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MHRA Proposal for Accelerating Rare Disease Treatments

MHRA Proposal for Accelerating Rare Disease Treatments

by | Jul 9, 2026 | Drugs and pharmaceuticals, Healthcare, Med tech, Patient experience, Policy, Research, Treatments

Join CamRARE online on 15 July, to delve into the detail of the MHRA’s proposed new framework, designed to help accelerate treatments and therapies for rare conditions.

Morning (10:00) Workshop
Lunchtime (12:00) Workshop
Evening (20:00) Workshop

A New Framework for Accelerating Rare Disease Treatments

The traditional method for developing medicines requires a large number of people to take part in clinical trials.  This process just doesn’t work for most rare conditions, where there are few patients with each condition. As a result, only 5%, of the 10,000 rare conditions that we currently know of, have an approved treatment.

The MHRA (Medicines and Healthcare Products Regulatory Agency) is the government body who approve new treatments and therapies in the UK, and in order to address the challenge that developers have in gathering enough evidence to approve new treatments for rare conditions, they have drafted a new framework designed to help create a more appropriate process for conditions with smaller numbers of people. 

The Big Idea: The Investigational Marketing Authorisation (IMA)

At the heart of their proposal is a new type of approval called the IMA. Currently, running a clinical trial and getting permission to supply a medicine are two separate, often long, steps. The IMA combines them into one process.

Under this new route, a promising treatment can be given to patients and studied at the same time. Instead of waiting years for a final “yes” or “no,” the MHRA will review the evidence continuously. This means people could access life-changing therapies much earlier, while regulators keep a close watch on safety and effectiveness.

Patients as Partners

One of the most important parts of this framework is that patients are treated as partners, not an afterthought. This means:

  • Ongoing Consent: Your agreement to take part is treated as a continuous conversation, not just a single signature. As new information about a treatment’s risks or benefits emerges, you are kept informed.
  • Your Priorities Matter: When judging if a treatment works, the MHRA will look at whether a therapy impacts your quality of life and personal experience, not just lab results.
  • Direct Involvement: Patient organisations will be involved throughout the entire process.

Is “Faster” Safe?

The MHRA emphasises that faster access will not mean lower standards. Because evidence is still being gathered while you use the medicine, safety will be watched the entire time.

Every treatment will have a Clinical Monitoring Plan to track how well it works and catch any issues quickly. If the evidence eventually shows the treatment isn’t safe or effective, the MHRA can restrict or withdraw it immediately.

Treatments entering the IMA process will also be subject to independent ethics reviews, as they would be under a traditional clinical trial, to ensure patients are protected and treated fairly.

Gathering Evidence Differently

Because rare disease patient groups are small, the MHRA will use “flexible” evidence. This includes real-world evidence (data from your everyday medical care) and smart computer models to assess if a medicine works, without needing thousands of trial participants.

What comes after the IMA (Investigational Marketing Authorisation)?

Approval is only the first step; you also need to be able to access the medicine through the NHS. The MHRA is planning to work closely with NICE (National Institute for Health and Care Excellence) and NHS England to ensure that once a medicine is approved, the funding and rollout happen smoothly.

Read MHRA's Draft Framework

How you can help

This framework is currently a draft, and the MHRA wants to hear from you! 

The document is quite a heavy read, so CamRARE are holding a workshop on 15 July to delve in and ask some of the big questions:

  • Does it protect patients well enough?
  • Is consent meaningful and genuinely ongoing?
  • Will access to treatments really be faster?
  • Is the safety monitoring strong enough to reassure you?

The workshop will run at 3 different times throughout the day (morning, lunchtime or evening) where we’ll look through the main priorities and challenges addressed in the framework, ask the big questions and hear from each other about our thoughts.

CamRARE will be submitting a group response to the MHRA consultation based on the feedback we gather at the workshops, but remember you can also submit a response from your organisation, patient group or your personal perspective. The more feedback the better to make the guidance the best it can be!

Image of a laptop with a photo of medicines and text about the workshop repeated in the blog post

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Progress, Potential & Challenges in Gene Therapy: Companies Forum Insights

Progress, Potential & Challenges in Gene Therapy: Companies Forum Insights

by | Apr 24, 2026 | Collaboration, Companies Forum, Drugs and pharmaceuticals, Genomics, Healthcare, Med tech, Patient experience, Raising awareness, Treatments

At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.

Reflections from CamRARE’s most recent Companies Forum discussion bringing together science, systems, and lived experience.

Gene therapy is often described in bold terms: transformational, even curative. But what does that really mean in practice?

Our speakers from across industry, advocacy, and patient communities explored this question from multiple angles. What emerged was a nuanced picture of extraordinary scientific progress and complex real world challenges.

Photo of Companies Forum attendees sitting in rows looking attentively at a presentation

A Transformational Idea meets Real-World Complexity

Gene therapy has been widely described as revolutionary. Since the breakthrough genome editing work of Emmanuelle Charpentier and Jennifer Doudna in 2012, the field has advanced rapidly, arriving at this exciting, yet complicated, frontier that more and more therapies are beginning to reach: moving from research into real-world care.

For rare diseases especially, gene therapy represents a shift from managing symptoms to addressing underlying causes. In some cases these therapies translate into life-changing outcomes that were just not possible before.

However alongside that promise is the complicated reality of uneven access, complex delivery and time critical windows of opportunity.

Two Paths, One Goal

Gene therapies typically follow one of two approaches:

  • In vivo: delivering genetic material directly into the body
  • Ex vivo: modifying a patient’s cells outside the body, then reinfusing them

In vivo approaches can be delivered more quickly, however are not bespoke, while ex vivo therapies are completely personalised, but involve complex manufacturing that can take weeks or months, time that is often critical for successful treatment outcomes.

Using metachromatic leukodystrophy (MLD) as a case study, which has a gene therapy available on the NHS, it was highlighted that only a handful of patients have received it. The reason is not scientific limitation, but timing of diagnosis and therefore access. 

Although patients have been diagnosed since the therapy has become available, only a small proportion were eligible for treatment as the others had progressed beyond the point where gene therapy could help them.

Beyond this time challenge, lie some further issues, including: the logistics of complex manufacturing, the burden of travel to a limited number of treatment centres, long-term follow-up requirements, and high upfront costs. 

Orchard Therapeutics presentation at Companies Forum

From Approval to Access: The Hidden Journey

Another challenge highlighted was the long process of approval to patient access.

After regulatory approval, treatments must go through health technology assessments (such as those by National Institute for Health and Care Excellence), funding decisions, and implementation planning. This process can take years and after all that, access still isn’t guaranteed.

The Patient Perspective: Hope, Hesitation, and Hard Choices

From the outside, gene therapy can sound like an obvious choice. But for patients, the decision is rarely straightforward.

Taking haemophilia as an example, uptake of gene therapy has been more cautious than expected.  Individuals find themselves carefully weighing up:

  • The possibility of reducing or eliminating ongoing treatment
  • Uncertainty about long-term safety and durability
  • The irreversible nature of the therapy
  • The burden of intensive follow-up

Community and historical context matters too. In the haemophilia community a clear link is seen where experiences from the contaminated blood scandal shape perceptions of risk and trust.

In some disease spaces, gene therapy is not the only option. It may sit within an already evolving treatment landscape, where existing therapies significantly improve quality of life and therefore uptake is not a given.

Navigating Early Access

For patients who cannot access clinical trials, early or “expanded” access to investigational therapies can be a lifeline, however it also raises difficult ethical and practical questions:

  • Is there enough evidence to justify the risk?
  • Are healthcare systems ready to deliver the treatment safely?
  • How do we ensure fairness across patient populations?

Following extensive consultation, and in collaboration with clinicians and patient groups, Bionical Emas have developed a decision-making framework. 

A key insight from the development process being that assumptions from clinician and research do not always align with the actual views of the patient community. While patient groups were expected to strongly favour early access, many actually emphasised caution, recognising the risks involved.

The framework therefore brings together multiple considerations: risk–benefit balance, clinical readiness, logistics, regulatory context, and timing. Perhaps most importantly, the process is iterative, and allows for decisions to be revisited as new evidence emerges.

This reflects a shift, moving from reactive, ad hoc decisions towards more structured and transparent approaches, centering the patient community’s view.

Slide about MLD gene therapy access shown at Companies Forum

Newborn Screening

A key issue that cut across the meeting, was that early diagnosis is pivotal.

For conditions like MLD (metachromatic leukodystrophy), two very different realities exist. Those diagnosed early, often accessing testing because of an affected older sibling, may receive treatment and go on to live relatively typical lives, while those diagnosed later face rapid disease progression, intensive care needs, and significantly shortened life expectancy.

This stark contrast extends beyond clinical outcomes. A late diagnosis places enormous emotional, practical, and financial strain on families, on top of the added care burden, and cost to healthcare systems, and (possibly preventable) loss of a loved one.

Newborn screening has the potential to change this, by identifying conditions early enough to enable timely treatment, and transform long-term outcomes.

Yet increased access to newborn screening in the UK has been slow, and MLD and some other conditions where treatments are now available, have not yet been added to newborn screening programmes despite the massive difference it could make to those affected. 

The message in this meeting was clear: in many instances, the barrier is not scientific capability, but system readiness.

A central theme running throughout the discussion was the gap between rapid scientific progress and the slower pace of system change.

Final Reflections: Bridging the Gap

Gene therapy is advancing quickly, but access remains inconsistent. For many families, it is still not a real option.

Bridging this gap will require more than innovation. It will depend on aligning science with policy, infrastructure, and lived experience, ensuring that breakthroughs translate into meaningful, equitable impact.

Join the Conversation: RAREsummit26

These challenges are not something that any one sector can solve alone, and conversations like this are only the beginning.

RAREsummit26 will bring together voices from across the rare disease ecosystem to continue exploring these critical issues, from innovation and access, to policy and patient experience.

📅 7 October 2026
 📍 Wellcome Genome Campus or Online

Whether you work in healthcare, research, industry, advocacy or live with a rare condition, your voice matters.

Learn more, get involved, and be part of the conversation shaping the future of rare disease care.

Rare Summit promotional graphic, an array of triangles
RAREsummit26 Tickets

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Data, Digital Tech and the People Behind the Numbers: Insights from Companies Forum

Data, Digital Tech and the People Behind the Numbers: Insights from Companies Forum

by | Jan 19, 2026 | Artificial Intelligence, Collaboration, Companies Forum, Med tech, Patient experience, Raising awareness, Research, Technology

At CamRARE, we believe that real progress in rare diseases happens when we break down silos and build bridges. That’s the purpose of Companies Forum – a trusted space where leaders connect to challenge assumptions, share insights, and co-create bold solutions.

In December, CamRARE hosted a Companies Forum meeting on the Cambridge Biomedical Campus, to explore a question that is rapidly reshaping rare disease medicine: how can patient data and digital technology unlock better evidence, fairer access to treatment, and a more empathetic experience for families?

A hot topic as the MHRA recently published a position paper (November 2025) setting out a more flexible, data-driven approach to regulation. 

As CamRARE’s Managing Director Jo Balfour reflected in her opening remarks, we are now at a point in time where “data could, in theory, be collected all day, every day, all year round” and the pace of change and potential flexibility in regulatory the approach is quite exciting.

Companies Forum meeting with Jo presenting the agenda slide

But this meeting was clear: The challenge is not primarily technical. It is human. The central questions for the day were simple but profound: 

  • What kinds of data and digital technologies are being used? 
  • How are they being used? 
  • And crucially, what is the experience for the person or family contributing that data?

If it doesn’t work for the people it’s designed for, they’re not going to engage and if we are going to ask patients for data, “do it once and do it well.”

From Metrics to Meaning

That principle came vividly to life in a powerful presentation from Josie Godfrey, Strategic Director of Duchenne UK’s Project HERCULES.

Companies Forum meeting taken from the side of the room, with the speaker and slides visible

Josie described the reality of traditional clinical trials: long-distance travel every few weeks, time away from home, school and work, layered on top of the daily demands of a progressive condition. Anything that reduces this burden, she said, while better reflecting real life, “has got to be good.”

She challenged the adequacy of standard outcome measures, particularly the six-minute walk test. “Every time I saw it, my heart would sink,” she said. A number on a page tells families very little. What matters is whether a child can walk into a classroom, visit a grandparent, or go to the shop.

In those with Duchenne, Josie highlighted a critical transition stage that is often invisible in the literature: the point at which a child can no longer weight-bear. “The key thing is not that you stop walking,” she explained. “It’s that you stop weight bearing.” That shift has a much more profound impact on independence, care needs and costs, than becoming a wheelchair user, yet it is rarely captured.

Digital approaches offer the possibility of seeing what traditional measures miss: subtle changes in posture, movement and compensation; the things people can still do, not only the things they can no longer do. They can reflect the reality of life, rather than an abstract score from a clinical environment.

But Josie also shared a hard lesson. Early pilot work that required parents to use smartphone video to capture movement over time allowed for documenting subtle changes, however the emotional impact of being faced with such a visual comparison was too painful for families to see, and the study was halted.

Even the most well-intentioned digital innovation can cause harm. Parents and patients are often asked to “go to a very dark place” to generate evidence. Technology must reduce burden, not add to it.

Digital measures can enable smaller, faster, more inclusive trials, Josie concluded – but only if they are designed to protect the wellbeing of the families participating.

When Families Become Innovators

That human drive to “do something” was embodied in the story of James Oakley of Keep Me Breathing.

James’ son has a condition that causes him to stop breathing, requiring constant vigilance. Faced with this reality, James decided to create a solution.

Working with innovative product designer, Duncan from 7TH Design, they developed a device to monitor his son’s breathing.

What began as a response to one family’s need now has applications far beyond that single condition, including respiratory care and even sports performance. It is a powerful reminder that some of the most transformative ideas in healthcare begin not in laboratories, but in family homes in the middle of the night.

Watch James and Duncan’s video below:

Can Wearables Change the System?

Ashley Enstone and Alisa Chowdhary from Adelphi Values PROVE explored what it will take for digital and wearable technologies to be accepted, not only in trials, but by health technology assessment (HTA) bodies such as NICE.

Wearables are already part of daily life. In healthcare, continuous glucose monitoring has transformed diabetes care, reducing mental burden for both patients and carers. In Duchenne Muscular Dystrophy, Stride Velocity, a wearable capturing how people move in real life rather than in a clinic corridor, has progressed from regulatory qualification to primary endpoint status in just a few years.

Yet wider adoption remains slow. Building confidence in new tech takes time, evidence and education. 

Some examples of challenges that were identified in their study included: the variation in tech literacy (owning a device does not mean being able to use it confidently); many commercial devices are less accurate for people of colour and those with higher body mass, risking bias and mistrust; and cost remains a major obstacle. Those who could benefit most often have the least ability to pay.

A group member described the reality of continuous glucose monitoring: £50 every two weeks, device failures, and the emotional blow of reverting to finger-prick testing. Even “well-established wearables… are not foolproof.”

This creates a paradox. To secure funding and reimbursement, data is needed across all populations. But to collect that data, funding is required. 

In rare disease especially, the group agreed that imperfect data is often better than no data at all, as long as the limitations are transparent.

Above all, patients need confidence that their effort will matter. If data “isn’t going to get traction with regulators,” families are “wasting very valuable energy.”

Companies Forum meeting speaker Richard

Behaviour as a New Vital Sign

Professor Richard Festenstein of Imperial College London offered a glimpse of what the future could look like.

Through his work on Friedreich’s Ataxia, Richard’s team developed compounds that reverse ‘epigenetic silencing’ – a symptom of this condition, where genes are too tightly packed to be accessible, so are essentially ‘switched off’, and in the case of Friedreich’s Ataxia, it means the body cannot make enough frataxin, a protein essential for nerve and muscle function. After treatment, patients reported changes that transformed daily life:

“I can talk on the phone.”
“I can sit up unaided.”
“I can grab a cup of water.”

However traditional clinical scales failed to capture these effects. “What we do at the moment is very crude,” Richard said.

So, working with Professor Aldo Faisal, Richard has been trialing a more precise, nuanced way to capture real-world patient experiences through repurposing motion-capture technology used in the movies (BBC article). Patients wear sensor suits in simulated domestic environments, and simpler devices at home, to 3-D record every day activities in a more relaxed environment.  Machine learning analyses thousands of features of the movements captured.

The results are striking.

  • Movement data predicts clinical scales better than the scales predict themselves. 
  • Trials can be smaller and faster. 
  • Disease progression can be detected earlier. 
  • Non-ambulatory patients – often excluded from traditional studies – can be included.

In one example, frataxin levels in blood could be predicted from how a person with Friedreich’s Ataxia moves, where clinical scales showed no relationship. The study shows the potential for each patient to be mapped within a multidimensional “disease space,” with an “individualised fingerprint.”

Richard’s company, Ethomix, aims to integrate behavioural data with genomics, imaging and electronic health records. Behaviour, he suggested, is a “missing vital sign.”

A Shared Responsibility

Across the day, one message rang clear: no single stakeholder “owns” this space. Progress depends on partnership between patients, families, researchers, regulators, technology companies and industry. The challenge is not the absence of data, but its fragmentation. As one participant observed, “There is data – it’s just not in the same place.”

Digital innovation in rare disease is not just about wearables, algorithms or endpoints. It is about dignity, trust and the promise that when families give their time, energy and stories, those contributions will be honoured.

This is not simply a data revolution. It is an opportunity to build a system that sees people, not just numbers – and to ensure that technology serves the lives it seeks to measure.

An array of Companies Forum member logos as of July 2025

Join the Conversation

Be heard, influence the future. Help build what comes next by joining the CamRARE Companies Forum. 

Have a look at our webpage for more information and to download the latest Membership Prospectus.

More about Companies Forum

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Breathing Life Into Existing Technology – Highlights from RAREsummit25

Breathing Life Into Existing Technology – Highlights from RAREsummit25

by | Nov 19, 2025 | Collaboration, Events, Med tech, Patient experience, RAREsummit, RAREsummit25, Technology

How a Father, a Designer, and a Bold Idea Are Changing the Future

This powerful presentation followed two insightful panel discussions at #RAREsummit25, firstly exploring the power of collaboration and secondly showcasing a selection of patient led research ideas. It set the stage perfectly for James Oakley and Duncan Foster Fitzsimons to share their own remarkable story of innovation, perseverance, and patient-led problem-solving.

Photo of James and Duncan on stage with a slide showing the vento wearable device in the background

When James Oakley’s son Casper falls asleep, he stops breathing.

That’s the reality of Congenital Central Hypoventilation Syndrome (CCHS) – a lifelong, life-threatening rare condition where the nervous system is unable to control breathing and oxygen levels. Those with CCHS don’t sense rising CO₂ and are unable to adjust their breathing. Families are often told their lives will be limited: no travelling, no freedom, constant vigilance.

James and his family refused to accept that.

Within a week of Casper’s diagnosis, they decided to do something, not just to help their son, but to push the entire field forward. What followed has been a journey of grit, creativity, and relentless problem-solving.

Finding the right people, and not taking “no” for an answer

James started with what he jokingly calls his “crime map” – a mind-map of everyone and everything that might help. He politely, persistently pursued world-leading specialists until they agreed to support his mission. The geneticist who discovered the CCHS gene is now on his advisory board. A journalist he met at his son’s nursery helped him spread the word and connect with more experts. By building strategically and quickly, James created a network capable of making real progress.

He built a company: Keep Me Breathing, and he began pursuing an idea many people thought impossible: Could we build a pacemaker for breathing?

Today, they are in phase 1, of 3, of developing exactly that. An Adapted Respiratory Modulation Interface, the breathing equivalent of a cardiac pacemaker. If successful, it could transform the lives of people with CCHS.

Enter a designer willing to push boundaries

To explore that idea, James teamed up with Duncan Fitzsimons, Director of 7th Design, a product development company known for tackling complex healthcare challenges.

Together, they have created VENTO, a portable CO₂ monitoring device designed to:

  • Sense CO₂ inside the body and in the surrounding environment
  • Alert users to dangerous peaks and dips

It sounds simple, but nothing like it existed. No portable CO₂ monitor on the market came close to what they needed. So they started from scratch—building early prototypes based on every piece of research they could find.

Testing VENTO meant long sessions of exercise, breathwork, and controlled environmental experiments. Many attempts failed. 

It was a huge challenge control the local environment on the skin, and finding ways to filter out all the real world noise in the wider environment that mess up readings, but by methodically solving one problem at a time, something promising emerged.

It was like trying to hear a really quiet noise in the middle of a music festival

Duncan Foster Fitzsimons

7TH Design

VENTO now reliably establishes a baseline after about 15 minutes, then tracks peaks and troughs in CO₂ levels, allows trends to be established. In a live on stage demo, both James and Duncan wore devices broadcasting through their own built-in Wi-Fi hotspots. 

Most importantly, VENTO can issue a breathing reminder if CO₂ rises, making it potentially lifesaving for people with CCHS.

Why VENTO is more than a medical device

One of the project’s most strategic decisions was to explore how VENTO could be used for non clinical uses, particularly in monitoring performance in sport.

Positioning VENTO beyond rare disease widens the investment appeal, speeds up testing, and generates more real-world data. It also helps build a stronger commercial case for on-the-go CO₂ monitoring and data that can ultimately support medical validation.

“Acting like a business helps you to progress products,” James says. For many patient-led groups, this mindset shift could be transformative.

I hope very soon I’ll be able to say that this technology is changing people’s lives by making them healthier and safer every day.
James Oakley

Keep Me Breathing

A blueprint for patient-led innovation

Many patient communities have amazing ideas but little clarity on how to move them forward. James and Duncan’s collaboration shows that it is possible – likely challenging, slow, and a hard slog, but absolutely possible – to turn lived experience into breakthrough innovation.

From early failures to promising prototypes, their journey reflects what happens when determination meets design, and when parents refuse to accept the limits placed on their children’s lives.

VENTO isn’t just a device.
 It’s a breath of possibility—and a powerful reminder that transformative ideas can start at home.

View RAREsummit25 YouTube playlist for more

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Sensmart – providing multi-sensory solutions

Sensmart – providing multi-sensory solutions

by | Sep 12, 2022 | RAREfest, Community, Med tech, Technology

Aisha Purvis has spent over ten years helping others in the health and social care sector. She has witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration.

Identifying challenges

During the pandemic, Aisha was completing her university placement as a mental health nurse. It was an immensely challenging time for those working in the health and social care sector. With over ten years of experience in the industry, she had developed for a keen eye for identifying current systems that weren’t effective and a passion for suggesting solutions. 

She witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration, exacerbated by staffing issues and the heart-wrenching events of the global pandemic.

For patients that are non-verbal, explaining their choices and preferences poses a huge obstacle. Aisha knew from her work as a care home manager and research as a student that 45% of patients admitted to the hospital risk malnutrition and dehydration.

Aisha also has a daughter diagnosed with Rett syndrome, which affects her MECP2 chromosome. Her daughter struggles with neurodevelopmental, communication, and motor difficulties.

“During a regression, my daughter would eat only pickled onion space raiders. I would come home every day to my blue-tongued little girl. I couldn’t bear to see my daughter struggle like I had seen my patients.”

Aisha Purvis

Founder , Sensmart

Cambridge Rare Disease Network - Sensmart - providing multi-sensory solutions 1

Suggesting solutions

Aisha came up with the idea of Sensmart and co-founded it with Alex Chikhani. Sensmart provides a multi-sensory experience, combining scent prompts which reflect an entire meal, texture touch, tactile images, braille, and personalised voice prompts.

The product aims to help patients engage in a meaningful activity whilst promoting choice and independence. The product’s tremendous attention to detail allows family members to customise auditory stimulation to reflect their voices. It also provides real-life textures like that of orange peel to enable patients to connect with their choices.

“We’re tackling not only the challenge of malnutrition and dehydration but also communication barriers, food waste, and the issue of healthy eating. We’re helping both the planet and people.”

Alex Chikhani

Co-founder, Sensmart

 

The idea highlights how those who are proactive in finding groundbreaking solutions in the rare community can have impacts rippling across multiple industries and conditions. Alex describes how various fields have already taken an interest in the product – from the private and public healthcare sectors to tourism and hospitality.

Join them at Rarefest22 for an interactive multi-sensory showcase. The team has devised various engaging, fun activities accessible to all. Be prepared to have your senses warped! Learn more about their exhibit at RAREfest22. 

Book your ticket for RAREfest22

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RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

by | Sep 15, 2021 | Community, Drugs and pharmaceuticals, Events, Healthcare, Med tech, Patient Groups, Raising awareness, RAREsummit, Treatments

Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21 logo for website menu only

On 7th October 2021, we’re holding our 5th RAREsummit – CamRARE’s flagship event – bringing together more than 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.

One of the key areas we’ll be exploring is how far patient group and industry relationships have come over the last five years – and why collaboration between the two is so vital when it comes to driving forward progress in rare diseases. Through a mixture of talks, panel discussions, fireside chats, workshops and Q&As, we’ll be sharing some inspirational examples of how advocacy groups and companies have been working together to achieve fantastic results.

Advocacy groups for rare diseases have become more than voices; they are an essential source of transformational therapeutic advances. Increasingly patient groups want to be involved in the drug development and tech solution process earlier and more often. From bringing their expert patient or caregiver insights to clinical trial design to ensuring acceptable protocols and helping to raise awareness of ongoing clinical trials, or mounting viral disease awareness efforts that help to condition the markets, today’s patients are increasingly empowered and savvy – and they offer a powerful voice.

With the rise of social sharing online, traditional boundaries are evaporating. Companies are now actively listening and engaging with patients from the outset – and are working out how to make sure these collaborations are as impactful and effective as they can possibly be.

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 2
photo of Alex Lloyd
Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

One of the organisations we’ve partnered with for RAREsummit21 is Eastern AHSN (Academic Health Science Network). At last year’s RAREfest, they asked people living with rare conditions what their biggest everyday challenges were. Our community spoke and we listened. The innovation community has responded with tech and digital solutions to help with care coordination, wellbeing and mental fatigue – or ensuring health information is done well. At RAREfest21, we will get the opportunity to hear five of the best solutions presented live. Innovators will but put through their paces in a dragon’s den style session by judges Lou Jopling – Commercial Director at EAHSN, rare disease policy expert Alastair Kent, Sean Richardson the General Manager of Alexion Astra Zeneca, founder of Timothy Syndrome Alliance – Sophie Muir and CamRARE’s Chair, Dr Gemma Chandratillake. It is set to be a riveting session!

Alex Lloyd, Principal Advisor and Commercial Delivery Lead for Eastern AHSN, told us:

“We work with so many incredible innovators whose great ideas have come from a variety of sources. Often an idea comes from clinicians who have spotted an unmet need, or a technical expert who understands how technology can be applied in different ways to help different patient groups. Some of the best ideas, however, come from the lived experiences of patients and their families.

The first step in alleviating a problem is understanding it, and who knows the impact of a rare disease better than somebody living with one? That’s why we’ve collaborated with the CamRARE to engage with the rare disease community to really listen and understand the issues they face daily. We found that one of the biggest challenges was access to clear, reliable health information about rare diseases, whilst many struggled with disjointed care. Another common theme was the impact a rare disease can have on an individual’s wellbeing, with many people suffering from mental fatigue.

By gathering these insights, finding common themes and developing them into challenges, we’re able to work with innovators to find solutions that have a real impact in improving the lives of people with rare diseases and their families. We hope to demonstrate the value of starting with listening to the community, empowering them to shape healthcare services to provide real benefits for people with rare diseases.

At RAREsummit21, we are giving the five most promising innovations a unique opportunity to pitch their idea in front of a live audience and gain valuable feedback whilst creating connections to help them take the next steps in their innovation journey to deliver impact.

We believe that citizens, academia, health services and industry will achieve so much more working together than they will in isolation and we’re excited and honoured to be involved in RAREsummit21.”

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 3

AMPLIFYING patients’ voices 

At RAREsummit21, we’ll also be hearing inspiring examples of how patient groups are making their voices heard. We’ve been collaborating on a brilliant project with Prime Global to help patient groups develop impactful posters and pitches for the gallery on our virtual platform.  The passionate Emma Sutcliffe from Medical Communications agency Prime Global will be running a session that shares the work they’ve undertaken with these groups and and why it’s essential to amplify the patient voice through these Patient Voice Publications.

Amy Sharples from Prime Global told us: “Patient Voice Publications tell the patient story – from real world experience and burden of disease to hopes for the future. They are stories told by patients for pharma, to focus on what matters. Ultimately, this leads to the triple win – better outcomes for patients, for pharma, and for society.”

At the session, you will hear how these publications are having a real-life impact for patient groups, as Jess Duggan – mum to a child with SYNGAP1-related NSID (non-syndromic intellectual disability) explains: “Taking our story to pharma via Patient Voice Publications helps us raise awareness and highlight what’s vitally needed so that we can work together to deliver better support, diagnosis, treatment, outcomes, and hope, for patients and their families.”

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 4
photo of Sophie Muir
Image: Sophie Muir Chair of the Timothy Syndrome Alliance 

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

Is serendipity is enough when it comes to developing impactful collaborations between patient advocacy groups and industry? Can systematically linking stakeholders in the right setting help to catalyse better collaborations?

To test this hypothesis, CamRARE recently ran a partnering event through their Companies Forum between rare disease patient groups and companies.  Sophie Muir, Chair of Trustees from the Timothy Syndrome Alliance took part and said “There are many overlaps with rare diseases. Bringing stakeholders together to share experiences increases opportunities of contacts and knowledge for both patient groups and industry.” 

At RAREsummit21 we’ll be showing a short film on demand, the story of an ultra rare epilepsy patient group, Ring20 Research and Support, and their collaboration with sequencing specialists Illumina.  Ring20’s CEO Allison Watson gave a moving talk to attendees at CamRARE’s RAREsummit in 2019, a talk which challenged industry to help unravel the diagnostic odyssey for their children. This call to action led to a serendipitous meeting with a representative from Illumina over lunch, and from there the collaborative UNRAVEL project was born.  Allison said:

“We’ve started an internal scientific collaboration, which has evolved from discussions with companies following your CamRARE RAREsummit last year and also involves another company following CamRARE’s invite for me to present at your Companies Forum – so your events have a HUGE amount of value to us!”

We’re big believers in the power of our network to connect the right people and give patient groups the platforms  they need to  tell their stories to the right people in the right way. 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

Book your tickets
Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 
Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

Book your tickets

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CamRARE Companies Forum 2020: Connecting the dots

CamRARE Companies Forum 2020: Connecting the dots

by | Oct 1, 2019 | Healthcare, Companies Forum, Drugs and pharmaceuticals, Med tech

Cambridge Rare Disease Network - CamRARE Companies Forum 2020: Connecting the dots 5

Can CamRARE’s Companies Forum 2020 connect the dots?

Active stakeholders in the rare disease forum are all too aware of the complex landscape that surrounds the development of treatments for such conditions. From small patient populations and lack of real-world evidence to the NICE Impact model (QALY) and big price tags, taking a drug from compound to the patient still remains an enormous challenge, where 95% of rare diseases currently have no viable treatment, a challenge that significantly burdens patients, families and indeed healthcare budgets.

COMPANIES FORUM: Recognising the Challenges

CamRARE, at the heart of Cambridge and its world class life science heritage, recognised this challenge and the opportunities it presents for the charity to create a climate of positive and meaningful collaboration that could become a driving force towards improved outcomes for rare disease drug development.

Our first step in recognising the challenges in patient access to drugs was to identify the drivers for stakeholders.  Science, economic viability and, running through both, measuring improved health outcomes (real-world evidence).

Step two was to bring together a broad range of stakeholders to develop a joined-up approach within the forum for supporting and influencing drug development strategy. To find out more about our Companies Forum we asked CamRARE Trustee Dr. Ron Jortner the charity’s Companies Forum lead, to tell us why he feels this initiative is an important part of the Cambridge rare disease eco-system.

Cambridge Rare Disease Network - CamRARE Companies Forum 2020: Connecting the dots 6
Dr. Ron Jortner, CamRARE Trustee and Founder and CEO of Masthead Bioscience

In conversation with Dr Ron jortner, Companies forum lead

What is the main aim of the Companies’ Forum?
“It is only through collaborative effort and stakeholder interaction that treatments and care can be developed for the benefit of those affected by rare diseases. Our mission at CamRARE is to create those networks, by bringing together the relevant stakeholders and facilitating these interactions. Companies’ Forum is a special case of that, focused on industry. Its aim is to encourage collaboration between industry leaders and in turn, other stakeholders, with the goal of advancing the development of treatments and care options for rare conditions.”

 

What sort of companies get involved?

“We welcome industry leaders with an interest in making a mark in the rare disease area. Many of our members are companies doing their own R&D; this includes some pharma and biotech companies who specialise in rare disease, as well as other, larger pharma companies for whom rare disease is just one of their focus areas. There are also members involved in drug re-purposing, in home care, and we have recently seen interest from some rare-disease-focussed CROs.  As with all CamRARE activities, it is this variety that creates synergies and opportunities for collaboration, which is so essential in the rare disease field. I hope we continue attracting such a variety of companies.”

 

How are COMPANIES FORUM meetings structured?

“Meetings are small, limited to 20 attendees. They typically last half a day, including a networking lunch or dinner. The atmosphere is very relaxed and informal, characterised by open discussion and free exchange of ideas and insights; we follow the Chatham House Rules to encourage this. Each meeting has a high-profile keynote speaker or panel, and attendees get a chance to engage in open discussion with them, workshop-style. As each meeting is small, informal and the atmosphere is intimate, discussions usually go deep.   Attendees have often complimented us on the level of content they get from our meetings.”

 and Tell us more about the next meeting…

“Our next Companies Forum meeting will be held at the Royal Society of Medicine on November 29th. It will focus on collaborative strategies to expedite drug development in rare diseases. The meeting will feature Prof. Chas Bountra, Pro-Vice Chancellor of Innovation at Oxford, and a thought leader on translational medicine, and several patient advocacy group CEOs – Daniel Lewi from CATS Foundation, Tess Harris from PDUK and Allison Watson from Ring20.  We will discuss ideas for expediting and streamlining the development of treatments for rare conditions and how patient groups can help in this – a topic of high interest to everyone involved. We’ll be convening in one of the RSM’s beautiful meeting rooms, and also have a nice lunch during the four-hour meeting.”

Cambridge Rare Disease Network - CamRARE Companies Forum 2020: Connecting the dots 7
Prof. Chas Bountra, Pro-Vice-Chancellor of Innovation at Oxford University Innovation

Do you see this forum affecting change and if so, at what level?

“Absolutely.  Firstly, as I already said, stakeholder interaction is itself a catalyst for progress in developing treatments. For example, a pharma company may already have a molecule in its portfolio which can benefit patients with some rare condition, but the company may not have ever heard of that rare disease. Such case exactly, where a company suddenly became aware of a condition, led to such realisation and now there’s a Phase 2 clinical trial for a drug that could potentially treat the fibrosis element of Alström Syndrome. We can’t even imagine how many such opportunities exist that have not been realised yet. Secondly, our vision for Companies Forum is that it becomes a taskforce, taking on one or more missions in the rare-disease field with members working on them together. Our members have already discussed a collaborative project on identifying unmet needs in patient homecare. We are brainstorming around these ideas just now.”

 

HOw do you like to describe the forum?

“I would describe it as a progressive group of industry leaders from pharma, biotech and healthcare who meet regularly to exchange ideas and do collaborative work on rare-disease projects with patients firmly in mind.”

 

 If you would like to participate in our next Companies Forum visit our website  for more information, and contact Jo Balfour for membership details.

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RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

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

Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 8

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" 10
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 11
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 12
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 13
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 14
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 15
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 16
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 17
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 18
Cambridge Rare Disease Network - RAREfest18 "heartwarming, uplifting, informative" 19

Saturday’s Roundup

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

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

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

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

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

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

 

Here are some stats from RAREfest 2018

RAREfest in Numbers

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

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

Steve Smith

Head of Rare Diseases & Gene Therapy

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

Harriet Gridley

Head of business development UK at No Isolation

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CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack

CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack

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

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

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

Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 20
Dr Gemma Chandratillake, CamRARE trustee, inspires the attendees with her patient-centric talk
The 150 participants with backgrounds in statistics, bioinformatics, genomics, medicine, design, entrepreneurship and patient advocacy listened to pitches from each of the challenge partners before making their way into teams with others interested in a particular challenge.

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

And the winners were…

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

Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 21
Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 22
 
Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 23
Cambridge Rare Disease Network - CamRARE takes part in the Wellcome Genome Campus Hackathon #BioHack 24
Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

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CamRARE trustee helps new mums learn genomics from home

CamRARE trustee helps new mums learn genomics from home

by | Feb 26, 2018 | Artificial Intelligence, Genomics, Healthcare, Med tech, Technology

Dr Gemma Chandratillake, CamRARE trustee and East of England Genomics Education Lead, attended the No Isolation AV1 avatar breakout workshop at the CamRARE Summit 2017 in October.

Like others attending she quickly began to see applications for the robot beyond its original purpose, to reduce isolation for children living with long-term, chronic illness.  At the summit, Mio Kristiansen, from No Isolation, gave the audience an opportunity to see the robot in action as it sat on the stage during the afternoon talks, controlled from Edinburgh by Rare Disease carer, father and advocate John Wallace.

John was unable to leave his family to travel to the event so joined us via AV1, watching the action live on his laptop at home, and on one occasion, heckling the speaker and being told to be quiet!

So how did this inspire Gemma to help her students?

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Image above from Cambridge Independent newspaper
Cambridge Rare Disease Network - CamRARE trustee helps new mums learn genomics from home 26
Screenshot above from C4 news  website
Read this article in the Cambridge Independent newspaper, and watch the recent Channel 4 news footage from Jon Snow.

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

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

by | Sep 21, 2015 | Drugs and pharmaceuticals, Events, Front page news, Guest posts, Healthcare, Med tech, Patient Groups, RAREsummit, Technology, Treatments

Tackling the rare disease conundrum with passion, innovation and investment

Article by Paul Tunnah, Pharmaphorum

Passion

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

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

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

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

Cambridge Rare Disease Network - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 27
Professor Gregory Winter – Cam Uni and Cambridge Antibody Technology (right), Dr Tim Guilliams – Founder and Chair CamRARE (left)

 Innovation

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

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

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

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

Investment

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

Cambridge Rare Disease Network - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 28
Herman Hauser – speaker 

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

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

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

Paul Tunnah

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

Cambridge Rare Disease Network - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 29
Professor Stephen Hawking provided a video keynote 

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

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