Join CamRARE online on 15 July, to delve into the detail of the MHRA’s proposed new framework, designed to help accelerate treatments and therapies for rare conditions.
A New Framework for Accelerating Rare Disease Treatments
The traditional method for developing medicines requires a large number of people to take part in clinical trials. This process just doesn’t work for most rare conditions, where there are few patients with each condition. As a result, only 5%, of the 10,000 rare conditions that we currently know of, have an approved treatment.
The MHRA (Medicines and Healthcare Products Regulatory Agency) is the government body who approve new treatments and therapies in the UK, and in order to address the challenge that developers have in gathering enough evidence to approve new treatments for rare conditions, they have drafted a new framework designed to help create a more appropriate process for conditions with smaller numbers of people.
The Big Idea: The Investigational Marketing Authorisation (IMA)
At the heart of their proposal is a new type of approval called the IMA. Currently, running a clinical trial and getting permission to supply a medicine are two separate, often long, steps. The IMA combines them into one process.
Under this new route, a promising treatment can be given to patients and studied at the same time. Instead of waiting years for a final “yes” or “no,” the MHRA will review the evidence continuously. This means people could access life-changing therapies much earlier, while regulators keep a close watch on safety and effectiveness.
Patients as Partners
One of the most important parts of this framework is that patients are treated as partners, not an afterthought. This means:
Ongoing Consent: Your agreement to take part is treated as a continuous conversation, not just a single signature. As new information about a treatment’s risks or benefits emerges, you are kept informed.
Your Priorities Matter: When judging if a treatment works, the MHRA will look at whether a therapy impacts your quality of life and personal experience, not just lab results.
Direct Involvement: Patient organisations will be involved throughout the entire process.
Is “Faster” Safe?
The MHRA emphasises that faster access will not mean lower standards. Because evidence is still being gathered while you use the medicine, safety will be watched the entire time.
Every treatment will have a Clinical Monitoring Plan to track how well it works and catch any issues quickly. If the evidence eventually shows the treatment isn’t safe or effective, the MHRA can restrict or withdraw it immediately.
Treatments entering the IMA process will also be subject to independent ethics reviews, as they would be under a traditional clinical trial, to ensure patients are protected and treated fairly.
Gathering Evidence Differently
Because rare disease patient groups are small, the MHRA will use “flexible” evidence. This includes real-world evidence (data from your everyday medical care) and smart computer models to assess if a medicine works, without needing thousands of trial participants.
What comes after the IMA (Investigational Marketing Authorisation)?
Approval is only the first step; you also need to be able to access the medicine through the NHS. The MHRA is planning to work closely with NICE (National Institute for Health and Care Excellence) and NHS England to ensure that once a medicine is approved, the funding and rollout happen smoothly.
This framework is currently a draft, and the MHRA wants to hear from you!
The document is quite a heavy read, so CamRARE are holding a workshop on 15 July to delve in and ask some of the big questions:
Does it protect patients well enough?
Is consent meaningful and genuinely ongoing?
Will access to treatments really be faster?
Is the safety monitoring strong enough to reassure you?
The workshop will run at 3 different times throughout the day (morning, lunchtime or evening) where we’ll look through the main priorities and challenges addressed in the framework, ask the big questions and hear from each other about our thoughts.
CamRARE will be submitting a group response to the MHRA consultation based on the feedback we gather at the workshops, but remember you can also submit a response from your organisation, patient group or your personal perspective. The more feedback the better to make the guidance the best it can be!
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.
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.
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.
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.
Challenges, strategies and insights for supporting mental health while living with a rare condition
Living with a rare condition, or caring for someone who does, can take a profound toll on mental wellbeing. While healthcare systems tend to prioritise diagnosis and physical symptoms, emotional health is frequently left unsupported. At RAREsummit25, this gap was explored from two complementary angles: a panel discussion grounded in lived experience and a workshop examining social listening as a way to capture community-wide insights. Together, they offered a compelling picture of what mental wellbeing means in rare disease and how it could be better supported.
Watch the full panel session on our YouTube channel.
Lived experience: mental health as part of everyday survival
The panel session “Navigating Mental Wellbeing” chaired by CamRARE trustee Loretta MacInnes, brought together Tom Staniford, Kelly Kearley, and Max Fisher. Despite their different backgrounds, as a marketeer and rare disease patient, a parent and counsellor, and a scientist living with multiple rare conditions, their reflections strongly aligned.
A central theme was that mental and physical health cannot be separated. Tom, who lives with the ultra-rare MDP syndrome, described how focusing on managing symptoms, rather than waiting for a definitive diagnosis, gave him a sense of control and stability. While he acknowledged this approach will not work for everyone, it highlighted how practical support can meaningfully reduce distress.
I fear that sometimes we prioritise the diagnosis rather than the treatment, when quality of life could be improved by addressing symptoms we can treat.
Tom Staniford
Kelly spoke powerfully about the emotional impact of her son’s diagnosis with PTEN syndrome. The grief she experienced was not about losing her child, but about losing the future she had imagined. The absence of appropriate mental health support contributed to years of depression and ultimately motivated her to retrain as a psychotherapeutic counsellor, specialising in rare disease and disability at Mind Over Matter Therapy.
I didn’t lose my child, but I grieved for the life I thought he was going to have.
Kelly Kearley
Max reflected on their own mental health journey, emphasising that wellbeing is not about constant happiness, but about coping without being overwhelmed. They also highlighted the role of intersectionality, noting that mental health support often fails when different aspects of your identity are treated in isolation.
Sometimes living with the rarity is the hardest part, not the specific rare disease itself.
Max Fisher
Across the panel, there was clear agreement that mental health support is rarely offered proactively. Patients and carers must often ask, and fight, for help, at times when they have the least capacity to do so.
The panel called for a more holistic, empathetic, and flexible approach, with mental wellbeing embedded into rare disease care from the point of diagnosis.
Listening at scale: insights from social listening research
RAREsummit25 also featured a workshop exploring mental wellbeing through social listening, facilitated by Lauren Roberts from Rareminds. Social listening is a method of analysing online conversations to understand people’s thoughts and experiences, particularly around sensitive topics like mental health.
A recent Rareminds project analysed over 54,000 public social media posts related to rare conditions and mental wellbeing. Key themes included uncertainty, diagnostic challenges, social strain, and emotional distress, such as grief, anxiety, caregiver exhaustion, isolation, and suicidal ideation – closely mirroring the panel’s lived experiences.
The workshop highlighted both the opportunities and challenges of social listening. While issues such as data authenticity, representativeness, privacy and safeguarding were widely acknowledged as requiring careful management, the approach offers powerful potential: amplifying patient voices, informing research and policy, supporting understanding of real life issues, and deepening insight into what quality of life truly means.
Watch Lauren’s testimonial video on our YouTube channel.
A shared message: listen, integrate, and act
Together, the panel and workshop delivered a unified message. Mental health is more significantly impacted in people with rare conditions than the general population, yet remains inconsistently supported.
Meaningful change will require better listening, more integrated care, and a commitment to treating emotional wellbeing as essential, not optional, within a holistic approach to rare disease support.
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.
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.
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.
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
Cell and gene therapies transform the rare disease horizon. They hold the power to transform patient’s lives. Are we ready to deliver Advanced Therapies? Sheela Upadhyaya is an independent rare disease consultant who has eighteen years of experience in the rare disease arena. She discusses the challenges and opportunities involved, expressing that collaboration is the key to helping deliver them synergistically.
Sheela Upadhyaya
Sheela Upadhyaya, an Independent Rare Disease Consultant, spends her days liaising with all parties that form the rare disease arena. She has had exposure to every nook of the rare disease community from patients and their supporting organisations, highly skilled clinicians, policymakers, and pharmaceutical companies. Her mission involves anything and everything which supports and cares for those with rare diseases, aiming to better their lives.
Sheela is immensely equipped for this endeavour, having worn many hats. She has spent the last twenty-five years in the life sciences industry. Her journey into the rare disease community came to fruition by fluke when she applied to work a role commissioning rare disease service, primarily in Genetics and Metabolic, for the NHS. Sheela then moved on to lead the NICE Highly Specialised Technology Programme at NICE. The programme evaluates medicines and technologies for very rare conditions. Sheela was also instrumental in delivering a strategic response for NICE against the Rare Disease Framework.
Sheela quickly learned that rare diseases are immensely underserved, recognising a real need for listening to the needs of rare disease patients and their lived experiences. This need for empathy, transparency, and uniting perspectives inspired her to continue championing the rare disease community, to which she has now contributed for the last eighteen years.
“I pride myself in listening as much as I can to the needs of patients, their supporters, carers, and family members, so I can reflect that back in what I aim to deliver. But part of my role is also explaining why some things can’t happen.”
The Advancement of Rare Disease Therapies
Throughout her time working with the rare disease community, Sheela has witnessed the evolution of Advanced Therapies, or advanced therapeutics, which hold the power to transform the rare disease horizon. Advanced Therapies include interventions such as cell or gene therapies, which alter the molecular makeup of those with rare diseases, changing the expression or course of their condition. They focus on correcting the root cause of the disease as opposed to treating the symptoms. For many with rare diseases, they can transform what this means for day-to-day life and their future.
In the last five years, collaborative teams have made huge advances in innovating and successfully delivering these treatments to the rare diseases community. 2022 was a landmark year for such interventions, with Upstaza for AADC deficiency and Roctavian for Haemophilia A making their way into healthcare provisions. However, as the gene therapy field continues to advance, significant challenges remain, from their safety and efficacy to their accessibility and the suite of logistical considerations involved in their delivery to their recipients.
The healthcare system isn’t always ready to receive new therapies with complex storage, staffing, and infrastructural issues which may be unique to every new treatment, at each step. The healthcare system must shift and adapt to this each time, which is a huge challenge.
“To give an analogy concerning a single issue, storage: how many fridges is a hospital expected to have for each of these therapies, which may each have different storage requirements, which might only be for one or two patients?”
Collaborating for Successful Delivery
Though gene and cell therapies have become available to small, select groups of rare disease patients, 95% of rare diseases still have no therapies available to them. Sheela highlights how meaningful collaboration with patients is instrumental to developing new therapies and setting realistic expectations for how and why pre-existing therapies are delayed, aren’t widely accessible, or are not affordable. In short, “it is not as easy as it sounds, despite many parties with the same good intentions working really hard to deliver them for patients.”
As options for Advanced Therapies develop, the pertinence of these pressing challenges expands with them. Sheela expressed how collaboration between all stakeholders is necessary:
“For example, in returning to the fridge analogy, it is essential for pharmaceutical developers and manufacturers to consider the relevant infrastructural considerations. Without this approach, it would create unnecessary inefficiency in a healthcare system that strives to be as efficient as possible and whose efficiency is instrumental in delivering successful patient care. It goes both ways – those managing healthcare provisions must be open-minded in accommodating novel delivery approaches, which may change the status quo of how things have been done.”
For patients, Sheela describes how collaboration and transparency in raising the conversation about the stark challenges in implementing advanced therapies are essential for helping patients and their supporters orient themselves through layers of decision-making, the impact on their lived experience with their condition, and how they feel about these prospects.
Bringing Stakeholders Together
At Raresummit23, Sheela, alongside CamRARE Trustee, Emma Green, will host a panel discussion on Advanced Therapies, particularly navigating challenges and fostering collaboration for patient access. It is rare to see all stakeholders in a project represented, more so sat in physical proximity. The panel brings together an impressive wealth of experience and expertise which reflect the complex journey of Advanced Therapies’ innovation, development, delivery, and application. The panel allows for candidly discussing challenges with transparency, combining multi-stakeholder perspectives, and providing the most holistic approach to improving patient outcomes.
As Sheela knows too well, the science of Advanced Therapies is incredibly exciting, especially for patients. Collaboration is the key to helping deliver them synergistically:
“The hope is that anyone interested will leave with a better understanding of the layers of complexity: from innovation to pre-treatment activities, to their delivery in a healthcare setting, to post-treatment care. Each panel member will bring their own nuggets of insight and education we’ve not heard before.”
“While we should celebrate that progress is being made to deliver these important medicines to patients, we acknowledge that there are still challenges in the journey ahead. Our objective is to foster collaboration, raise awareness of the complexities, and pave the way for a future where patient access to Advanced Therapies is seamless, equitable, and life-changing.”
Emma Green
Trustee, CamRARE
Join Sheela, Emma, and the panel for this dynamic discussion at RARESummit23. They are solving challenges through collaboration.
Spotlight on how we can create positive industry and patient group partnerships
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.
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.”
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.”
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 talkto 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 collaborativeUNRAVEL 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.
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.
Jo Balfour is managing director and a founding member of Cambridge Rare Disease Network (CamRARE), a charity that brings together stakeholders from research, industry, business, healthcare and patient advocacy groups making a real difference in the lives of people living with rare diseases. Jo manages the overall operations of the charity, including their diverse events programme – RAREfest and RAREsummit, networking and educational events. She has 25 years’ of previous experience in secondary teaching, specialising in the field of special educational needs and children in care.
Jo Balfour
“Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.”
Getting into teaching children with special educational needs and disabilities
Following a baptism of fire in an all boy’s comprehensive school in Liverpool, I moved to London. Teaching there was a turbulent and life-changing time working in a vibrant but challenging inner city school. It was here that my path into specials needs education was carved.
I went on to manage the special educational needs and disabilities (SEND) department in schools in London and Cambridgeshire before becoming an advisory teacher for children in care in 2003.
My move into special educational needs teaching was within a mainstream school environment. I worked with many young people who struggled with this environment and was inspired by the specialist teachers I worked alongside in London who were able to differentiate, be adaptable, empathetic and creative to find ways of engaging all young people, irrespective of their learning or physical challenges.
I wanted to be able to help all young people find their place in the world and take part fully in a way that worked for them. Often it is the world around the child that is the barrier to them being fully enabled.
In 2015 I became a founding member of the Cambridge Rare Disease Network (CamRARE), a passionate group of people intent on pulling together the disparate parts of an emerging rare disease research and therapeutic community within Cambridge’s science parks, the Biomedical Campus at Addenbrookes and the universities.
I was part of a team who held the first CamRARE summit at Cambridge Judge Business School where we packed the room with experts and the curious to hear from rare disease pioneers from around the world.
Over the following five years I gradually devoted more time to the charity, creating and delivering their diverse events programme and establishing the UK’s first regional children and family’s group for those affected by any rare disease, Unique Feet. I took up the role of managing director of the charity a year ago following the retirement of our CEO, the inspiring Kay Parkinson, who lost both of her children to Alström Syndrome.
Supporting those with rare diseases
CamRARE has three main areas of focus: raising awareness; promoting cross-sector collaboration; and supporting families.
To raise awareness and promote collaboration, we have developed a diverse events programme including our RAREsummit and Companies Forum which cater for the key stakeholders in rare diseases – the patients, patients advocacy groups, healthcare professionals, established and start-up pharmaceutical and biotech companies, researchers and policy-makers.
These events showcase emerging science, technology and advocacy and provide interactive opportunities for debate, networking and nurturing alliances.
We also deliver collaborative events with other organisations to reach audiences that are vital to making a difference, but more difficult to engage, and we take part in and deliver a broad range of public-friendly events to make sure rare disease is firmly embedded in more mainstream agendas.
Our Unique Feet community group is at the heart of all we do. This is a flourishing community of families affected by a wide range of rare conditions. Many will never meet another person with the same disease and their rare disease journey can be a lonely and torturous one, often plagued by the lack of a diagnosis, misdiagnosis, few available treatments and support.
We support the group to do fun activities together which are accessible, whatever their learning or physical needs. They have so many similar experiences, irrespective of their condition that they really feel they have found their tribe. The families are a passionate collective voice for rare disease in our community, speaking at events, engaging with the media, serving as trustees and advocating whenever they can.
Creative thinking, inspiring and cajoling, forensic planning, juggling and management
I rarely have two days the same and couldn’t begin to list the vast range of roles I undertake and tasks I do.
A significant part of my time is spent creating and delivering events of some description. This generally follows a linear path of creative thinking, inspiring and cajoling, forensic planning, juggling and management. We pride ourselves on being innovative and tackling problems in ways that others aren’t, on a shoestring, with a tiny core team.
The inspiring and cajoling aspect of my work is essential to persuade the right people to take part as speakers, exhibitors and volunteers, to engage experts and companies to help us with aspects of the work pro-bono, to encourage sponsors to fund our events and to inspire people to attend. I spend a lot of time building relationships with others and making them feel part of the team.
The forensic planning involves everything from developing social media schedules to managing budgets, creating marketing plans and maintaining immaculate logistics to ensure the events run smoothly. And management is a case of keeping my virtual team motivated, inspired and in tune and time with each other whilst keeping tabs on an army of volunteers.
I also take time to engage with our Unique Feet group whenever I can and help with the planning of their activities and applying for grants to fund these.
More recently our connections have been virtually through our WhatsApp group, socially distanced visits to a beautiful garden that has opened just for us, as well as regular Zoom activities including yoga and wine bar night! We’ve just started creating a virtual dance performance for our upcoming event RAREfest20 so I’m turning my hand to some filming and editing too.
It’s important to not be afraid of turning your hand to anything that’s needed in a small charity. It’s incredible just how much you can learn to do if you’re prepared to give it a go.
#RAREfest20
RAREfest20 is very much a public-facing event, a full-day festival featuring fascinating talks, a gallery of art, patient journey posters and film, some games and challenges and interactive exhibits showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases.
The event is free and there is content for children and families, the experts and the curious. Everyone’s welcome!
Despite our plans to hold this event at the historic Guildhall in Cambridge, we’ve found an all singing all dancing virtual platform to try and emulate that festival feel. The aim of the festival is to kindle curiosity about rare disease, to educate the public and help dispel myths.
In 2018 we had 1000 attendees over two days and this year we hope to reach an even wider and more diverse audience from around the world.
The challenges people with rare diseases need to face
Those living with rare diseases were already struggling with delayed diagnosis, few treatments and uncertain care pathways. We call them ‘rare’ because each disease, individually, often affects only a few people.
However, there are more than 8,000 rare diseases, probably more as many remain undiagnosed their entire lives, so are collectively common. With 1 in 17 people affected, around 3.5 million in the UK and 350 million people worldwide, they have a global prevalence similar to asthma.
But the small numbers affected by each disease mean they struggle to attract attention, funding for research and interest from pharma companies. Only 5% of all rare conditions have an authorised treatment and many affected children don’t survive until five years of age. This fragile ecosystem has been shattered further due to COVID-19 and the global response to it. Patients have gone undiagnosed as genomics clinics closed and health professionals were redeployed.
Many who rely on carers coming into their homes or on external support such as physiotherapy have seen their services and support networks halted. For those taking part in clinical trials and those running them, the inability to travel to and visit trial centres or recruit patients or redeployment of their teams, has led to trials being paused. Even orphan drugs awaiting approval from regulators have been deprioritised.
Many families were directed to shield by the government and have continued to do so leaving them isolated and disconnected.
Keeping the community connected
We took all of our community activities online as soon as lockdown began providing yoga and catch up sessions to keep families connected. Our WhatsApp group chat became a great resource where mums shared experiences, ideas and tactics to get through shielding. The camaraderie was wonderful!
We received some COVID-19 emergency funding to support this and to enable us to make up and deliver activity bundles to each family once a month. We helped some to get online shopping slots and delivered shopping to others. It was a great team effort and I got as much from the community as they got from us.
During April I was fortunate to work with a team of six Cambridge University PhD students and we used our lockdown time wisely to undertake a five-year impact review and report for Unique Feet. The students were incredible, interviewing every family via Zoom and creating a beautiful testament to the success of the group.
This multi-stakeholder coalition of UK-based experts involved in rare disease across different sectors – from patient advocacy professionals, data-managers, academics, healthcare and industry.
We are united in our goal to bring benefit by exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic in order to plan for a better response to future crises and improve the rare disease patient journey post COVID-19.
ARDEnt hopes to illuminate examples of creative adaptability and best practice which could be utilised more widely in the future. Findings and recommendations from ARDEnt’s Making the Unseen Seen project will be delivered as a report in order to influence the UK Rare Disease Strategy 2020 creation and implementation.
Future plans
RAREfest20 is our next major activity but this will be closely followed by our first foray into speed-dating. As part of our Companies Forum initiative, we’ll be hosting a partnering event between our forum pharma and biotech members and a selection of patient groups to facilitate better patient engagement in the drug development process.
We’ll be moving on in 2021 to the creation of our next RAREsummit and have plans to expand our community support programme by partnering with another charity called Same but Different who have been piloting a Rare Navigator programme, providing a caseworker for families affected by rare diseases.
We plan to hold some new joint events with others including a collaboration with the Eastern Academic Health Science Network to help spark innovation in solving the problems of rare diseases identified by patients themselves.
We hope to see the future development of ARDEnt as a truly collaborative project and to use this as a vehicle to hold devolved governments to account in the development and implementation of the UK Rare Disease Strategy due to be published at the end of 2020.
I plan to continue to lead CamRARE into new ventures and to do what we do well in the service of those living with rare conditions.
Sarah Lippett will be talking about her book “Puff of Smoke” at RAREfest20
““Too often you’re seen as a number, rather than a human being. That needs to change.” – Sarah Lippett, Artist, Illustrator, Author and owner of two rare diseases
If you are a young person on your diagnostic journey or you’ve travelled that path yourself or with a loved one, then you’ll want to check in with RAREfest20 exhibitor, Sarah Lippett. Why? Because Sarah, who has two rare diseases, knows better than anyone the impact of ‘not knowing’ and the frustration of misdiagnosis.
Sarah’s comic book memoir ‘Puff of Smoke’ is all about the isolation of being undiagnosed. Her journey lasted from the age of seven to eighteen, a young lifetime of lengthy spells in hospital, lost friendships and missed opportunities. As an author and illustrator, Sarah wanted to create something that would give hope to young people on their diagnosis journeys – and raise awareness within medical circles.
Visit Sarah’s Crayonlegs exhibit at RAREfest20 – tickets here https://www.camraredisease.org/rarefest20/
At 12, Sarah was diagnosed with FSGS, a rare condition that causes scar tissue to develop on parts of the kidneys that filter waste from the blood. Not so rare. It actually affects 1 in 17,000 people. With medication, her condition stabilised long term.
Then, at 18, Sarah was also diagnosed with Moyamoya, which is far more unusual, affecting 1 in a million people in the UK. It causes the blood vessels to the brain to become narrowed, leading to paralysis and stroke. An operation all but cured this allowing her to live a full, busy life.
Last month, after sixteen years, Sarah’s FSGS symptoms returned, throwing her back to the uncertainty of her early years. It is a stark reminder of how uncertain life is with chronic illness and how dramatically life can change.
“One minute I’m taking my health for granted, running marathons, travelling with work as an artist and writer, lecturing at university and publishing a second graphic novel with Penguin. Then suddenly, overnight, here I am with deteriorated kidney function. The disease is back and I’m suffering on high dosages of my treatment like when I was a child.”
Join Sarah at RAREfest20 to explore her exhibit and discover more about her diagnosis journey and her life since.
“It’s a life I thought was in the past, but it’s different now. I’m an adult with responsibilities, a career and a real life. My mum and dad aren’t my carers anymore. I feel I have to be even stronger now but it’s very, very hard. In a way, the only silver lining is the pandemic. My condition would prevent me going onto the university campus, but thankfully I’m able to teach my students online. This gives me connection to the outside world, happiness and distraction. I don’t feel jealous that I’m missing out, because we’re all at home, restricted, and there’s something comforting in that. I’m taking pleasure in smaller things – walks around my new home of Portobello in Edinburgh and trying to remain hopeful that this is just temporary. It will pass.”
Who is your hero? My mum and dad. If it wasn’t for them, I don’t know if I would ever have got a diagnosis. They fought for me and never treated me any different to my siblings. Even when my body was out of control, they burned it into the back of my mind that I can do anything I want. I’ve lived my whole life with that positivity.
Where is your favourite place in the world? Anywhere my husband and my dog are! I love Portobello Beach in Edinburgh. It’s incredibly relaxing and calm. Scotland is stunning. It’s a wonderful place to live.
What is your greatest achievement? Being a published author twice, against the background of my school life which was ‘You’ll never achieve anything!’ I also have a BA degree and an MA from the Royal College of Art, which I’m really proud of.
What is your hope for rare disease? I hope that the community keeps growing and that awareness keeps growing. I hope the route to diagnosis gets shorter for everyone.
Known as the DNA doctor, Melita Irving is passionate about … well, DNA! She works as a consultant in clinical genetics at Guys and St Thomas’s Hospital, specialising in conditions that affect the skeleton. Last year Melita’s book ‘The Human DNA Manual’ was published by Haynes, covering everything from how DNA catches killers to identifying long-dead kings! Who’s the book for? Anyone with DNA!
At RAREfest20 Melita will be doing a live DNA extraction, not on a human (phew!) but on a strawberry. She’ll be interviewed by Dr Lucy Mackay from Medics4RareDiseases, a charity that drives an attitude change towards rare diseases amongst medical students and doctors in training.
We caught up with Melita ahead of RAREfest20 to talk all things DNA…
What does a genetic scientist actually do? Genetics impacts upon every system in the body and affects everybody! The most common type of referral into the clinical genetics service is a child who is not meeting their developmental milestones. Maybe they’re not growing as expected. Maybe they look different. Maybe they have an abnormality, like a hole in the heart. The question needs to be asked: Is this child just unlucky or could there be one single explanation that accounts for everything – and could it be genetic? Being a genetic scientist is exactly like being a detective, looking for that key clue that leads you down the right path and not being confused by any red herrings that are thrown in the way.
How has technology changed the way rare diseases are diagnosed? There are 20,000 genes, all of which can go wrong, and there are 8000 listed genetic disorders that are classed as rare diseases. Up until very recently we’ve been absolutely hamstrung by our ability to do genetic testing for diagnostic purposes. We used to put all the clues together, do our ‘best guess’ diagnosis, see if there’s a test available and then get that test done. After all that, you find you’ve been on the wrong path the whole time. So, you’d have to come back up that path and go down another one. Rinse and repeat. It could be a very long drawn out process that never led to any answers.
However, we are now in an era where we can do high throughput genetic testing. We are able to look at all the genes in one go and focus all our attention on those we think are relevant to the story. You can go down ten different paths at the same time! We are anticipating that in the next year or so the speed at which we get to diagnosis through genetic testing will be much quicker. That’s all down to technology and whole genome sequencing.
Why are rare diseases so hard to diagnose? Not many people know about rare diseases and there are so many of them, plus there’s no one type. You might have the same diagnosis as someone else, but the format of your rare disease is completely different.
Another problem is at medical school we are frequently told not to worry about rare diseases and concentrate on more common conditions. This means rare diseases are never fully appreciated and that bit of the ‘doctor brain’ never gets to develop. Medics4RareDiseases are pushing for more learning at medical school and in early stage careers, so rare diseases become something you must think about.
Technology has opened up the door for a much more rapid diagnostic system for rare disease, which will mean they will be pushed up the agenda and that will encourage greater awareness.
Who is your hero and why?
Rosalind Franklin. An unsung hero who doggedly worked away at discovering the structure of DNA, didn’t get recognition for her amazing work, but didn’t make a fuss about it. I’ve seen the photograph she took that led to the understanding of DNA as a double helix. It’s a wonderful thing to behold.
Where’s your favourite place in the world and why? This year I didn’t get to go to any the events I usually do, but I did manage to get a holiday! I went to Rhodes in Greece and it reminded me how much I love all things Greek! The sky, the sea, the food, the language. Just lying on the Mediterranean in the sunshine with the prospect of a delicious lunch on the beach is probably one of my favourite places to be.
What is your greatest achievement? The book! I’m delighted with how it’s turned out. It looks so pretty and is accessible to people who might not know anything about DNA. If I can impart my love of DNA to other people, that would be a very fine achievement.
What are your hopes for the future of rare disease? With all the improvements in how rare diseases are diagnosed, it would be really great if the next step was finding treatments that will make things better for patients with rare diseases. That’s where I’d like to see the future going.
CamRARE were delighted to recently take part in a new Rare Disease campaign in the New Scientist Magazine published on 24 Sept. It is dedicated to raising awareness of rare diseases featuring exclusive content from key thought leaders (including CamRARE!). It discusses the importance of collaboration in rare disease and the potential silver linings that can be found in the midst of a pandemic. You can pick up your copy in shops now or read our article and the full the rare disease campaign online here at Health Awareness.
“Dr Lucy McKay from M4RD, Rebecca Stewart from Rare Revolution and I came together in March 2020 with a mutual concern about how devastating the impact of COVID-19 an the global response to it was on rare disease. Concerns focussed around delayed diagnosis as genomic and medical services were halted, patients medical and social care crumbling around them and the prospect of cancelled research and delayed clinical trails and drug approvals as resources were diverted away. We shared a collective drive to make sure we learned everything we can about how the pandemic has affected those with rare diseases and rare disease services – the risks, but also opportunities such as the overnight opening up of networks by using digital communication.
From some initial discussion Action for Rare Disease Empowerment (ARDEnt) has grown – a collaborative multi-stakeholder group from across different sectors and industries. Because if we can’t all come together for rare disease now, when will we?”
Dr Giles Yeo works at the University of Cambridge, studying the genetics of obesity and the mechanisms of how our brain controls food intake. While interested in the general population, Giles says information garnered from studying rare disease patients with severe obesity helps understand the biology which has a broader impact on society and everyone else. We spoke to him ahead of his talk at RAREfest20
< Giles chats about CamRARE’s RAREfest20
Why is RAREfest so important? The vast majority of conferences I attend are within the academic bubble. You’re talking to other scientists and speaking in jargon. Presenting at an event like RAREfest, you have to think harder about what you’re going to say. Not only are you talking to scientists, but also patients and their families. For me as an academic and a scientist, this is always a gut check. Scientists can be myopic when they’re sitting in the lab moving small volumes of colourless liquids around. This a reminder that at the end of the test tube there is a human being and we’re trying to stop their suffering.
RAREfest brings together the people doing the research with the people suffering from the problem. This provides more perspective and I think drives better science.
Patients affected by rare diseases say they’ve been all but forgotten during the pandemic. Why do you think this is? The problem with rare diseases is like the name says, they’re rare. These conditions have a huge impact on the individual affected, but on a societal level, very little. When you’re going out and about talking about a condition, your words will influence the patients and the families affected, but for the average person, when you say the condition only affects 1 out of 15,000 people, they don’t feel concerned.
Human beings are inherently selfish because we’re interested in self-preservation. With a limited number of neurons in our brains, we want to worry about what impacts the majority of society rather than what impacts a small proportion of society. This is the problem. This is the value of having Cambridge Rare Disease Network and events surrounding rare disease because while each disease is, by its definition, rare, these events allow you to build critical mass. You can begin to group the conditions together.
For instance, each of the individual genetic conditions that result in severe obesity is going to be vanishingly rare. But once you group them all together, they explain a significant proportion, around 1-2%, of obesity.
What are the greatest challenges facing RD patients? It’s all about money. How do you convince someone to fund your study of a rare disease? If you’re a charity, how to you get the man on the street to part with his hard-earned bucks? And, how do you persuade a government funder or big charity that this is an important disease to study, compared to the big four – cancer, cardiovascular disease, obesity and diabetes. I’m not trying to compare the severity or the relevance here, but it is a challenge to frame your argument that the study of rare diseases is important.
What would be the biggest step forward for the rare disease community? That would be to convince society that they should care. I know it sounds callous, but large proportions of society say, ‘I’ve got other problems, I don’t have to worry about you.’
Why should they care? They have to care because while the disease in itself is rare, it is influencing a universal pathway. For example, understanding what influences your body weight opens up greater possibilities and new biology for understanding this problem for the broader community. Studying this as a rare condition may result in the development of a drug that not only helps a rare person but broader society. Understanding rare genetic variations help develop universal pathways that impact everyone in the species.
Tell us what people can expect from your talk at RAREfest20. I will chart the story about how studying rare diseases of obesity has given us new insight into normal variations of body weight. Why are some people small, medium or large? Our knowledge stems from, largely, the study of rare diseases. I want to convince people that by us understanding a rare condition there is a benefit to broader society. Again, it’s about showing people and policymakers why it’s worth supporting research into rare disease.
Who is your hero? My PhD supervisor, the Nobel prize winner, Sydney Brenner. I was his last PhD student. He took a chance on me and gave me my love for genetics. He died last year, but his impact on me remains.
Where is your favourite place in the world? San Francisco. That’s where I did my undergraduate degree. My dad is still there. I love going there for holidays and to see my family.
What is your greatest achievement? I haven’t achieved it yet! I’d like society to understand that your body weight is not actually a choice but biologically driven. That’s my goal. The world would be a much kinder place.
What is your wish for rare diseases? For society and funding bodies to understand why it’s worth investing resources to study rare diseases.
For third sector organisations, trustees are the beating hearts behind the scenes sharing ultimate responsibility for governance and direction.
CamRARE is proud to have such a talented board at its helm and we caught up with two of our Trustees, Dr Sarah Leiter and Ilan Chaitowitz, who each bring their individual skills and insight to the charity, to find out more about what attracted them to the role, what they hope to bring to the charity an their hopes for the future of CamRARE.
Being involved in CamRARE has been fantastic!
Dr. Sarah Leiter
CamRARE Trustee – Dr Sarah Leiter
Sarah was born and raised in Germany before moving to the UK where she studied medicine at the University of Cambridge. Sarah explains, “I first got involved with CamRARE at on of their rare disease lectures in 2017.”
At the time she was studying at medical school and was in the process of launching a student rare disease society. Sarah not only has a personal connection, she is a rare disease patient herself, but also as a scientist and medical doctor this combination has further piqued her interest and she offers a uniquely broad perspective. Sarah says of being a trustee at CamRARE, “…when I was asked to join the board it seemed like the perfect opportunity to get more involved!”
Sarah’s passion and enthusiasm to help people is one of the driving forces behind her becoming a trustee. Living with a rare disease, Sarah can bring her own experiences and insight, understanding first-hand the frustrations that patients and their families can experience. In addition, having completed her PhD studies on a rare syndrome, Sarah also understands how research is carried out. Now a young medical doctor based at Addenbrookes Hospital in Cambridge she aspires to pursue a career in medical genetics.
Sarah making DNA models at the CamRARE Rare-i-tea party on Rare Disease Day 2020
Sarah describes how through her work as a trustee at CamRARE, she has had the opportunity to learn a lot more about the industry around rare diseases and be part of some fascinating collaborative projects. As a trustee Sarah has had the chance to meet regularly with others involved in the rare disease community, further inspiring her to continue with her medical and scientific career.
Sarah’s hope for the future is to see the network grow and flourish, engaging more individuals, organisations and companies from across different sectors to work together to improve the lives of those affected by rare conditions. She strongly believes, “It’s not all about a cure but life more broadly.”
Trustee & TREASURER – Ilan Chaitowitz
Ilan, our newest trustee, joined the charity at the end of 2019 as Treasurer. Ilan has over 20 years of experience in the finance industry and it was this experience and the passion to spend his spare time, “in the pursuit of others’ wellbeing,” that led him to become a trustee at CamRARE.
CamRARE appealed to Ilan because, “It seeks to champion the causes of those most in need – the majority are children often with severe disabilities and terminal illnesses. There are usually no treatments and, given the small populations, weak incentives for governments or industry to develop them. CamRARE attempts to address these issues through local meetings and activities, public awareness and stakeholder networking events.”
Ilan admires the other trustees’ energy and dedication and hopes to bring this same level of commitment that the others already do, “Their tireless effort has seen CamRARE grow from nothing to a real presence in the UK’s rare disease landscape that has touched many lives already.”
Having been involved in the healthcare sector from a corporate perspective throughout his career, Ilan will use this experience and his familiarity with corporate developments on rare disease to drive fundraising efforts for CamRARE. His experience in accounting and assessing business strategies also put him in good stead in the role of treasurer.
It (CamRARE) seeks to champion the causes of those most in need
Ilan Chaitowitz
talks about why he joined CamRARE
First and foremost, Ilan hopes that in his role as a trustee he will earn a sense of accomplishment and make a positive impact on the lives of others. Having spent his career in the world of finance, by contrast, he was raised in a family of carers and doctors. He feels that one thing he has missed out on is the reward of helping others in an immediate and personal way and as a trustee, he intends to fulfil this.
Ilan thinks that the rare disease landscape is at a pivotal point and goes on to explain that “it is incredibly interesting with new scientific tools showing some early promise; gene editing, machine learning and single-batch drug manufacturing. I have also never acted as Trustee in a charity, so look forward to working with others with very different backgrounds to myself to take the charity to the next level.”
Ilan is still new to the role but is already looking ahead to CamRARE’s future. His initial focus is to understand the activities and finances in greater detail. He hopes to further strengthen the organisation’s financial foundation which will facilitate even more creative and mid-term planning.
Ilan is already impressed by how well CamRARE is doing and the path that it is on. He explains that he wants to, “continue the current range of activities and then broaden them to impact more lives to an even greater extent, in a sustainable way, I would consider that a job well done.”
We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking “Accept”, you consent to the use of ALL the cookies.
This website uses cookies to improve your experience while you navigate through the website. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may affect your browsing experience.
Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously.
Cookie
Duration
Description
cookielawinfo-checbox-analytics
11 months
This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Analytics".
cookielawinfo-checbox-functional
11 months
The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional".
cookielawinfo-checbox-others
11 months
This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other.
cookielawinfo-checkbox-necessary
11 months
This cookie is set by GDPR Cookie Consent plugin. The cookies is used to store the user consent for the cookies in the category "Necessary".
cookielawinfo-checkbox-performance
11 months
This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Performance".
viewed_cookie_policy
11 months
The cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data.
Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features.
Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.
Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc.
Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads.
