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?

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

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 1

At CRDN 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 CRDN 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)

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 2

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?

 

Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 3
Cambridge Rare Disease Network - Cancelled! Postponed! How do we roar for rare in the midst of a crisis? 4

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, CRDN 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.

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

Meet two of the beating hearts behind CRDN

Meet two of the beating hearts behind CRDN

Meet two of the beating hearts behind CRDN

Cambridge Rare Disease Network - Meet two of the beating hearts behind CRDN 6

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

CRDN 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 CRDN.

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Being involved in CRDN has been fantastic! 

Dr. Sarah Leiter

CRDN 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 CRDN 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 CRDN, “…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.

Cambridge Rare Disease Network - Meet two of the beating hearts behind CRDN 8
 Sarah making DNA models at the CRDN Rare-i-tea party
on Rare Disease Day 2020

Sarah describes how through her work as a trustee at CRDN,  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.”

Cambridge Rare Disease Network - Meet two of the beating hearts behind CRDN 9

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 CRDN.

CRDN 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. CRDN 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 CRDN 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 CRDN. His experience in accounting and assessing business strategies also put him in good stead in the role of treasurer.

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

Ilan Chaitowitz

talks about why he joined CRDN

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 CRDN’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 CRDN 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.”

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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Cambridge Rare Disease Network - The Hackathon Challenge: Two hours, 252 opinions, one priority 12

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.

Pharma Market Europe Award Winners for RAREfest18!

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 (CRDN), 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 (CRDN) 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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CRDN’s ‘Unique Feet’ dancers at RAREfest18 @CRDN2018

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. 

Cambridge Rare Disease Network - CRDN host a rare stage at Health Horizons, Cambridge 16
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

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

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

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

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

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

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

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

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

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

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

Your DNA Your Say!

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

Solving the Unsolved

Dr Gemma Chandratillake (Course Director, ICE Genomic Medicine programme; Education and Training Lead, East of England Genomic Medicine Centre; Clinical Genomics Specialist, Cambridge Rare Disease Network Trustee)    @GemmaChand 
On 5 Dec 2018 Health Secretary Matt Hancock announced that the 100,000 Genomes Project had reached its goal of sequencing 100,000 whole genomes uncovering new diagnoses and improved treatments for patients with rare inherited diseases and cancer.
This marks the end of a chapter rather than the end of the story and earlier this year a new target was announced for the NHS to sequence one million genomes over the next 5 years. Will delivering genomic medicine in the NHS enable better outcomes for patients and contribute to a wealth of information to drive the treatments of the future?
Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 19

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

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

Everybody hurts sometimes … or do they?

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

Creative Reactions

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

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

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 20

 

 

Cambridge Rare Disease Network - Adam Pearson: Actor, TV presenter and campaigner speaking and exhibiting at #RAREFest18 21

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

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Cambridge Rare Disease Network - Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it 22

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.

 

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

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

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

Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 23
Dr Gemma Chandratillake, CRDN trustee, inspires the attendees with her patient-centric talk
The 150 participants with backgrounds in statistics, bioinformatics, genomics, medicine, design, entrepreneurship and patient advocacy listened to pitches from each of the challenge partners before making their way into teams with others interested in a particular challenge.

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

And the winners were…

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

Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 24
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 25
 
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 26
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 27
Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

People’s Health Trust grant makes a world of difference to our Unique Feet group

People’s Health Trust grant makes a world of difference to our Unique Feet group

People’s Health Trust grant makes a world of difference to our Unique Feet group

Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 28

In autumn 2017 we were delighted to be funded by a People’s Health Trust grant using money raised by Health Commit through the Health Lottery to help grow and develop our Unique Feet children’s activity group. People’s Health Trust is an independent charity funded by 51 local society lotteries and the money they raise through The Health Lottery and we are honoured to have received their support.

We’ve welcomed new members of all ages over the last few months and have been getting involved in all sorts of fun. The group began by meeting weekly for yoga sessions with Emily, our trusted Unique Feet supporter who has worked with us from it’s first steps in 2016.
Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 29

So why yoga?

As our poster explains, yoga helps children to develop greater body awareness, improves attention span, supports them to develop muscle tone, flexibility, circulation and lung capacity.

The health benefits are significant but benefits come also in their confidence and they learn new skills and surprise themselves at what they can achieve together.  Most of all they have a chance to meet together and have fun!

Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 30
The better weather has allowed the group to move on to outdoor activities now and they’ve been taking part in the weekly You Can Bike Too project. This is a brilliant award winning, all-ability cycling project delivered at Milton Country Park and the only project of its kind in Cambridge.

There are a wide range of bikes to suit individuals or groups which are great fun to try.  We’ve been trying out the colourful array of specially adapted bikes to help those with disabilities to take to their wheels and to support others to build confidence in riding.

Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 31
Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 32
Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 33
Siblings joined us for a Christmas Party, and for bouncing fun at xtreme 360 trampoline park at Easter and there are horse-riding lessons planned for the summer term.  So much fun to look forward too!

It’s wonderful to see friendships and community developing amongst our local families living with rare conditions who can often feel isolated. The group is a wide mix of children of different ages and all with different conditions.

Cambridge Rare Disease Network - People's Health Trust grant makes a world of difference to our Unique Feet group 34

Pint of Science Festival welcomes rare disease!

Pint of Science Festival welcomes rare disease!

Pint of Science Festival welcomes rare disease!

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

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

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

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

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

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

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

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

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

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

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

Treasure Your Exceptions

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

Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 37
Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 38

Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

Wellcome Genome Campus Lecture and Tour

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

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

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

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

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 39
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 40
It was interesting to hear how they were re-looking at those not diagnosed the first time round and getting more results
Sue

Pitt Hopkins UK

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

Action Duchenne

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

Unique Feet parent

What lessons were learnt from the DDD project?

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

Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 41
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 42
Cambridge Rare Disease Network - Wellcome Genome Campus Lecture and Tour 43

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