Cell and Gene Therapies Transform the Rare Disease Horizon – Are We Ready to Deliver Advanced Therapies? The Perspective of Sheela Upadhyaya, a Rare Disease Consultant

by Georgie | Sep 21, 2023 | Collaboration, Drugs and pharmaceuticals, Genomics, Healthcare, Summit

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.

Sheela is shown from the shoulders up wearing a white shirt. She has dark waved hair to the shoulders and wears dark red lipstick.

“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.

Picture shows DNA lit up in bright colours on a dark background

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.

Book your ticket for RARESummitt23

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

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

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.

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 1

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 2

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 3

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

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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Keeping people with rare diseases connected: The challenges they face during the pandemic

by WOMANTHOLOGY | Nov 16, 2020 | Collaboration, External Blogs, Healthcare, Raising awareness

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.

“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

I began my career in teaching in 1992 having undertaken a degree in geography at the University of Manchester followed by a PGCE at the University of Liverpool.

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.

In addition to this, we began a collaborative project with two other rare disease organisations – Medics for Rare Diseases and Rare Revolution Magazine to create Action for Rare Disease Empowerment (ARDEnt).

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.

https://www.linkedin.com/in/balfourjo/

https://www.camraredisease.org/

https://twitter.com/camraredisease

A Puff of Smoke at RAREfest20: A comic book on being undiagnosed

by Jo B | Oct 27, 2020 | Community, Events, Healthcare, Patient Groups, Raising awareness, RAREfest, Treatments

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.

Check out Sarah's book

“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.

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Dr Melita Irving- The DNA Doc at RAREfest20

by Jo B | Oct 1, 2020 | Community, Events, Genomics, Healthcare, Raising awareness, RAREfest, Research

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.

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New Scientist magazine: Rare disease campaign 2020

by Jo B | Sep 28, 2020 | Collaboration, Community, Drugs and pharmaceuticals, Healthcare, Raising awareness

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.

Cambridge Rare Disease Network - New Scientist magazine: Rare disease campaign 2020 5

“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?”

Jo Balfour (Managing Director)

Jo Balfour CamRARE New Scientist Magazine

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Dr. Giles Yeo “RAREfest20 is a unique event that drives better science”

by Jo B | Sep 21, 2020 | Events, Genomics, Healthcare, RAREfest, Research, Uncategorized

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.

Cambridge Rare Disease Network - Dr. Giles Yeo "RAREfest20 is a unique event that drives better science" 6

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Meet two of the beating hearts behind CamRARE

by Jo B | Mar 3, 2020 | Collaboration, Community, Healthcare, Raising awareness

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.

Cambridge Rare Disease Network - Meet two of the beating hearts behind CamRARE 8

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.

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

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.”

Cambridge Rare Disease Network - Meet two of the beating hearts behind CamRARE 10

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.”

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RARESummit 2019 – Patients as partners

by Jo B | Oct 7, 2019 | Artificial Intelligence, Community, Drugs and pharmaceuticals, Events, Healthcare, Patient Groups, Raising awareness, Research, Summit, Technology, Treatments

Wellcome Genome Campus hosts CamRARE RARESummit 19

PASSION LED US HERE
A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CamRARE RAREsummit19.

For the team at CamRARE, September 23rd was the culmination of a busy year of planning and creating, a process driven by a passion to move towards a world where rare disease is at the top of the mainstream agenda and patient are involved as partners in the many design and development processes which impact on their lives. RARESummit19 brought together patients, patient advocacy groups, researchers, health care professionals, tech and pharmaceutical industries, all leading the way in pioneering partnerships to accelerate change. This year’s venue, the prestigious Wellcome Genome Campus, was a move from our central Cambridge location and a fitting new venue for RARESummit19. We needed more space to cater for a growing number of attendees – a 58% increase on our inaugural summit of 2015, a brighter and more welcoming exhibition space to showcase more organisations and companies and better accessibility features which sometimes only a modern setting can bring. Home to some of the world’s foremost institutes and organisations in genomics and computational biology, WGC is committed to delivering life-changing science and we felt was the perfect location to make progress in rare diseases.

Delegate feedback on this change in location was encouragingly positive “Absolutely superb venue and facilities, plenty of room for exhibitors, delegate interaction in breakout sessions and of course, first class auditorium and AV – so important to clearly hear and see every speaker”. But of course, that doesn’t mean we’ll rest on our laurels and we appreciate the feedback about tweaks we could make within the venue to improve things.

We welcomed a number of returning exhibitors and some who were exhibiting for the very first time. The quality and wealth of information, education and support was outstanding – a real testament to the work being done day in and day out by passionate stakeholders within the rare disease field.

It’s always a pleasure to see representatives from all stakeholder groups in attendance. Diversity in attendance is vital to the success of collaborative and open discussions. The buzz over lunch was testament to the great networking taking place and audience participation was at its highest ever via our event technology Glisser. 199 people logged in to download slides on their devices, ask questions and respond to polls. An astonishing 155 questions came flooding in and 1227 votes were placed during polls. Thank you to all who attended and contributed so meaningfully in so many different ways.

MORNING SESSION: Patients as partners in searching for treatments and cures

Patient engagement and partnership is crucial in the development of drugs and products for the bio- pharmaceutical industry. There has been a move towards a more patient-centric approach by industry over the last few years to varying degrees of success. During the morning session we wanted to shine a light on those relationships that were leading the way and discuss what the future might hold for rare disease patient collaborations.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 11

Dr. Jonathan Milner
© CamRARE 2019

Opening remarks

Dr. Jonathan Milner, CamRARE Trustee, Abcam founder and biotech entrepreneur opened the summit and set the scene for an “exciting day ahead”. Dr Milner praised the wealth of expertise that had come together in one room and stated, “it is the motivation of making a difference to patients which unites us.” With the enormous rate of scientific progress and patients taking their health care into their own hands it is an exciting time for genomics and Dr Milner impressed on the audience that for CamRARE, an important part of their work was to incubate networks to allow for meaningful collaborations.

Keynote Speaker

Alastair Kent, OBE presented ‘From the margins to the centre: A personal reflection on progress for rare disease patients and families’, walking us through the history of scientific progress to demonstrate the speed at which science has advanced rapidly over the last 25 years. He highlighted the 100,00-genome project as a “research milestone” and provided this poignant quote by William Harvey to demonstrate how “rare diseases provide key insights into how our bodies work.”

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease.” William Harvey.

Rare diseases provide key insights into the way our bodies work.

William Harvey

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 12

Alastair Kent
© CamRARE 2019

Panel Discussion
No patient left behind, patient group partnering

Panellists representing a wide range of rare disease patient advocacy groups provided valuable insight into disruptive innovations and the importance of including patient voices at every step of the drug development journey.

Dr Ana Mingorance (CDO Lou Lou Foundation) gave a brilliant visual, accessible whistle-stop tour of the drug development process emphasising the importance of patient groups in this. Charity leaders then shared their successes in working within this process, and the barriers they faced. Carina Thurgood (Co-Founder of Maddi Foundation) battled against the isolation experienced when her daughter was diagnosed with SPG15 and was the only known case in the UK. She has since partnered with a research team at Sheffield Institute for Translational Neuroscience and raised thousands through public appeals and TV appearances to fund their research into a gene therapy. Next steps are to develop a natural history study.

Allison Watson (Co-Founder of Ring 20 Research) described the challenges she faced finding a large enough cohort when working with an ultra-rare disease. She emphasised the importance of becoming a team player and how the voice of Ring20 has been raised by being involved in the ERN for rare epilepsies and being an EPAG rep. Tanya Collin-Histed (CEO at International Gaucher Disease) inspired the audience with their work ensuring that no Gaucher patient is left behind through their international efforts to support patients across the globe, their international registry development and willingness to embrace wearable health tech to gather much needed data.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 13

Dr. Paul Wicks
© CamRARE 2019

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 14

Dr. Nick Sireau
© CamRARE 2019

Moderated Discussion
Disruptive technologies

Dr Tim Gulliams (Founder of CamRARE, and CEO & Co-Founder of Healx), Dr Andy Richards (Digital Health Entrepreneur), Dr David Brown (Co-Founder and Chief Scientific Officer at Healx), Elin Haf Davies (CEO at Aparito) and Dr Pete Chan (Head of Research at Raremark).

Here the importance of technology was discussed including how the internet allows patients and science to connect more readily than before and how Google has been an agent for empowerment. Their discussion covered wearable technologies and their role in collecting “real time” real world data and how it is essential to listen to patients and families in order to document real world evidence beyond the consultation room. The panel discussed the pros of using technology to do the “heavy lifting” in data sorting to relieve the current burden from Doctors and nurses and improve outcomes for the rare community.

The Rare Summit was once again a great opportunity for patients, industry, academia and clinicians to come together to hammer out new ways of developing treatments for rare diseases.

Dr. Nick Sireau

CEO and Chair, AKU Society

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 15

The Google and Genomics are two technologies that have changed the understanding and opportunities available to people living with rare diseases. Moving forward with rapidly changing innovation we need to make sure that just because “we can” doesn’t mean “we should”. Ethics and patients, and not technology should drive what and how we do next.

Elin Haf Davies

Founder and CEO, Aparito

Moderated Discussion
Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Dr Joanna Segieth (Takeda), Professor Chas Bountra (Uni of Oxford), Steve Rees AstraZeneca), Dr Daniel O’Connor (MHRA), Neil Dugdale (SOBI), Thomas Ogorka ( Orphan Reach) and Dr Nick Sireau (AKU Society).

This was a lively debate on the importance of working with patient groups and of open and transparent collaboration and working practises within the pharma industry.

Questions flooded in from delegates for this talk with the most upvoted question being “How do we get regulators, researchers and industry to work together to agree standardised endpoints that can be measured remotely?” followed closely by “Having worked bridging pharma with patients for 25 years, I’ve never seen Pharma behave poorly towards patients but I’ve seen ‘big’ patient orgs reject working with Pharma. Can we eradicate Pharma as the ‘panto villain’ and rewrite the collaboration story?” and “Is it only about the drugs? What about life science companies ‘developing’ health services for people in parallel to drug development?” If you were at the summit, the film of this discussion will be available to you soon to re-listen to the debate and we’ll be circulating some of the many unanswered questions for people to continue the discussion and share ideas.

Through partnerships, we hope that together we can build a better future with medicines that make a real difference to patients.

Dr. Joanna Segieth

Biosynetix Ltd, Rare Drug Development Solutions

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 16

AFTERNOON SESSION: Patients as co-designers of technology and care

Shining a light on some of the successful patient partnerships and collaborations that are making improvements in technology design, personalised care and clinical settings which improve accessibility, symptoms and lived experiences.

Short Talk
Co-creating genetic reports that are understood by
non-specialists

Dr Gabriel Recchia (Research Associate, Winton Centre for Risk and Evidence Communication, University of Cambridge), Dr Gemma Chandratillake (E & T Lead at the East Midlands & East of England Genomic Laboratory Hub) and Menna Hawkins (Polyposis Nurse Specialist).

This team have been working on a collaborative project with patients to redesign genetic reports and the way they are presented to patients to ensure they are patient friendly, thus allowing greater understanding from patients and families of their own genetic circumstances.

Gemma asked the audience how useful a genetic report would be to them as a patient – 94% answered reasonably to very important showing a clear need for a more accessible design.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 17

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 18

RARESummit demonstrated the power of patient-centred approaches [in technology, service-design, research, and drug development] to move things forward for those affected by rare disease

Dr Gemma Chandratillake

Education and Training Lead, East Midlands & East of England Genomic Laboratory Hub

Short Talk
Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Dr. Cecily Morrison and Dr. Sarah Leiter presented the result of their collaboration to our audience. Using assistive technology, they have created a new educational computer programming system for tactile learners. It was fascinating to see how Sarah’s lived experience of visual impairment gave the researchers a unique insight into the true needs of end users with low vision. 100% of the audience responded to the live poll asking if they felt end users should be included in the design yet only 34% had actually had that opportunity. Of those who had, 85% had a good experience. Cecily shared the inclusive design principles they use at Microsoft Research – recognise exclusion, solve for one, extend to many, learn from diversity.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 19

Short Talk
“Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Laurence Woollard delivered a passionate presentation of his journey with haemophilia highlighting the lack of support when transitioning between paediatric and adult services and the challenge of becoming responsible for your own health care at a time of significant physical change. Laurence shared his belief that early intervention with peer led programmes could be the key to tackling this growing problem.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 20

What matters to you?
What matters most?
We need a national debate on rare diseases

We were delighted to welcome the UK’s Minister for Innovation in Health, Baroness Nicola Blackwood, a passionate are disease advocate and the minister leading on the ‘National Conversation’ which will gather the views of all stakeholders to set the priorities for the UK Rare Disease Strategy 2020 framework. The Minister delivered a powerful and heartfelt talk drawing on her on experience of the diagnostic odyssey before being diagnosed with Ehlers Danlos Syndrome. Baroness Blackwood introduced the Hackathon Challenge, a cross sector team activity brainstorming their priorities for the new Strategy, inviting people to share their views.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 21

the RAREsummit hackathon

The final session of the day saw cross-sector teams thrash out ideas on problem areas in rare disease such as diagnosis, care coordination, research acceleration, early access and reimbursement and patient empowerment. Discussions were vibrant ad filled with knowledge and passion culminating in five winning ideas being pitched to the whole audience. We were impressed with the far-reaching ideas the teams came up with and have gathered all of these, alongside all other suggestions made, and will be presenting these as a report to the Minster in early December. Watch this space. … .

Networking and Takeaways

As with all our events we see huge value in networking and we hope attendees found plenty of opportunities to build on established relationships and that doors were opened to new connections through this event. The rare disease community is a powerful one and CamRARE really felt this during this event.
While it by no means dominated the event the inevitable topic of Brexit rose its head and it was clear to see that this is already impacting our health service with shortages in health care professionals and a reduction in overseas talent both in health care and research applying to work here in the UK. Open collaboration was the call from the day and something patient groups want to see improve across industries.

A huge thank you to all who attended and to our sponsors, speaker and exhibitors!

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CamRARE Companies Forum 2020: Connecting the dots

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

Can CamRARE’s Companies Forum 2020 connect the dots?

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

COMPANIES FORUM: Recognising the Challenges

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

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

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

Cambridge Rare Disease Network - CamRARE Companies Forum 2020: Connecting the dots 23

Dr. Ron Jortner, CamRARE Trustee and Founder and CEO of Masthead Bioscience

In conversation with Dr Ron jortner, Companies forum lead

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

What sort of companies get involved?

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

How are COMPANIES FORUM meetings structured?

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

and Tell us more about the next meeting…

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

Cambridge Rare Disease Network - CamRARE Companies Forum 2020: Connecting the dots 24

Prof. Chas Bountra, Pro-Vice-Chancellor of Innovation at Oxford University Innovation

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

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

HOw do you like to describe the forum?

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

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

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← CamRARE host rare stage at Innovation Forum Health Horizons RARESummit 2019 – Patients as partners →

CamRARE host rare stage at Innovation Forum Health Horizons

by Jo B | Jul 5, 2019 | Artificial Intelligence, Drugs and pharmaceuticals, Events, Healthcare, Patient Groups, Technology, Treatments

CamRARE brings the RARE voice to major life sciences event

Cambridge Rare Disease Network - CamRARE host rare stage at Innovation Forum Health Horizons 25

Cambridge Biotech week, 25th – 28th of June 2019, was a brand new festival of events launched by the Global Innovation Forum designed to accelerate scientific ideas and support investment and growth for companies in the field of life sciences.

Events took place across Cambridge and included the Health Horizons Future Healthcare Forum, the Milner Therapeutics Symposium, Digital Disruptors, Scaling up Success in Biotech hosted by One Nucleus and the Hong Kong Biotech Roadshow. As part of the two day Health Horizons Forum, Cambridge Rare Disease Network were honoured to host ‘Rare Disease Innovation and Collaboration’ at Corpus Christi College.

Cambridge Rare Disease Network - CamRARE host rare stage at Innovation Forum Health Horizons 26

From left to right – Prof Tim Cox, Dr Rick Thompson, Patricia Durao-Lewi, Dr Tim Guilliams

Health Horizons is a high calibre, two-day conference focusing on the future of the healthcare industry. Over 100 hard-hitting speakers gathered to address this challenge and share their thoughts with a global audience. The Cambridge Independent shared their “Five things we learned at Health Horizons” summing up that “it’s all about being interdisciplinary”, “research needs to be translated”, “scientific co-creation can follow from serendipity” and “open innovation can accelerate progress”. Needless to say we were delighted to bring the conversation around to the development of treatments and cures for rare diseases and promote the patient voice as essential to these interdisciplinary and collaborative approaches.

As with all of our events, it’s great to have a broad range of stakeholders in attendance. A global audience of patient groups and rare disease advocates, industry, healthcare, research and technology professionals were in attendance to benefit from the thought-provoking presentations of our four speakers who are at the heart of innovative breakthroughs in therapies and technology. Delegates were able to share in their expertise in co-creating innovative solutions to some of rare disease’s most challenging healthcare issues. Presentations and Q+A were followed by a lively panel discussion moderated by CamRARE Trustee Prof. Tim Cox.

The race to introduce new medicines, provide healthcare and stimulate investment often misses the point for patients at the centre of our network… Strong, forward-looking talks from all the speakers showed what can be achieved in true partnership – and how. Put simply: different means for each party needs to be understood if the common goal is to be achieved.

Professor Tim Cox

CamRARE Trustee

THE Presentations in a Nut-Shell

Professor Tim Cox – Professor of medicine and trustee of CamRARE
What is it to be rare?

From the diagnostic odyssey still faced by patients with rare diseases to the rise of drug buyers clubs, Professor Cox discussed the current climate and how his belief in human connections and collaborative and combined thoughts and effort will have the greatest potential for solving the biggest challenges in rare disease drug development. Tim spoke with a passion and empathy which comes from many years of working closely with affected patients, their families and with patient groups.

Dr Tim Gulliams – CEO and Co-Founder of Healx
Drug repurposing for rare diseases: patient group partnerships at the heart of AI

Dr Tim Guilliams spoke passionately about the importance of collaborating with patient groups and how invaluable this has been in their work in drug repurposing. Tim described some of the huge leaps forward that the Cambridge-based start up company has made using AI and big data to find drug-repurposing options for 100 rare diseases by 2025. But his message was clear, that their partnerships with patient groups who can share their lived experience are vital to their success.

Patricia Durao-Lewi – Co-Founder of CATS Foundation
Patient organisations driving research: collaboration is the key

An inspirational presentation showing the sheer power of a united patient community. From being told they would never meet another Tay-Sachs patient to hosting their sixth European family conference and the creation of the European Tay-Sachs and Sandhoff Charity Consortium Patricia demonstrated how collaboration with other Tay-Sachs patient groups globally and a firm partnership with Prof Tim Cox and his team has allowed them to create a powerful and united narrative for Tay-Sachs and Sandhoff disease. Their purposeful and focussed collaborative approach has resulted in a comprehensive patient registry, successful funding bids and a promising research pipeline with clinical trial dates set for 2019 and 2020.

I would hope that my talk helped delegates understand that rare disease must be tackled from all angles. This means including patient organisations so that they can work together with pharma and researchers as a more powerful team.

Patricia Durao-Lewi

CATS Foundation

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2019 Rare Disease Day Cambridge Lecture

by Suzanne Morris | Mar 1, 2019 | Community, Events, Healthcare, Raising awareness, Rare Disease Day, Research

Put over 150 passionate and motivated people together to talk about rare disease research and you can expect a fascinating evening.

That’s just what happened at the recent public evening, hosted by Cambridge Rare Disease Network in collaboration with the NIHR BioResource for Translational Research at Addenbrooke’s Hospital to mark International Rare Disease Day 2019.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 27

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 28

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma Chandratillake, CamRARE Trustee (pictured left)

Full agenda and biographies from the day. Click on the links below to view the audio and presentation slides for each talk.

Welcome Address
Prof. Patrick Chinnery
NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge

Improving Patient Health in CNO and SAPHO
Dr. Jagtar Singh Nijar
NIHR Clinical Lecturer in Rheumatology, University of Cambridge

Whole Genome Sequencing for susceptibility to infectious disease
Dr. James Thaventhiran
Consultant Clinical Immunologist, University of Cambridge (slides and audio not available)

Next Generation Children Project – Rapid Genome Sequencing for critically ill children
Dr. Isabelle Delon Clinical Scientist, EMEE Genomic Laboratory

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

Closing Address
Dr. Nathalie Kingston
NIHR BioResource Director

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Sheela Upadhyaya

The Advancement of Rare Disease Therapies

Collaborating for Successful Delivery

Bringing Stakeholders Together

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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.

Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

AMPLIFYING patients’ voices

Image: Sophie Muir Chair of the Timothy Syndrome Alliance

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

Collaborating, listening and educating effectively with patient groups

Image: Naomi Litchfield Bionical Emas

Image: Naomi Litchfield Bionical Emas

Collaborating, listening and educating effectively with patient groups

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Getting into teaching children with special educational needs and disabilities

Supporting those with rare diseases

Creative thinking, inspiring and cajoling, forensic planning, juggling and management

#RAREfest20

The challenges people with rare diseases need to face

Keeping the community connected

Future plans

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

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< Giles chats about CamRARE’s RAREfest20

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

Being involved in CamRARE has been fantastic!

CamRARE Trustee – Dr Sarah Leiter

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

Trustee & TREASURER – Ilan Chaitowitz

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

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Wellcome Genome Campus hosts CamRARE RARESummit 19

PASSION LED US HERE A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CamRARE RAREsummit19.

Dr. Jonathan Milner © CamRARE 2019

Opening remarks

Keynote Speaker

Rare diseases provide key insights into the way our bodies work.

Alastair Kent © CamRARE 2019

Panel Discussion No patient left behind, patient group partnering

Dr. Paul Wicks © CamRARE 2019

Dr. Nick Sireau © CamRARE 2019

Moderated Discussion Disruptive technologies

The Rare Summit was once again a great opportunity for patients, industry, academia and clinicians to come together to hammer out new ways of developing treatments for rare diseases.

Elin Haf Davies © CamRARE 2019

Moderated Discussion Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Through partnerships, we hope that together we can build a better future with medicines that make a real difference to patients.

Dr. Joanna Segieth © CamRARE 2019

AFTERNOON SESSION: Patients as co-designers of technology and care

Short TalkCo-creating genetic reports that are understood by non-specialists

Menna Hawkins © CamRARE 2019

RARESummit demonstrated the power of patient-centred approaches [in technology, service-design, research, and drug development] to move things forward for those affected by rare disease

CamRARE Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake © CamRARE 2019

Short Talk Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Laurence Wollard © CamRARE 2019

Short Talk “Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Baroness Nicola Blackwood at RAREsummit19 © CamRARE 2019

What matters to you? What matters most?We need a national debate on rare diseases

Hackathon teams at RAREsummit19 © CamRARE 2019

the RAREsummit hackathon

Networking and Takeaways

A huge thank you to all who attended and to our sponsors, speaker and exhibitors!

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Can CamRARE’s Companies Forum 2020 connect the dots?

Dr. Ron Jortner, CamRARE Trustee and Founder and CEO of Masthead Bioscience

In conversation with Dr Ron jortner, Companies forum lead

““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

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

PASSION LED US HERE
A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CamRARE RAREsummit19.

Dr. Jonathan Milner
© CamRARE 2019

Alastair Kent
© CamRARE 2019

Panel Discussion
No patient left behind, patient group partnering

Dr. Paul Wicks
© CamRARE 2019

Dr. Nick Sireau
© CamRARE 2019

Moderated Discussion
Disruptive technologies

Elin Haf Davies
© CamRARE 2019

Moderated Discussion
Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Dr. Joanna Segieth
© CamRARE 2019

Short Talk
Co-creating genetic reports that are understood by
non-specialists

Menna Hawkins
© CamRARE 2019

CamRARE Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake
© CamRARE 2019

Short Talk
Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Laurence Wollard
© CamRARE 2019

Short Talk
“Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Baroness Nicola Blackwood at RAREsummit19
© CamRARE 2019

What matters to you?
What matters most?
We need a national debate on rare diseases

Hackathon teams at RAREsummit19
© CamRARE 2019

Professor Tim Cox – Professor of medicine and trustee of CamRARE
What is it to be rare?

Dr Tim Gulliams – CEO and Co-Founder of Healx
Drug repurposing for rare diseases: patient group partnerships at the heart of AI

Patricia Durao-Lewi – Co-Founder of CATS Foundation
Patient organisations driving research: collaboration is the key