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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.

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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.

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Progress, Partnership, and Possibility – Highlights from RAREsummit25

Progress, Partnership, and Possibility – Highlights from RAREsummit25

by | Nov 11, 2025 | Education, Events, Raising awareness, RAREsummit, RAREsummit25

Cambridge Rare Disease Network marks 10 years of collaboration at RAREsummit25.

The Cambridge Rare Disease Network (CamRARE) celebrated its 10th anniversary in inspiring style, as 250 delegates gathered on 6 November at the Wellcome Genome Campus for RAREsummit25, marking a decade of progress, partnership, and purpose in the rare disease community.

The event brought together people from across the rare disease ecosystem — patients, families, researchers, clinicians, industry leaders, policy-makers, and advocates — to explore the future of research, care, and innovation. Across keynotes, breakout sessions, and panel discussions, one message echoed throughout the day: real progress happens when partnerships endure.

Photo of Jo Balfour presenting the introduction to Rare Summit 25, with a slide showing 10 moments in the last 10 years of CamRARE.

Reflecting on the milestone, Emma Green, CamRARE’s Chair of Trustees, emphasised the importance of these shared spaces:

“It’s really important to bring the rare community together in places such as the Rare Summit to give everyone an opportunity to voice their challenges, their concerns, their needs in this space. It’s all about the connections — families looking for treatments or diagnoses for their children who can meet researchers working on such things. But they also get to meet other families, other individuals who are going through the same journey.”

It’s all about the connections — families looking for treatments or diagnoses for their children who can meet researchers working on such things. But they also get to meet other families, other individuals who are going through the same journey.

Emma Green

CamRARE

That sense of connection — of finding community within the complexity of rare disease — ran through every conversation. For Stacey McGeown, a parent and researcher from Queen’s University Belfast, the summit offered both knowledge and hope:

“The reason I’m here today is because I am a mom of a child that has an extremely rare bleeding disorder. Whenever you have a child that has a rare disease, you feel a lot of isolation and loneliness. So, we’re here to learn and connect. It’s been inspiring to see that so many of the speakers started as passionate parents — it gives us hope that we can progress as well.”

A Decade of Impact

The summit’s opening session, Ten Rare Moments and Legacy in Action, celebrated CamRARE’s achievements over the past decade — from shaping policy and co-designing research to building communities that empower people with lived experience. The charity’s initiatives, including the Rare Disease Research Network (RDRN) and the Rare Patient Passport, have helped transform how research and healthcare systems listen to and involve patients.

Mental Health and Wellbeing

A major theme woven through the day was mental health — a critical yet often overlooked part of the rare disease experience. Lauren Roberts from the charity RareMinds captured this perfectly:

“Discussing mental health here at the RAREsummit is a really vital part of everything that’s been discussed today. Whether the session is about mental health specifically or about self-advocacy and diagnosis struggles, we know this always has a mental health impact. I loved the wellbeing panel — they showed that the support people need isn’t rocket science. Often quite small things could make a really big difference.”

I loved the wellbeing panel — they showed that the support people need isn’t rocket science. Often, quite small things could make a really big difference.

Lauren Roberts

Rareminds

Human Rights, Advocacy and Innovation

Breakout workshops allowed participants to dive deep into topics such as human rights, youth engagement, and innovation. Max Fisher, a rare patient and scientist at Vianatus, highlighted how these sessions spark change:

“The breakout sessions have been absolutely fantastic. I particularly enjoyed the human rights quiz workshop with Dr Lucy McKay. We got to see how human rights and rare disease intersect and how we’re going to move forward on this journey with those two hand in hand.”

Technology, Data and Ethics

Among the event’s standout sessions was a focus on technology and data — exploring how innovations like Digital Twins, AI, and data-driven modelling can accelerate diagnosis and personalise care. Speakers also reflected on the responsibility that comes with progress, highlighting that data must serve people, not systems.

Powering Collaboration

For many, the day wasn’t just about discussion — it was about forging practical partnerships through the ample networking opportunities provided in the exhibition and poster zones and the post event dinner. James Oakley, co-founder of Keep Me Breathing, a startup developing a CO₂ monitor for children with the rare condition CCHS, summed it up:

“The RAREsummit is so important because it can accelerate everything we’re doing. We’re now speaking with companies such as Alexion, as well as making amazing new contacts who have offered to help us in what we’re doing. And you can’t buy that.”

We’re now speaking with companies such as Alexion, as well as making amazing new contacts who have offered to help us in what we’re doing. And you can’t buy that.

James Oakley

Keep Me Breathing

Photo of the rare summit audience, with four women in the foreground smiling and clapping

Looking ahead

As CamRARE unveiled its new strategy — focused on community, research, and shared purpose — the atmosphere was one of optimism. The next decade promises breakthroughs in digital health, epigenetics, and pioneering therapies, but the charity’s leaders were clear that progress must remain patient-centred and collaborative.

Closing the summit, the message was simple yet powerful:

Progress in rare disease is no longer defined by isolated effort, but by shared purpose. The hope is that no one living with a rare condition will ever feel alone — and that every step forward, from lab to policy, will be powered by empathy, equity, and connection.

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Reducing the Diagnostic Odyssey: Insights from Companies Forum

Reducing the Diagnostic Odyssey: Insights from Companies Forum

by | Aug 27, 2025 | Artificial Intelligence, Collaboration, Companies Forum, Drugs and pharmaceuticals, Education, Events, Genomics, Healthcare, Patient experience, Raising awareness, Research, Technology, 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.

The Diagnostic Odyssey

For people living with rare conditions, the search for a diagnosis is often described as an “odyssey” — a long, exhausting journey through healthcare, marked by misdiagnoses, delays, and uncertainty.

At our Companies Forum meeting on Reducing the Diagnostic Odyssey in Rare Disease (14 July 2025 at Friends House in London), experts from research, healthcare, industry, and patient organisations came together to explore how we can shorten this journey and create a more equitable system.…

Why diagnosis matters

A timely diagnosis is critical: it connects patients and families to treatments, support networks, and clinical research. Global milestones — from the UN Resolution on Rare Disease (2021) to the WHO Resolution (2025) — underline that diagnosis is not just a medical matter but one of equity and justice. Yet, systemic barriers still stand in the way.

Screening for rare diseases

Anna Need (Genomics England) presented the Generation Study,  a national research study sequencing genomes of 100,000 newborns to assess the feasibility and impact of whole genome sequencing (WGS) into NHS newborn screening. So far, more than 14,800 babies have been enrolled, with dozens of suspected cases identified.

Key principles of the study include informed consent, workforce training, equitable access, and ensuring results are acted upon with proper care pathways, with sensitivity at all stages.

A powerpoint slide entitled Sickle Cell presented to a round table meeting

Meanwhile, Iyamide Thomas (Sickle Cell Society) reflected on lessons from the UK’s national sickle cell screening programme, introduced in 2004. The UK was the first country to link their antenatal and newborn screening programmes. It has saved lives by enabling early treatment, but challenges remain.

“You screen to care. Screening only works if results are communicated clearly, promptly, and with support.” – Iyamide Thomas

Beyond the genome

Even when whole genome sequencing is available, only about a third of rare disease patients currently receive a diagnosis. Gemma Chandratillake (NHS East Genomics) explained how other ‘omics’ — including transcriptomics, proteomics, and metabolomics — alongside AI, can help to provide the missing pieces.

From facial recognition tools that support diagnosis to algorithms that predict protein structures, technology is moving quickly. Some approaches are already in use within the NHS, while others are still research-based. The challenge is choosing the right test at the right time.

It’s not just about sequencing more. It’s about bringing together the right tools, at the right stage, for the right patient

Gemma Chandratillake

NHS East Genomics

Harnessing data and AI

Health data holds untapped potential to flag undiagnosed rare disease cases. Elizabeth Varones (Mendelian) shared how their MendelScan platform analyses electronic health records using 50+ disease-specific algorithms. This helps identify at-risk patients earlier and supports equitable access to testing and trials.

Saran Muthiah standing in front of his slide presentation

Similarly, Saran Muthiah (Enrich My Care) described how their platform, initially designed for care coordination, is evolving into a diagnostic red-flagging tool. By enabling families to upload structured and unstructured health data — from clinic notes to video clips — the app can triage cases faster, reducing waiting times for conditions like epilepsy.

Both speakers stressed the need for NHS adoption and interoperability to realise the full impact of these innovations.

Embedding diagnosis in policy

Policy levers are vital to embed rare disease diagnosis into the health system. Liz Hookham (LifeArc) presented recommendations from a UK task force, calling for stronger registries, adoption of ICD-11 coding, and a national rare disease clinical director to champion change.

Meanwhile, Sue Farrington (RAIRDA & SRUK) outlined progress toward the first ever NICE Quality Standard for Rare Diseases. After consultation with over 500 stakeholders, the proposed standard includes timely referral, recognition of undiagnosed patients, and integration of genomics.  The main benefit of this initiative over current best practice guidelines is that quality standards are audited which will help drive their use.

A quality standard gives families something powerful: accountability. It creates benchmarks we can measure against

Sue Farrington

RAIRDA & SRUK

The scoping exercise is complete with around 20 proposed quality standards that needs to be refined 6-8 for the final.

There was much excitement in the room to hear of this happening!

Key takeaways

Throughout the meeting, several common themes emerged:

  • Equity must be central: underserved groups face the longest diagnostic delays.

  • Genomics is not enough: combining omics, AI, and patient-led data is key.

  • Data matters: registries and interoperable systems underpin progress.

  • Patient voices drive change: advocacy groups play a critical role but need sustainable support.
Photo of Forum members networking over coffee

Looking ahead

The forum showed that ending the diagnostic odyssey is not just about technology, but about trust, collaboration, and political will. With the right tools and policies, we can shorten the journey to diagnosis and ensure no family has to navigate it alone.

The ultimate goal is simple: faster answers, fairer care, and better futures for people with rare diseases

An array of Companies Forum member logos as of July 2025

Membership

Join the conversation that’s changing the rare disease landscape.

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.

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RAREsummit returns to Cambridge for 2025

RAREsummit returns to Cambridge for 2025

by | Aug 5, 2025 | Collaboration, Education, Events, Patient experience, Raising awareness, RAREsummit, RAREsummit25, Technology

CamRARE’s unique biannual conference is back for 2025 – gathering scientists, researchers, tech innovators, policy-makers, funders and patient organisations to connect and collaborate.

Did you know that the CamRARE charity was formed following the first RAREsummit in 2015?  So this year we will be reflecting on…

A decade of progress. A future of possibilities.

Click below to watch the highlights film from 2023 and get as taste of what’s to come.

The programme for 2025 is already packed with brilliant and unique content. Read on to find out more.

Book RAREsummit25 tickets

Spotlight on RAREsummit Alumni: Beyond Blood Diagnostics

At RAREsummit23, we were proud to provide a platform for emerging tech innovators to pitch solutions to real-life challenges faced by those living with rare conditions.

The winner of our innovation pitching challenge, Beyond Blood Diagnostics, wowed the judges with their vision for home-based blood testing to reduce hospital burden and improve access to diagnostics.

Cambridge Rare Disease Network - RAREsummit returns to Cambridge for 2025 1

Since then, they’ve worked with Health Innovation East and CamRARE to explore the need for their solution within the rare disease community and build a strong business case.

We’re thrilled to welcome them back to RAREsummit25 as part of our “Where are they now?” Impact Stories from RAREsummit alumni session — and this time, they’ll also be exhibiting and demoing their tech! Don’t miss the chance to see how far they’ve come and what’s next.

Spotlight on Panels: Rare Disease Research Network (RDRN) Showcase

Following the launch of the Rare Disease Research Network platform by CamRARE and PLRH in late 2024, RAREsummit25 will spotlight three patient voices as they pitch research ideas shaped by their communities — and share exactly what they need to take them forward.

In this RDRN Showcase session, each speaker will present a lived experience-driven research priority, along with a clear call to action: are they looking for collaborators? Funding? Mentors? Study participants? A company with the right tech?

We’re excited to welcome David Hogan, patient advocate and founder of an international men’s mental health support group for rare disease. In his talk, “…And Voices for All” (inspired by Metallica’s …And Justice for All), David asks:

“How do we ensure all voices — especially those often left out — are represented in rare disease research?”

Since his diagnosis in 2017, David has connected men from around the world through honest conversations about mental health, identity, and living with rare conditions. Now, he’s calling for greater inclusion of men, LGBTQIA+ people, and other underrepresented communities in research and advocacy.

He’ll be joined by Sarah Dearman (Children’s Hyperinsulinism Charity) and Scott Hutchings (CHAMP1 Research Foundation), who will also pitch community-led research ideas and outline the support they need to take the next step.

Can you help make these projects a reality?
They’re looking for:
🔹 Expert collaborators
🔹 Mentors
🔹 Funding
🔹 Study participants
🔹 Industry partners

Be in the room where research ideas start — and help shape what happens next!

Workshops: Interactive, Insightful, and Led by You

This year, we’re bringing you a packed programme of interactive workshops where you can have your say, help shape the future, and choose the sessions that matter most to you. With a wide range of themes, there’s something for everyone — whether you’re a patient, researcher, clinician, or industry partner.

The RAREsummit19 Hackathon underway

Topics include:
✔️Exploring Rare Diseases Through the Lens of Human Rights – with the RDI-Lancet Commission
📊 Empowering Patient Groups with Real-World Evidence
🧬Naming Genetic Conditions: Language, Identity, and Ethics
🇬🇧 The Future of the UK Rare Disease Framework
🌐 Rare Diseases in Online Spaces: Community, Safety & Voice

Come ready to connect, collaborate, and contribute to real change.

How you can get involved

Share Your CamRARE Impact Story!

Have you got a great CamRARE event story to tell?
Did you meet someone, hear something, or spark an idea at one of our events that led to a meaningful collaboration, new project, or real-world impact?

We’re looking for stories of connection, inspiration, and change sparked by past CamRARE events — and we’d love to feature them at RAREsummit25.

Got an idea for a discussion or worshop?

Submit an Expression of Interest.

Expression of Interest Form

Networking Dinner

As the sun sets on an inspiring day of bold ideas and promising connections, we invite you to gather for the grand finale.

Raise a glass to 10 years of CamRARE — a decade of driving change, championing collaboration, and giving voice to the rare disease community.

Close up photo of two glasses of fruity looking drinks being clinked together

Enjoy a delicious three-course fine dining experience at Hinxton Hall, on the Wellcome Genome Campus, with a glass of wine or a soft drink on arrival and an opportunity to keep the conversations going!

Let’s toast to the past, the present, and the future we’re building together.

Book for RAREsummit25 & Networking Dinner

Thank You Sponsors!

We couldn’t do this without the support of our fabulous sponsors – a huge thank you to all!  Will YOU join us?

Close up photo of two glasses of fruity looking drinks being clinked together
See RAREsummit25 webpages for more

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From Pastry to Chocolate: How Stuart Hann Turned Blindness into a Sweet Success Story

From Pastry to Chocolate: How Stuart Hann Turned Blindness into a Sweet Success Story

by | Oct 16, 2024 | Raising awareness, RAREfest

In the heart of the English Lake District, where rolling hills meet tranquil waters, there’s a story that’s as sweet and rich as the finest chocolate you’ll ever taste. It’s the story of Stuart Hann—an award-winning pastry chef turned pioneering chocolatier—whose journey from kitchen wizardry to becoming the world’s first registered blind chocolatier is nothing short of astounding.

Diagnosed with the rare eye condition Leber’s Hereditary Optic Neuropathy (LHON) in 2015, Stuart went from having functional vision to being registered as legally blind in a matter of months. Leber’s is a genetic disorder that leads to the loss of central vision, leaving individuals with only peripheral sight. It’s rare – affecting about 1,500 people in the UK, and left Stuart unable to drive, read, or recognise faces.

Stuart’s journey is as unique and handcrafted as his extraordinary creations. With the support of his family, friends, and his own unshakable determination, he decided not only to continue his culinary career but to embark on a new adventure: chocolate. And so, “The Blind Chocolatier” was born—a name that carries a nod to his visual impairment, but more importantly, a testament to his talent and innovation.

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Overcoming Challenges, One Chocolate at a Time

Stuart was working as a pastry chef when his vision began deteriorating. His hands were his tools, and precision was essential. After the diagnosis, his employers made decisions for him, assuming he couldn’t continue in his beloved role. Rather than asking Stuart what support he needed, they removed him from the pastry kitchen, placing him in a less creative role as prep chef and on the door. It was a frustrating period for Stuart, who knew that his blindness didn’t diminish his abilities or creative passion.

Stuart chose to strike out on his own. He had always dreamed of running his own chocolate shop, and the time had come to turn that dream into reality. He returned to his craft, determined to adapt to his new reality. With a little ingenuity and a lot of stubbornness, he taught himself to work around his limited vision. Soon, he was back in the kitchen, dreaming up a business that would not only reignite his love for making desserts but push the boundaries of what people thought was possible for a visually impaired chef.

With the fitting name “The Blind Chocolatier”, Stuart embraced his new identity, setting up shop in his hometown of Staveley. His chocolates are anything but ordinary confections – shiny, bright, and brimming with innovation. Stuart often jokes that “his chocolates sell out faster than he can make them”, which is a testament to his remarkable skill and ingenuity. 

Using colourful cocoa butter, he crafts eye-popping designs. Each piece is handmade with incredible attention to detail, using innovative techniques like repurposing lip gloss brushes for the finer details, to ensure every product is as beautiful as it is delicious.

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Creative Confections and Chocolate Adventures

Since opening “The Blind Chocolatier” in 2019, Stuart’s business has thrived beyond his expectations. What sets Stuart’s chocolates apart isn’t just their flavour – although his white chocolate, orange, and maple combo will have you hooked – it’s the sense of playfulness and creativity behind each piece. From chocolate replicas of Saturn suspended on fishing wire to a chocolate model of a firetruck sculpted entirely from chocolate, his creations are as fun as they are delicious. His chocolates have wowed locals and visitors alike, with repeat customers returning for more.

But Stuart’s story is about more than just business success—it’s about changing perceptions. As someone registered blind, Stuart is often surprised when people realise he is still able to see in limited ways.

With LHON, the central vision is affected, but many people retain peripheral vision, which allows them to navigate the world in their own unique way. Stuart uses technology, such as his phone’s zoom function, to read ingredient labels, and he’s meticulous about keeping his workspace organised to avoid mistakes. Stuart has spoken at conferences and is keen to educate others on what life with LHON is like. He’s living proof that visual impairment doesn’t mean the end of independence or ambition.

“People are often surprised that blind people can still see a bit. They don’t understand that blindness doesn’t always mean total darkness. Many people who are registered blind have some vision, with only 5-10% having a complete loss of vision”.

Stuart Hann

The Blind Chocolatier

Sweet Success – But What’s Next?

Though Stuart is the sole operator of his business at the moment, he has big plans for the future. Stuart is always dreaming up new ideas. He’s working on expanding his product line, with exciting new flavours.

“Some time is spent on product testing – trying out new flavours and creations. I have a trusted panel of product testers: my mates down the pub. I can always rely on them to be honest, and that’s exactly what I need. Once, I gave a friend a new vegan flavour to try, and she told me it didn’t taste great so I went back to the drawing board to create something better.”

Currently, Stuart manages all aspects of his business himself, from creating the chocolates to running the tills. His mother, friends, and a tight-knit support network help with deliveries, and Stuart is in the process of gaining access to work assistance for admin tasks. But whether it’s manning market stalls or developing new Christmas-themed chocolates (his dark chocolate tipsy tipple is a must-try!), Stuart’s passion and drive never waver.

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A Taste of Stuart’s World

Now, the icing on the cake: Stuart will be showcasing his talents at RAREfest24, and trust us, you won’t want to miss it. Attendees get a peek into Stuart’s inspiring journey through a film about his life. For RAREfest24’s VIP guests, Stuart is whipping up some mouth-watering Christmas flavours, including his signature dark chocolate tipsy tipple and dreamy milk chocolate with spiced caramel.

So, if you’re craving something sweet this festive season, head down to RAREfest24. You’ll leave with a smile, a new appreciation for what’s possible, and maybe even a box of Hann-made chocolates (if they haven’t sold out yet). 

If you want to enjoy some of Stuart’s creations for yourself, you can always visit his website to place an order for the holiday season. Whether it’s a gift for a loved one or a treat for yourself, every purchase supports a tenacious entrepreneur who refuses to let blindness stand in the way of living his dream.

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Unlocking the Powerhouse of the Cell: MRC MBU Brings Mitochondria to Life at RAREfest24

Unlocking the Powerhouse of the Cell: MRC MBU Brings Mitochondria to Life at RAREfest24

by | Oct 15, 2024 | Education, Raising awareness, RAREfest

Prepare to have your minds energised and curiosity sparked at this year’s RAREfest24. The Medical Research Council—Mitochondrial Biology Unit (MRC MBU) from the University of Cambridge will take you on a journey into the heart of your cells with innovative games, hands-on learning, and a fun introduction to the world of mitochondria!

But wait – what exactly are mitochondria, and why should you care about them?

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Mitochondria: The Cells Power Stations

Think of mitochondria as the power plants inside each of your cells. They’re small, but don’t let their size fool you. They’re responsible for producing ATP, the energy currency that powers just about every function your body performs. From moving your muscles to keeping your heart beating, ATP is the fuel, and mitochondria are the factories.

Mitochondria are unique compared to other parts of the cell. They have their own DNA (which is only inherited from your mum!) and can even change shape, divide, or fuse together depending on what your body needs at the time. Plus, they’re not just one-trick ponies. These fascinating organelles are involved in many vital processes, from regulating cell death to helping with calcium storage.

If you’ve ever heard of mitochondrial diseases, you’ll know that when these tiny powerhouses go wrong, it can lead to serious problems. These disorders can affect multiple organs and lead to symptoms as varied as muscle weakness, neurodegenerative conditions, and even heart disease. Mitochondrial mutations give rise to a range of rare conditions, including Pearson Syndrome, and several ultra-rare disorders, some of which remain unnamed.

So, who’s leading the charge in studying mitochondria and finding ways to address these diseases? Enter the MRC Mitochondrial Biology Unit!

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Meet the MRC Mitochondrial Biology Unit

The MRC MBU is a world-leading research institute nestled in the heart of Cambridge’s Biomedical Campus. The Unit is dedicated to uncovering the mysteries of mitochondria, understanding how they work, how they sometimes fail, and how we might develop therapies for diseases linked to their malfunction.

Advances in genomics now allow for better analysis of mitochondrial mutations, but research isn’t without its challenges. The competitive nature of research and the pressure to secure funding mean scientists are constantly pushing to demonstrate the novelty and significance of their findings, while many ultra-rare mutations are poorly understood in comparison with their more historically researched counterparts.

“We’re at the forefront of understanding the role of mitochondria in human diseases, from rare disorders to common conditions like heart disease, neurodegeneration and cancer,” explains Dr Alex Whitworth, one of the leading scientists at the Unit. “The most exciting thing about our current research is that we’re discovering new ways mitochondria are involved in health and disease every day. This could open the door to entirely new treatments.”

The MRC MBU isn’t just about groundbreaking research. It’s also committed to sharing its discoveries with the public through an active public engagement programme. And what better way to engage than with games?

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Adventure in the Cell: Games That Bring Mitochondria to Life

MRC MBU’s innovative approach to science communication has taken a playful turn with its suite of mitochondria-themed games. Designed to educate and excite, these games offer a hands-on way to understand mitochondrial biology.

“We believe that science should be accessible to everyone, no matter your age or background,” says Penny Peck, MRC MBU’s Communications Manager. “Games are an excellent way to bring people into the complex world of mitochondria in a fun and engaging way. At Rarefest24, we’ll be showcasing two of our most popular games: ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA.’” The games were thought up by members of the MBU, then designed and built by SciAnsell, headed by Dave Ansell, known for bringing science to life through interactive designs.

Let’s dive into these games and see how they bring science to life.

 “We believe that science should be accessible to everyone, no matter your age or background. Games are an excellent way to bring people into the complex world of mitochondria in a fun and engaging way. At Rarefest24, we’ll be showcasing two of our most popular games: ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA.’”
Penny Peck

MRC-MBU Communications Manager

Generating ATP Pinball: Powering Up with Every Play

The ‘Generating ATP Pinball’ game is a fast-paced, interactive way to understand how mitochondria create energy. Picture this: you’re playing pinball, but instead of hitting random targets, you’re guiding a ball (representing an electron) through a mitochondrion! Your goal? To help the electron move through different protein complexes (imagine them as pinball bumpers) to generate as much ATP as possible.

The game cleverly mimics the process of the electron transfer chain, a series of steps that mitochondria use to convert food into energy. As you guide the electron, it must pass through Complexes I or II, flow through Complex III, and finally reach Complex IV to produce that all-important ATP—a real light-bulb moment. The more successful passes you make, the more energy you generate—and the more fun you have!

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Destroying Mutant Mitochondrial DNA: A Hands on Learning Experience

Another must-try at Rarefest24 is the ‘Destroying Mutant Mitochondrial DNA’ game. This game is all about understanding how mitochondrial DNA mutations can lead to disease, but don’t worry—you won’t need a biology degree to play! 

Players will find the mutant mitochondrial DNA floating around in the mitochondrion and throw the faulty DNA into a mutant mtDNA dustbin for disposal. The game is not only fun but also educational, teaching players about how mutations in mitochondrial DNA can lead to dysfunction and disease.

What’s even more fantastic is that this game is fully accessible to people with visual impairments. The MBU incorporated textured mutant DNA pieces so that they could be identified by touch, making it an inclusive experience for everyone.

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Catch MRC-MBU at RAREfest24

Now that you’ve had a sneak peek into the world of mitochondria and the fun games created by MRC MBU, you won’t want to miss their arcade of an exhibit at Rarefest24. This one-of-a-kind science festival is the perfect opportunity to explore the latest research on rare diseases while having a blast.

Attendees of Rarefest22 will remember the MRC MBU’s MitoTrumps cards—a fun, educational card game, designed by PhD student Alannah King, based on mitochondrial proteins! At this year’s booth, you’ll be able to try your hand at ‘Generating ATP Pinball’ and ‘Destroying Mutant Mitochondrial DNA,’ meet real scientists, and learn how they’re unlocking the secrets of the mitochondrion to develop new therapies for mitochondrial diseases. 

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RAREfest24 isn’t just for science enthusiasts; it’s for anyone curious about how science and innovation are making a difference in the world of rare diseases. Whether you’re a student, a parent, or just someone who loves a good game, MRC MBU’s exhibit will inspire and entertain you.

So, are you ready to power up and destroy some mutants? Join us at Rarefest24 and see how the cutting-edge research at the MRC Mitochondrial Biology Unit is making a world of difference. We can’t wait to see you there!

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The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity

The Unyielding Laughter of Phil Jerky: A Rare Comedian’s Journey through Life, Laughter, and Adversity

by | Sep 10, 2024 | Collaboration, Patient experience, Raising awareness, RAREfest

Few can rival Phil Jerky’s raw authenticity and unfiltered brilliance. Jerky makes audiences laugh with his unique blend of sharp social commentary, self-deprecating humour, and an unshakable ability to find light in the darkest situations. But behind the curtain of his punchlines lies a story not just of a comedian but of a man who has turned his struggles into a powerful narrative of resilience, battling stereotypes, and raising awareness about living with a rare disease.

A Rare Diagnosis: Young-onset Parkinson’s Disease (YOPD)

At 36, Phil was a new father to a 15-month-old son. His life took an unexpected turn when he was diagnosed with a rare neurological disorder, Young-Onset Parkinson’s Disease. The diagnosis was both physically and emotionally challenging.

Phil first noticed pain and numbness in his arms. A physiotherapist assisted him initially and recommended he contact his GP to be referred for further tests. These included an MRI, which he describes as “like being inside a fax machine,” an EMG test (needle in arm to check nerves and muscles), and more.

In 2017, he met with a specialist who delivered life-altering news. Overwhelmed, he contacted Parkinson’s UK and Spotlight YOPD (a charity supporting those with Young-Onset Parkinson’s) seeking guidance. The advisors offered reassurance, explaining that the disease progresses slowly and that thoughts of the end shouldn’t consume him. While this eased his mind to some degree, the reality of living with YOPD was far more complex. Unlike those diagnosed later in life, he faces the challenge of raising a child, managing his career, and maintaining a social life, all while navigating a serious health condition.

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In 2017, he met with a specialist who delivered life-altering news. Overwhelmed, he contacted Parkinson’s UK and Spotlight YOPD (a charity supporting those with Young-Onset Parkinson’s) seeking guidance. The advisors offered reassurance, explaining that the disease progresses slowly and that thoughts of the end shouldn’t consume him. While this eased his mind to some degree, the reality of living with YOPD was far more complex. Unlike those diagnosed later in life, he faces the challenge of raising a child, managing his career, and maintaining a social life, all while navigating a serious health condition.

Phil Jerky: A Journey into Comedy

Phil’s diagnosis could have easily silenced his laughter, but instead, it propelled him into comedy; it became another chapter in his life’s story that he chose to share with the world. Upon learning of his diagnosis, Phil needed an outlet. However, his mobility restrictions left him searching for an artistic expression which didn’t involve his hands. A friend recommended a stand-up course, which opened the door to new possibilities.

 “I’ve always tried to find the humour in things. It’s a coping mechanism. The times I can’t laugh about it are when it consumes me.”
Phil Jerky

Comedian

At first, he was unsure about being open about his disability on stage and questioned whether he wanted his health to be the focus of his jokes. However, after an inspiring chat with fellow comedian Paul Sinha, who also lives with Parkinson’s and is best known for his role as ‘The Sinnerman’ on the popular gameshow The Chase, Phil decided he had a unique opportunity to raise awareness and tell his story, wrapped in wit. Therein conceived was Phil Jerky.

Comedy as a Beacon of Awareness

Phil aspires to be a professional stand-up comedian. He uses his jokes to connect and raise awareness and makes statements about the power of humour as a coping mechanism.

At RAREfest22, Phil joined the stage on Friday evening with a stellar performance. He opened his set with:

“I have involuntary movements because I have a condition called Parkinson’s Disease. I don’t like the ‘disease’ part of the condition’s name because it implies you can catch it from me. But I can assure you right now that Parkinson’s has nothing to do with catching anything.”

The crowd warmly welcomed Phil’s humour and facetiousness, his jokes expertly crafted and delivered. Through his performances, Phil has challenged the narrative about living with a chronic degenerative condition. He has shed light on the often-overlooked experiences of people with disabilities, using his platform to dismantle stereotypes and bring attention to the nuances of daily life.

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Battling Toxic Positivity and the Double-edged Sword of Sympathy

Phil speaks particularly of the well-meaning yet ultimately unhelpful things people say when they learn of his condition. Some see him as the “brave guy with the disease.” While the admiration is appreciated, it speaks to the narrative of seeing those with health conditions and disabilities as ‘inspirational’ for existing. Others will remark, “There’s always a silver lining”, harbouring toxic positivity, which suggests that people should maintain a positive mindset no matter how dire or difficult a situation is.

On the other hand, upon learning of his Parkinsons, some people will exclaim, “Oh yes, I know of the condition… my uncle died of Parkinson’s”. Though these comments are meant without malice or are a means to connect and empathise, they are upsetting. As Phil puts it, pity can be just as isolating as indifference.

Phil talks about the burden of being seen through the lens of his illness:

“I am not brave nor an inspiration. I’m a person living my life. I’m not just my disease.”

Phil’s comedy reminds us that individuals with chronic illnesses don’t want to be defined by their diagnoses – they want to be seen for who they are, not what they have. His humour exposes the fine line between empathy and pity and our commonality as people living with good days and struggles despite our health status.

The Unstoppable Force of Laughter

Phil Jerky’s journey is a testament to the power of comedy in the face of adversity. His ability to turn his struggles into something that entertains, educates, and inspires is remarkable. Comedy, for Phil, isn’t just entertainment; it’s an outlet, a way to maintain his identity, take a stand against toxic positivity, and raise awareness through a comedic brilliance his audience can connect with.

The Cambridge Rare Disease Network are delighted to welcome Phil Jerky back to RAREfest in our 2024 Friday night programme ‘Strictly Rare’ on the 22nd of November 2024. Be prepared for the honest, the witty, and the unafraid to tackle the uncomfortable. Through his comedy, Phil has shown that laughter is not just about joy; it’s about resilience, connection, and the unyielding human spirit. In a world that can often be overwhelming, Phil Jerky’s story is a reminder that no matter what life throws at us, there’s always room for a joke – and sometimes, that joke is the thing that keeps us going.

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Learning from the Rare Disease Community: Enhancing Facial Recognition AI Technologies for Improved Accuracy in Identifying Individuals with Facial Deformities

Learning from the Rare Disease Community: Enhancing Facial Recognition AI Technologies for Improved Accuracy in Identifying Individuals with Facial Deformities

by | Sep 18, 2023 | Uncategorized, Artificial Intelligence, Community, Raising awareness, RAREsummit, Technology

Facial recognition technology has made significant advancements in recent years, transforming various industries and enabling efficient identification and authentication processes. However, one area where these technologies often fall short is accurately recognising individuals with facial deformities. This limitation has profound implications for people with facial deformities, who may experience challenges in accessing services, completing job applications, security checkpoints, and even social interactions. This blog explores how artificial intelligence (AI) could play a pivotal role in improving facial recognition technologies to accurately identify individuals with facial deformities.

 

Understanding the challenges

Facial deformities encompass a wide range of conditions, including craniofacial anomalies, burns, scars, birth defects, and other facial irregularities due to rare diseases. These conditions can significantly alter an individual’s facial features, making it difficult for conventional facial recognition systems to identify them accurately. Traditional algorithms are often trained on databases that primarily consist of images of individuals with typical facial appearances, resulting in biased models that struggle to recognise those with facial deformities. Amit Ghose, an Asian male born with Neurofibromatosis Type 1 (NF1) resulting in facial deformities, knows only too well the issues with AI and facial recognition:

“I feel that that AI is quite discriminatory. And someone who lacks confidence or someone who is insecure about their appearance already, to have that lack of facial recognition and rejection could be quite detrimental to their already lack of confidence that they have.”

Amit was determined to find out if AI could be improved to help in specific uses such as security at airports. His initial research highlighted that the solution seemed to be to bypass the system, and for those individuals not recognised, they would be escorted manually.  For Amit, this felt wrong.

“You can imagine if you’ve got a queue behind you, how humiliated you could feel if the system was still rejecting you. Now, how is that solution just to let people bypass a security feature?”

Amit Ghose

Motivational speaker, coach

The Role of AI in Improving Accuracy

Artificial intelligence offers promising solutions to address facial recognition technologies’ limitations when identifying individuals with facial deformities. By leveraging algorithms and advanced machine learning techniques, there is a very real opportunity to drive positive change for inclusivity. And that approach has to include partnership working with those communities that would benefit, as Amit suggests:

“The solution should be that you work with us to enhance the software and the application. You need to work with us to understand and raise awareness of the issues we face. So software companies, you guys need to do something.”

 

Amit suggests a call to action could include the following:

 

  • Diverse and Inclusive Training Data: To overcome the bias in training data, AI algorithms should be trained on more diverse datasets that include images of individuals with various facial deformities. Collecting and curating extensive databases with labeled images of individuals with facial anomalies can significantly improve the accuracy and reliability of facial recognition systems for this population.
  • Transfer Learning: Transfer learning enables the application of pre-trained models that have been trained on large-scale datasets, such as general facial recognition databases. These models can be fine-tuned using smaller, specialised datasets of individuals with facial deformities. By building upon the existing knowledge of facial features, transfer learning can improve the accuracy of recognition for individuals with facial anomalies.
  • 3D Facial Recognition: Conventional facial recognition systems primarily rely on 2D images, which may struggle to accurately capture and identify unique facial characteristics in individuals with deformities. 3D facial recognition, utilising depth-sensing cameras or other technologies, can capture the three-dimensional structure of a face, including subtle details. AI algorithms can then be trained to process this data and recognise individuals with greater accuracy, even in the presence of facial deformities.
  • Facial Landmark Detection: AI algorithms can be employed to detect facial landmarks, such as the position of the eyes, nose, and mouth, in individuals with facial deformities. By accurately identifying these key points, algorithms can normalise the facial images, compensating for deformities and making recognition more reliable.
  • Adaptive Algorithms: AI-powered facial recognition systems should employ adaptive algorithms that continuously learn and adapt to the unique facial features of individuals with deformities. This adaptive approach would allow the system to refine its recognition capabilities over time, enhancing accuracy and reducing false negatives.
  • Ethical Considerations: As with any AI application, there are important ethical considerations when it comes to facial recognition technologies for individuals with facial deformities. The utmost care must be taken to ensure privacy, data security, and protection against potential misuse or discrimination. Transparent data collection and model development processes, as well as ongoing audits, can help address these concerns and ensure that the technology is used in an ethical and responsible manner.

 

A future with AI

Facial recognition technologies hold immense potential to improve the lives of individuals with facial deformities by enabling accurate identification and access to various services. By harnessing the power of AI, through diverse training data, transfer learning, 3D recognition, facial landmark detection, and adaptive algorithms, we can overcome the limitations of current systems.

However, it is crucial to approach the development and deployment of these technologies with a deep commitment to inclusivity, fairness, and privacy. And to work closely with organisations, networks and individuals like Amit who experience and understand the challenges and wish to support AI technologies to develop and recognise them. With continued advancements and ethical considerations, AI can revolutionise facial recognition, providing a more equitable and accessible future for individuals with facial deformities.

“I think when it comes to educating everyone about how to deal with people with visible differences and also with rare diseases is where you can, as much as you can, try and treat them with that dignity, that they are normal and normalise everything.”

Amit Ghose

Motivational speaker, coach

We throw down the gauntlet to those working with AI to come and join us at RARESummit23. Amit will join us, alongside a wealth of diverse speakers, set to delve into the rare disease communities’ most pressing questions, scientific advances, and wishes for the future.

 

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I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

by | Sep 6, 2023 | Community, Raising awareness, RAREsummit

Can you imagine being a young, ambitious, deafblind scientist with a small handful of rare diseases and being passionate about disability advocacy, determined to make your mark in the competitive world of Science, Technology, Engineering, and Mathematics (STEM)? Then, meet Max, who is doing exactly that. This is the inspiring story of Max Fisher, who faces extraordinary challenges in their pursuit of a career in the STEM industry. Max is a cell line engineer at Revvity and co-lead of their new Disability Employee Resource Group.

 

Max Fisher

Max is DeafBlind, has Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Visual Snow Syndrome, and Cold Urticaria. Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that causes chronic pain and joint dislocations. Postural Orthostatic Tachycardia Syndrome is a neurological condition that affects Max’s heart and causes fainting, tachycardia, and palpitations. Cold Urticaria means Max is allergic to the cold- touching cold causes hives, and breathing cold air causes Max’s airway to swell up. Visual Snow Syndrome causes TV static across their entire vision, as well as light sensitivity, night blindness, and afterimages. Max is also deaf.

Max’s journey as a young deafblind disabled scientist is filled with barriers and prejudices, yet it also showcases the resilience, tenacity, and determination required to break through these obstacles and make a profound impact on the scientific community.

Image shows a person in a light brown shirt with teal slick back hair and tinted glasses from the shoulders up. They are smiling.

“I am a DeafBlind and Disabled Scientist, and I advocate for people like me with rare diseases in STEM. Life with a rare disease in STEM has been difficult. From university employment teams telling me I’d never make it into a lab, to industry assuming I can’t get into the building. In fact, my disabilities make me a better scientist, and make me better at adapting to a changing situation than others.”

Understanding the Rare Disability

Before delving into the challenges faced by this remarkable scientist, who studied Pharmacology at University, it is essential to understand the unique nature of their disability. Being both deaf and visually impaired alongside rare disease complications means that Max is presented with a set of obstacles that few can comprehend. 

As Max indicates: there is such a stigma around disability that it kept them unemployed for 3 and a half years. For 7 and a half years- throughout their undergraduate degree, postgraduate degree, and unemployment, they were told that they could not be a scientist because they are disabled. But, in their words, they are the phenomenal scientist they are because they are disabled.

Limited Job Opportunities

Despite possessing a brilliant mind and strong scientific acumen, Max notes that finding limited job opportunities in the STEM industry is normal. It took Max over three years of unemployment to realise that the issue did not lie with Max but with employers who overlooked Max’s capabilities due to preconceived notions about the capabilities of people with disabilities, especially those with multiple sensory impairments. The competitive nature of the job market compounds this issue further. Max knows this only too well:

“In an interview, everything was going well. They asked me about team working skills and leadership skills, and I talked about being a wheelchair basketball coach… “wheelchair…? basketball?” interview terminated as they “had everything they needed.”

 

Max Fisher is standing in a white lab coat alongside two colleagues. they are stood at a table presenting their science to guests of RAREfest22.

Attitudes and Prejudices

One of the most significant challenges faced by any young disabled scientist is combating the attitudes and prejudices prevalent in society. Many people hold misconceptions about the capabilities of disabled people, assuming they cannot perform at the same level as their non-disabled peers. Max is frustrated that people have closed minds, jump to conclusions and do not listen. These prejudices can result in subtle discrimination, intentional or not, which impacts confidence and self-esteem:

“I’ve actually been accused of faking/exaggerating my visual impairment because “clearly you can see if you’re a scientist, it can’t be that bad, you can’t be blind,” which comes from a fundamental misunderstanding of what deafblindness is and what visual impairment is. Similarly, deafness is for the people who say, “but we’re talking now“. I’ve experienced these prejudices in the medical field, too. I’ve been diagnosed with Cold Urticaria TWICE because “it’s so rare, you can’t have it”.

 

Overcoming Challenges

Despite the myriad of challenges, Max is not one to be easily deterred. Their journey is a testament to the resilience and strength of character that can be found in the face of adversity. Here are some ways Max has overcome the obstacles:

Advocacy and Awareness

Max has become an advocate for themselves and others with disabilities. They actively work towards raising awareness about the capabilities of disabled individuals and the need for more inclusive practices in the STEM industry. Educating others about their challenges and strengths breaks stereotypes and promotes understanding. As Max demonstrated when they first joined Revvity:

“You know, deaf people like me are everywhere. So when I started, I made a deaf awareness week newsletter that went out to the local site. As I was new, I didn’t want people to think that I was ignoring them. And I had so many people come up and say to me ‘I have hearing loss too’ or ‘I know someone with hearing loss and they really struggle with their confidence’. And I was able to have a discussion with them and reassure them that it’s totally normal. Hearing aids are normal. Tinted lenses are normal. Wheelchairs are normal. It’s all normal.”

Accessibility and Facilities

Max embraces cutting-edge adaptive technologies and develops personalised strategies to overcome the barriers they face. Moreover, the STEM industry often lacks adequate accessibility and accommodation for individuals with disabilities. Laboratories, research facilities, and workplaces may not be designed with the specific needs of deafblind and disabled scientists in mind. Simple tasks such as accessing laboratory equipment, conducting experiments, or interpreting data graphs become challenging without appropriate adjustments. Max collaborates with their labmates and the facilities team, who are very supportive.

Supportive Networks

Building a network of supportive mentors, peers, and colleagues plays a vital role in the success of Max. Supportive individuals who recognise their potential and provide encouragement help them navigate the challenges and keep their aspirations alive. As a Co-Lead for Revvity’s Disability Employee Resource Group, Max is able to drive positive change: 

“And I’m in an incredibly privileged position that I am a co-lead of our new Disability Employee Resource Group. So I have a voice where I can highlight inaccessibility in all walks of STEM, for example visually accessible slide decks. They’re fully on board, and full of encouragement. ‘Sounds awesome! Make it!’. So I made it.”

Perseverance and Determination

Max’s journey is fuelled by unwavering determination and perseverance. They do not allow setbacks to define their path, using each challenge as an opportunity to grow and learn. Max’s passion and drive enable Max to continue pushing boundaries and exceeding expectations. The final words rest with Max:

“Disabled people CAN. Just be open minded. Being disabled makes me a great scientist, and a great employee. Especially in STEM. We look at standard deviations all the time. You have to have a deviation before you can have a standard.  I want people to not panic when faced with a disabled person because we’re really cool, and we bring so much to everything we do. I don’t wish that I wasn’t disabled, because I wouldn’t get to do all this cool stuff on top of everything else. It’s awesome! Being a scientist is cool, but being a disabled scientist is cooler.”

You can learn more about Max and their perspective on navigating their youth as a disabled scientist at RARESummit23, where they will be accompanied by an expert Youth Panel.

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Embracing Resilience – The Journey of an Asian Male Living with Neurofibromatosis Type 1 and Facial Deformities

Embracing Resilience – The Journey of an Asian Male Living with Neurofibromatosis Type 1 and Facial Deformities

by | Aug 10, 2023 | Patient experience, Raising awareness, RAREsummit

Life’s challenges come in many forms, and for some, the journey is exceptionally arduous. For Amit, an Asian male born with Neurofibromatosis Type 1 (NF1) and facial deformities, navigating childhood, adolescence, and adulthood was and is an emotional rollercoaster. This blog delves into the struggles and triumphs of a young man who has faced adversity with courage, resilience, and the determination to find acceptance and beauty in uniqueness.

 

As Amit states: “If there was better representation in the media, on social media, films (think of all the villains with facial deformities) and TV, I think that acceptance would be far greater than it is today. It’s going to take time for the people who have visible conditions and rare diseases to learn to accept who they are, embrace who they are, and celebrate who they are before we can expect others to accept us and others to give us time and appreciation. We need to do a bit of self-love, a bit of self-acceptance.”

“I hope we do get the acceptance and it’s not going to come overnight. It’s going to take time from both parties. It needs greater acceptance from society.”

Amit Ghose

Motivational speaker, coach

Living with Neurofibromatosis Type 1

Neurofibromatosis Type 1 is a genetic disorder that causes tumors to form on nerve tissue. While the severity of NF1 can vary significantly from person to person, facial deformities are not uncommon. As a child, Amit’s family began to notice these physical differences, which set him apart from his peers. He was just two years old when he was diagnosed and his father brought him to the UK in the hope of finding better treatment. Growing up, he faced challenges that most of us couldn’t fathom.

 

Childhood struggles

The early years were marked by innocent questions from classmates, curious stares, and insensitive remarks that left deep emotional scars. Finding acceptance in a world that often values appearance over substance was an uphill battle.

 

The bullying and social isolation

Throughout school, Amit endured bullying and ridicule, making him feel like an outsider. Social acceptance was a significant worry, and Amit dreaded going to school each day. The pain of being ostracised for something beyond his control was deeply distressing. He sought refuge in solitude, retreating from social interactions to avoid further hurt. The desire to fit in became a distant dream, and the search for authentic connections seemed almost impossible.

Going to school was challenging. The only friend I had was the support teacher because a lot of people didn’t want to be friends with me. She’s actually now a family friend. So whenever I meet her, we, we have these conversations, and you know, she told me the other day that there were many occasions we would just sit at lunch and I’d try and go out and, you know, I just couldn’t, I couldn’t integrate with other children. A lot of people were scared, a lot of people were worried they’d catch what I’d got. A lot of people didn’t want to be friends with me because they thought the cooler kids in the classroom wouldn’t want to be their friends if they were friends with me.

As the NF1 progressed, so did the physical differences, making everyday interactions even more challenging. At the age of 11, in year seven, I was told that my eye needed to be removed. You know, it’s a pretty daunting matter. And to digest that psychologically was a huge thing for me. Especially because I knew after I’d had the eye removed, I wouldn’t have the prosthesis for at least a year. So I’d be wearing an eye patch and going into school, wearing an eye patch, and that was daunting. Challenging, so that was a very difficult period when they removed the eye.

“I made a TikTok video, sharing my story, talking about my condition, talking about helping and inspiring people. And now 45 days after launch I have some 52,000 people following me. I never thought that would happen. But there’s a lot of people following and there’s a lot of schools now coming out to me and saying, can you come to our school? So it’s all about the education of school children, parents, friends, and society to reduce stigma and isolation. I think together we can make differences, positive differences, positive impacts, and my mission is to normalise visible differences.”

Amit Ghose

Motivational speaker, coach

Image depicts an asian gentleman with a beard and dark hair, and facial deformities particularly to the left side of his face. He is wearing a white jumper and blue blazer jacket.

Family support and coping mechanisms

Amidst the hardships, Amit found solace and strength in his family’s unwavering support and love. Their unconditional acceptance played a pivotal role in bolstering his resilience. Additionally, he discovered coping mechanisms like sports that allowed him to express himself freely and embrace his uniqueness. 

“I remember my dad was one of the biggest contributed factors of my confidence. The way my dad and my family brought me up, my dad never made me realise that I even have a condition. The way he dealt with me was completely as if I was just one of the other siblings. And that really helped the mentality of normalizing things for me.”

 

Overcoming obstacles

As he entered adolescence, Amit chose to confront the challenges head-on. He sought other ways to address the emotional toll of living with facial deformities, which proved instrumental in boosting his self-esteem. Slowly, he began to build a sense of self-worth, recognising that his value extended far beyond physical appearance. “The turning point, I think, was when I started accepting who I was, and I started, you know, realising unconsciously that, you know, I can’t really change who I am, and I can’t change the way I look, and the condition I have, but what I can do is try and be who I am.

So, I started playing cricket. I joined the cricket club, and suddenly, I went from the guy who has this rare disease guy who plays cricket. It’s that shift in people’s mentality and people’s perceptions about people who have diseases that you are not the disease. I’m not only recognised as Amit, the guy with the neurofibromosis, or Amit, the guy with NF, that one. I’d rather be recognised as Amit, the guy who plays cricket, or now Amit, the guy who’s going on trying to raise awareness and trying to help support, inspire people around the world about this subject.”

Amit’s condition is hereditary, and he has a fifty percent chance of passing it on. This brought further challenges from the Asian community. “So when I was at the age of getting married, a lot of people in in the community were saying, who would give their daughter to him? Somebody even came up to me and said, oh, put yourself in the shoes of a father. Do you want your daughter to marry someone who’s got a condition like yours? It’s unbelievable that someone can say that to you straight to your face. Then I met my wife, and when we moved into the dating phase, her family was completely against us getting married. One of the biggest reasons for that was how will the children turn out?

So now Amit and his wife are on a new journey, working with the genetic consultants to see if they can mitigate the genetic risks of passing down the faulty genes and how or if they can be removed in pregnancy. This in itself has opened up questions for Amit and his wife. Amit, in particular.

“Ultimately, it came down to do I want my child to go through what I’ve been through? And the answer is no. But as with all things in my life, it puts a huge mental strain on me, but we are now in this phase where we’re considering our options, we’re talking to specialists, and seeing what could be done.”

 

Image shows a young asian male with facial deformities in blue jeans and a graphic tee standing in his childhood home.

Advocacy and Empowerment

As an adult, Amit transformed his struggles into a platform for advocacy and empowerment. He has now become an active voice within the NF1 community, educating others about the condition and promoting awareness about facial differences. By sharing his story, he aims to inspire those facing similar challenges and eradicate misconceptions surrounding facial deformities. Reflecting back on his school days, Amit believes that:

“You know, I felt like I had two choices in life. I could either sit back and feel sorry for myself or I could get up and be who I am. So the journey from when I had the eye removed, the eye patch, the name calling, the bullying, you know, going into school, being called Captain Hook, Popeye, the sailor man. All these names that still come back to and haunt me sometimes was really depressing and really, really upsetting. I tried to use my personality. I try to say to myself, accept who you are. Embrace who you are, celebrate who you are, and go out and be yourself.”

Rather than succumbing to the societal pressure to conform, Amit has chosen to redefine facial deformity on his own terms. He challenges conventional beauty standards, emphasising that true beauty lies in accepting and embracing individuality and diversity. Through his advocacy work, he hopes to foster a more inclusive society that celebrates differences rather than stigmatising them.

Embracing individuality

The journey of an Asian male growing up and living with Neurofibromatosis Type 1 and facial deformities is a testament to the indomitable human spirit. While the path was fraught with challenges, Amit’s resilience and determination allows him to rise above adversity. By embracing his uniqueness and advocating for awareness, he has become an inspiration to many, proving that true beauty emanates from within. Through his story, we learn that by accepting and celebrating our differences, we can foster a world that embraces and uplifts every individual, regardless of their appearance.

 Come and meet Amit at RAREsummitt23!

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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 14
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 15

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 16
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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