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

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

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

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

RAREsummit21 logo for website menu only

On 7th October 2021, we’re holding our 5th RAREsummit – CRDN’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.

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photo of Alex Lloyd
Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

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

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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.”

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photo of Sophie Muir
Image: Sophie Muir Chair of the Timothy Syndrome Alliance 

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

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

To test this hypothesis, CRDN 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 CRDN’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 CRDN RAREsummit last year and also involves another company following CRDN’s invite for me to present at your Companies Forum – so your events have a HUGE amount of value to us!”

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

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

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

Collaborating, listening and educating effectively with patient groups

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

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

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

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

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

Book your tickets

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CRDN Companies Forum 2020: Connecting the dots

CRDN Companies Forum 2020: Connecting the dots

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

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Can CRDN’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

CRDN, 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 CRDN 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.

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Dr. Ron Jortner, CRDN 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 CRDN 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 CRDN 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.”

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

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

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

 

HOw do you like to describe the forum?

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

 

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

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RAREfest18 “heartwarming, uplifting, informative”

RAREfest18 “heartwarming, uplifting, informative”

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

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Heartwarming, uplifting and informative, RAREfest18, the world’s first-ever festival on rare diseases drew huge crowds to the Guildhall over the weekend of November 30 & December 1.

 RAREfest18 was the first of its kind; a rare disease inspired festival, created and delivered by Cambridge Rare Disease Network, bringing passionate and inspirational people together to change the rare disease landscape for the better.

The event set out to raise awareness, share information and dispel some of the myths about rare diseases and the plight of those living with them. Rare diseases affect around 3.5 million people in the UK. Despite this, rare diseases are not consistently diagnosed, treated or supported, effectively and knowledge amongst health care professionals, educators, social care and the public is limited. The need for a powerful emotive programme was identified; speakers, exhibitors and performers at RAREfest had one goal in mind: change the rare disease landscape. Annual summits and events by CRDN have consistently been milestone events in the rare disease community but bringing a rare disease event to an already invested community has a certain security. This time we wanted to tackle the more challenging issue of public perception of rare disease.

RAREfest was to be our most ambitious event to date!

This year’s unique RAREfest event was created for the public, in part due to the disparity between actual facts and public awareness of rare diseases. For example, while research has shown that only 38% of people think rare diseases have no treatment, in reality this figure is 95%. The aim of the festival was to bring about meaningful and positive change in as many ways as possible for the rare disease community – from raising broader awareness and promoting understanding, to providing practical support. Over two free days, RAREfest provided a stimulating mix of science, technology and the arts, with motivational speakers from academia, industry, the media and all importantly, patient advocates.

The educational programme was enriched with interactive exhibits, demos and film, all public-facing, promoting inclusivity to widely raise the profile of rare disease. CRDN created a platform from which the rare disease community itself was in charge of their own narrative with which to educate and engage a public audience.  Read the glittering review from Cambridge independent newspaper here https://www.cambridgeindependent.co.uk/news/rarefest-brings-life-sciences-to-guildhall-9056317/

Friday night launch event

On the evening of 30th November 2018 over 200 attendees listened attentively as Alastair Kent, OBE, former Chairman of CRDN, opened the world’s first rare disease festival with a poignant observation:

“A few years ago, it would not have been possible to have filled a hall like this (Cambridge Guildhall)”

Attendees were subtly educated whilst being entertained during AbbiBrown’s presentation, Growing up with a Galapagos Tortoise: and other funny stories. Abbi, a founding member of CRDN who, by her own admission left Cambridge University with two degrees and wheelchair, explained what life had been like for her growing up with osteogenesis imperfecta (Brittle Bones) relaying stories of her time as cox for her college rowing team.

Adam Pearson, award winning campaigner, actor and presenter and sculptress Dagmar Bennett talked about the process of creating Adam’s life size bust to raise awareness about Neurofibromatosis, a rare genetic disorder that causes tumours to form on nerve tissue, and to champion face equality.

We are bombarded every day by media images of how we should look, for people with disfigurement it can be absolutely paralysing

Adam Pearson

The audience were captivated by an enchanting dance performance from Unique Feet, CRDN’s local community group of 10 children, each with a different rare disease, and the talented classical musician James Risdon who gave a mesmerising recorder performance. James lives with a rare eye disease, Leber’s Congenital Amaurosis, and learns all his repertoire through braille.

The evening ended with an awe-inspiring talk by Michael McGrath who led polar expeditions to both North and South poles to raise awareness of Muscular Dystrophy, a degenerative disease which has led to Michael himself being the proud owner of a technical masterpiece of a power chair to enable him to take on such challenges and be as independent as possible. Michael’s work through The Muscle Help Foundation ensures children affected by muscular dystrophy can experience life changing adventures of their own.

The evening was a resounding success, bringing together a diverse public audience mixed with rare disease advocates to walk in the shoes of those living with rare conditions through humour, dance, music and inspiring presentations. Read the Cambridge Independent news coverage of the event here.

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Saturday’s Roundup

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

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

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

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

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

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

 

Here are some stats from RAREfest 2018

RAREfest in Numbers

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

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

Steve Smith

Head of Rare Diseases & Gene Therapy

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

Harriet Gridley

Head of business development UK at No Isolation

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CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

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

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

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

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Dr Gemma Chandratillake, CRDN trustee, inspires the attendees with her patient-centric talk
The 150 participants with backgrounds in statistics, bioinformatics, genomics, medicine, design, entrepreneurship and patient advocacy listened to pitches from each of the challenge partners before making their way into teams with others interested in a particular challenge.

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

And the winners were…

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

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Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

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CRDN trustee helps new mums learn genomics from home

CRDN trustee helps new mums learn genomics from home

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

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

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

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

So how did this inspire Gemma to help her students?

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Image above from Cambridge Independent newspaper
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Screenshot above from C4 news  website
Read this article in the Cambridge Independent newspaper, and watch the recent Channel 4 news footage from Jon Snow.

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

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

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

Tackling the rare disease conundrum with passion, innovation and investment

Article by Paul Tunnah, Pharmaphorum

Passion

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

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

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

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

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Professor Gregory Winter – Cam Uni and Cambridge Antibody Technology (right), Dr Tim Guilliams – Founder and Chair CRDN (left)

 Innovation

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

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

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

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

Investment

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 27
Herman Hauser – speaker 

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

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

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

Paul Tunnah

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

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 28
Professor Stephen Hawking provided a video keynote 

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

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