combining our talents and being able to work collaboratively really appealed to us. It’s not often we get to work as a team!

What inspired your design?

Nicole: The first steps was to decide which challenge we wanted to design a poster for. On the CamRARE website there were three different challenges set from people with rare conditions. They asked us to create innovative solutions to help them live more independent lives.

Hannah: The one that really resonated with us came from Eilidh. The quest to make playtime more fun and accessible. Eilidh has KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. This can impair or alter growth and development of the brain and central nervous system.

What research did you do?

Nicole: We had a few weeks to research the condition, contact Vaila (Eilidh’s Mum), find a solution and design the poster. It was amazing to take part in a project that combined science, research skills and design.

Hannah: RAREsolutions was not dry like the usual essay writing competitions and gave us the change to come up with a real-world solution. Life can throw up all sorts of accessibility challenges for those living with sensory and physical disabilities, but actually they are people just like you and me. They want to live life to the full, but the environment makes that tough.

I’d recommend taking part in this competition to anyone. It not only helps patients with rare diseases live better lives, but also changes your own life!

Hannah

Winners of the RAREsolution 2018 competition

You presented your winning idea at RAREfest18. How did that feel?

Nicole: We were hugely proud of our achievement but also daunted at the idea of presenting to an audience of genetic experts, having only previously made presentations at school!

Hannah: It really helped having each other for support. We put together a presentation and also produced a tri-fold leaflet. It was a fantastic opportunity to stand up in front of an audience of people from the rare disease community, ranging from genetic scientists to patients and their families. It was an incredible experience!

How has this competition changed your lives?

Nicole: It has really inspired me to find out more about how rare disease affects patients, not only the biology aspect also the social implications and how people can be marginalised. Taking part in the competition gave me more confidence and led me to focus on eugenics for my Year 12 project.

Hannah: On the day itself, we met some great people and made some really useful contacts for the future. I found myself having a conversation with someone from the Stem Cell Institute, which prompted the subject for my Year 12 research project about stem cell treatment and therapies for Type 1 Diabetes.

The RAREfest20 RAREsolutions poster competition is now LIVE!

RAREfest20 logo

RAREsolutions poster competition is part of RAREfest20, a vital, vibrant, virtual festival that champions the rare disease community, bringing together the brightest scientific minds, the most innovative tech, the medical pioneers and, of course, the patients, who are as unique as the festival itself.

Cancelled! Postponed! How do we roar for rare in the midst of a crisis?

Cancelled! Postponed! How do we roar for rare in the midst of a crisis?

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At CamRARE our focus is on raising awareness and building networks to address the unmet needs of those affected by rare disease and the professionals that work with them.  So how do organisations like ours maintain momentum during this extended period of lockdown?  

We create original and inspiring events, we collaborate with other engagement teams to drive rare disease onto mainstream  agendas to reach wider audiences, we attend and exhibit at others’ events and help promote these. The world of rare is used to operating in challenging circumstances but none more so than right now.

In recent days we have all found ourselves in the midst of a global pandemic with COVID-19,  a virus to which we have no immunity, having an unprecedented impact on health systems, businesses and on the way we live our lives, both locally and on a  global scale.

In order to slow the infection transmission rate and avoid overwhelming our health services, we are experiencing a seismic shift in our ability to travel freely with many parts of the world  imposing restrictions and bans.  As a direct result we are seeing large numbers of events being postponed and cancelled.  The impact on the rare disease community’s opportunities for sharing research and breakthroughs in drug development, for patients and their advocates to have a voice and for networking and collaborations to be made, cannot be underestimated.

 

vent ORGANISERS FEELING THE PINCH

In addition to the lost opportunities for sharing and networking, charities and organisations like ours, for whom events are their bread and butter, are just some of the many being hit hard by the huge financial burden of mass cancellations. Very few event organisers will have had insurance for communicable diseases and will be left to foot the bill for lost deposits and reimbursing speaker’s and attendee’s travel and accommodation costs. Of course the impact stretches way beyond the organisers with local communities also losing out to loss of footfall and many small businesses, from printers, designers, catering and AV hire to security firms, feeling the pinch.

At CamRARE we have recently had the cancellation of the RCPCH Conference and exhibition 2020 where we were excited to be hosting a half-day symposium with fellow rare disease champions BPSU, Medics 4 Rare Diseases, Findacure and Rare Revolution Magazine. Dr Richard Lynn from the BPSU is disappointed but remains optimistic:

It is with great sadness that the first official collaborative event between our five organisations has been cancelled due to the COVID-19 pandemic. It is clear from the interest the event was generating along with the speed and willingness of speakers to sign up, that there is an appetite for such events aimed at paediatric trainees. Watch this space – the collaboration goes on.

Dr Richard Lynn, BPSU (British Paediatric Survelliance Unit)

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Day-by-day we are being given new directives by the UK government, bracing ourselves for the next set of restrictions, trying to pre-empt and plan to best protect our delegates, employees and society as a whole. Factor in that we work within the rare disease community, a group that is classed as a high-risk and particularly vulnerable to the coronavirus, this is a hugely important time for us to review how we can continue to raise awareness and build networks whilst social distancing and self-isolation is being advocated and implemented to protect us.

IS THIS CRISIS THE CATALYST WE NEED TO DELIVER TRULY ACCESSIBLE EVENTS?

The rare disease community can find travel problematic at the best of times:  the expense incurred; the time it takes up;  difficulties with managing a condition and medication when travelling; issues with mobility and accessibility.  In a fair and accessible world we would be offering everyone an equally do-able pathway to take part in our event, whether in person on virtually.

Could this current crisis be the catalyst we needed to make events better for all and to reach a far wider audience than is physically able to attend?  Rather than traditional face-to-face conferences and classrooms for learning, will we hold more events via social media channels, live stream conferences and give those attending from home or work the technology to engage meaningfully?  Will MOOCs (Massive Open Online Courses) become even more popular  and online learning platforms replace the classroom?

At our last two summits we have made some inroads into engaging an audience outside of the lecture theatre by allowing people to attend via Glisser technology and take part in the Q+A. We even tried out No Isolation’s AV1 avatar allowing a parent advocate to attend from Scotland through a robot perched on stage. It all went swimmingly well until the robot began to heckle the speaker! There is certian appetite for change and this feels to us like an opportunity to do better for our patients and to be more flexible in our offerings.

THe Meaning of “grasp the nettle” in English

is to force yourself to be brave and do something that is difficult or unpleasant.

In most organisations and charities there is never enough time or resources to do everything we know we should do, so we prioritise.  Perhaps the current lockdown will provide some breathing space to refocus some of our awareness raising efforts and invest in those aspects of our work which we’ve been putting off?

Social distancing means people are spending more time in their homes with many feeling isolated and turning to digital platforms to keep in touch and stay informed. This could be a great time to invest in your digital marketing campaigns and raise awareness through these channels.

Online learning platforms

Findacure, a Cambridge-based rare disease charity are leading the way with their e-learning portal, a central hub of information and training for rare disease advocates and patient groups. Here they host educational materials including animated videos, webinars and written guides. Perhaps there is more we could all be doing to provide high quality educational experiences on online platforms?

 

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Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 5

virtual conferences the future?

In recent years there has been an increasing presence of virtual events and the COVID-19 health crisis has spurred a number of organisations to adapt and move their conference online rather than cancel.  Two brilliant examples are the EyeforPharma 3 day event which was due to take place in Barcelona last week and Eurordis’s ECRD event taking place mid May (check out our events calendar for registration details).  As rare disease teams are contemplating next steps, will they grasp this opportunity to look to the future and decide to move more events online to improve accessibility and reduce their financial risk?

 

In May, CamRARE was due to run rare disease expert talks as part of the international  Pint of Science festival. This has been rearranged for early September, but if this proves impossible, perhaps we could move to Glisser Live,  an enterprise software service solution engaging with audiences, gathering data from live and virtual events and pushing out events live to mobile devices?

Other such as Eden Lord, Founder of My City Med and parent of a child with a rare condition, is already ahead of the crowd.  My City Med is an online health and medical site but they also run a growing and successful online event, Rare Fair, a truly inclusive event for the rare disease community which is entirely virtual and draws in rare patients, caregivers, advocates, non-profits, healthcare professionals, researchers and other stakeholders from around th world.  Eden also facilitates other non-profits to host their own virtual conferences through My City Med Events and we’ll be taking  a demo of the platform so as to be as prepared to take our own flagship event, RAREfest20, online on Nov 27 and 28th if needed. 

 

FUNDRAISING ONLINE

As well as cancelled events, charities are also feeling the pressure of missed opportunities to fundraise with events like the London Marathon cancelled. Virtual fundraising events such as online quizzes are gaining popularity with companies enabling charities and supporters to schedule fully hosted online events which can be played virtually from the comfort of peoples’ homes.

In these incredibly challenging times, it is important that we adapt to the changing environment protecting and looking after our rare community and that we continue to raise awareness and create stimulating  ways to stay connected, now more than ever.

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Meet two of the beating hearts behind CamRARE

Meet two of the beating hearts behind CamRARE

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For third sector organisations, trustees are the beating hearts behind the scenes sharing ultimate responsibility for governance and direction. 

CamRARE is proud to have such a talented board at its helm and  we caught up with two of our Trustees, Dr Sarah Leiter and Ilan Chaitowitz, who each bring their individual skills and insight to the charity, to find out more about what attracted them to the role, what they hope to bring to the charity an their hopes for the future of CamRARE.

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Being involved in CamRARE has been fantastic! 

Dr. Sarah Leiter

CamRARE Trustee – Dr Sarah Leiter

Sarah was born and raised in Germany before moving to the UK where she studied medicine at the University of Cambridge. Sarah explains, “I first got involved with CamRARE at on of their rare disease lectures in 2017.”

At the time she was studying at medical school and was in the process of launching a student rare disease society. Sarah not only has a personal connection, she is a rare disease patient herself, but also as a scientist and medical doctor this combination has further piqued her interest and she offers a uniquely broad perspective. Sarah says of being a trustee at CamRARE, “…when I was asked to join the board it seemed like the perfect opportunity to get more involved!”

Sarah’s passion and enthusiasm to help people is one of the driving forces behind her becoming a trustee. Living with a rare disease, Sarah can bring her own experiences and insight, understanding first-hand the frustrations that patients and their families can experience. In addition, having completed her PhD studies on a rare syndrome,  Sarah also understands how research is carried out. Now a young medical doctor based at Addenbrookes Hospital in Cambridge she aspires to pursue a career in medical genetics.

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 Sarah making DNA models at the CamRARE Rare-i-tea party
on Rare Disease Day 2020

Sarah describes how through her work as a trustee at CamRARE,  she has had the opportunity to learn a lot more about the industry around rare diseases and be part of some fascinating collaborative projects. As a trustee Sarah has had the chance to meet regularly with others involved in the rare disease community, further inspiring her to continue with her medical and scientific career.

Sarah’s hope for the future is to see the network grow and flourish,  engaging more individuals, organisations and companies from across different sectors to work together to improve the lives of those affected by rare conditions. She strongly believes, “It’s not all about a cure but life more broadly.”

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Trustee & TREASURER – Ilan Chaitowitz

Ilan, our newest trustee, joined the charity at the end of 2019 as Treasurer.  Ilan has over 20 years of experience in the finance industry and it was this experience and the passion to spend his spare time, “in the pursuit of others’ wellbeing,” that led him to become a trustee at CamRARE.

CamRARE appealed to Ilan because, “It seeks to champion the causes of those most in need – the majority are children often with severe disabilities and terminal illnesses. There are usually no treatments and, given the small populations, weak incentives for governments or industry to develop them. CamRARE attempts to address these issues through local meetings and activities, public awareness and stakeholder networking events.”

Ilan admires the other trustees’ energy and dedication and hopes to bring this same level of commitment that the others already do, “Their tireless effort has seen CamRARE grow from nothing to a real presence in the UK’s rare disease landscape that has touched many lives already.”

Having been involved in the healthcare sector from a corporate perspective throughout his career, Ilan will use this experience and his familiarity with corporate developments on rare disease to drive fundraising efforts for CamRARE. His experience in accounting and assessing business strategies also put him in good stead in the role of treasurer.

It (CamRARE) seeks to champion the causes of those most in need

Ilan Chaitowitz

talks about why he joined CamRARE

First and foremost, Ilan hopes that in his role as a trustee he will earn a sense of accomplishment and make a positive impact on the lives of others. Having spent his career in the world of finance, by contrast, he was raised in a family of carers and doctors. He feels that one thing he has missed out on is the reward of helping others in an immediate and personal way and as a trustee, he intends to fulfil this.

Ilan thinks that the rare disease landscape is at a pivotal point and goes on to explain that “it is incredibly interesting with new scientific tools showing some early promise; gene editing, machine learning and single-batch drug manufacturing. I have also never acted as Trustee in a charity, so look forward to working with others with very different backgrounds to myself to take the charity to the next level.”

Ilan is still new to the role but is already looking ahead to CamRARE’s future.  His initial focus is to understand the activities and finances in greater detail. He hopes to further strengthen the organisation’s financial foundation which will facilitate even more creative and mid-term planning.

Ilan is already impressed by how well CamRARE is doing and the path that it is on. He explains that he wants to, “continue the current range of activities and then broaden them to impact more lives to an even greater extent, in a sustainable way, I would consider that a job well done.”

Pharma Market Europe Award Winners for RAREfest18!

Pharma Market Europe Award Winners for RAREfest18!

We are feeling very humbled and proud to have learnt today that Cambridge Rare Disease Network (CamRARE), with the support of med comms company Havas Life Medicom, were awarded winners of a ‘Judges Special Recognition Award’ at the Pharma Market Europe Awards #PMEA2019 last night.

The impressive achievements in pharmaceutical marketing excellence were recognised at the annual PMEAs at the Royal Lancaster London Hotel, with the exciting introduction of a new award for 2019. 

The annual PMEAs, now in its 19th year, had its highest number of entries yet, with the largest range of companies entering the competition in almost two decades. This was reflected in the number of attendees at the event, with an impressive 430+ industry professionals present on the night.

Keynote Speaker Mark Ormrod, an ex-Royal Marine, Invictus Games competitor and author, kicked off the night with a moving and inspiring view of his life since being injured. The main awards ceremony was hosted by broadcaster and presenter Fergus Walsh, who caught everyone’s attention with images of his brain scans!

There were a total of 15 categories this year – the entry criteria and categories are reviewed each year to reflect the ongoing changes in the dynamic healthcare landscape. In addition to the main categories, there was also a surprise award this year, The Judges’ Special Recognition Award, which reflected the impressively high standards of the entries received. 

It is wonderful to see a small charity such as ours being recognised with a Judges Special Recognition Award for our RAREfest18 arre disease inspired festival at such a prestigious event.

This year, the judges decided that they wanted to recognise two particular entries that stood out as interesting, fresh and different. Both these entries had great merit beyond the criteria for the categories in which they were entered. They both demonstrated breakthrough thinking and facilitate hope for future care. The two winners of this impressive award were Cambridge Rare Disease Network and Havas Life Medicom for their entry RAREfest, and King’s College London and Four Health for the GLAD I Took Part campaign.”

Dr Paul Stuart-Kregor, PMEA chair of judges 

We hope this inspires others to see that with creativity, self-belief, passion, probono support and sponsorship from companies, and a huge team effort, we can all achieve great things for those affected by hashtag#RareDisease This award is for all of those who took part – the Cambridge Rare Disease Network (CamRARE) and Havas Life Medicom teams, Suzanne Morris, Lindsey Brown, Kay Parkinson, Natalie Electra Karaminas, our Unique Feet children’s group and their families, our speakers, exhibitors, volunteers, film-makers, schools poster competition entrants and artists.

#teamwork #partnership

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RARESummit 2019 – Patients as partners

RARESummit 2019 – Patients as partners

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.

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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

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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 19

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.

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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! 

2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

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 23
Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 24

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma ChandratillakeCamRARE 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 25

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 26

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 27

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 28

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 29

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

RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 31

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" 33
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Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 41
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 42

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

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

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

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 43

 

 

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 44

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

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Cambridge Rare Disease Network - Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it 45

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.

 

Raising awareness about rare diseases

Raising awareness about rare diseases

A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a conference 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 conference 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.

Screenprinting for RAREfest & Unique Feet

Screenprinting for 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 
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First colour done, 3 to go 
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Second and third colours having been added 
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9 RAREfest logos ready to be used