Cambridge Rare Disease Network receives Big Lottery funding

Cambridge Rare Disease Network receives Big Lottery funding

Cambridge Rare Disease Network receives Big Lottery funding

Cambridge Rare Disease Network is pleased to announce that they have received Big Lottery funding. We are delighted to receive the support of the Big Lottery as this will ensure we develop our Network professionally and enable our work to raise awareness of rare diseases to grow.

The Lottery has funded us for the Cambridge Rare Disease Network Project. “This is a project by a voluntary organisation in Cambridge. The organisation will use the funding to develop a business model and campaign strategy to support its growing network of voluntary organisations, research and health industry groups. This will enable the group to develop a business strategy and new awareness raising campaigns to promote the network and associated partners, providing more support and advice to people living with rare diseases to improve wellbeing, improve access to therapies and treatments, as well as reduce isolation.”

Cambridge Rare Disease Network - Cambridge Rare Disease Network receives Big Lottery funding 1

Collective intelligence at the Cambridge Rare Disease Network

Collective intelligence at the Cambridge Rare Disease Network

Collective intelligence at the Cambridge Rare Disease Network

Cambridge Rare Disease Network - Collective intelligence at the Cambridge Rare Disease Network 2
Developing and using our collective intelligence – using digital and social technologies to support and enhance the work of thinking beyond the capabilities of any individual person- will be vital as we take on the key challenges of coming years; our climate, managing our resources, health, ageing population.

Lydia Nicholas of Nesta blogged about the 2015 Cambridge Rare Disease Summit, sharing some examples of collective intelligence ‘in the wild’.

Read her post on the Nesta website.

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

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

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!

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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.

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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

Prof Stephen Hawking to address summit on rare diseases

Prof Stephen Hawking to address summit on rare diseases

Prof Stephen Hawking to address summit on rare diseases

In the lead-up to Jeans for Genes Day, Cambridge’s best-known rare disease advocate Professor Stephen Hawking will address the inaugural Cambridge Rare Disease Summit, at the Cambridge Judge Business School on Monday 14 September 2015.

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Professor Hawking was famously diagnosed with the rare motor neuron disease at 21, and was told science had no answers. He has of course gone on to live a long and productive life, and the Cambridge Rare Disease Summit will discuss how to make this a reality for the 3.5 million other Britons who live with a rare disease.

At the summit, hosted by the Cambridge Rare Disease Network, international experts will join local leaders to discuss innovative treatments for rare diseases. With more than 6,000 rare diseases already identified, we each face a one in 17 chance of developing a rare disease; however recent advances in genetics and genomic medicine mean that scientists are better placed than ever before to diagnose, treat and potentially cure rare genetic disorders.

The summit will bring together more than 150 key stakeholders involved in rare diseases, ranging from those working on drug development, data sharing and parent support, to biotech entrepreneurs, pharmaceutical companies and start-ups.

Kay Parkinson, CEO of the newly-formed Cambridge Rare Disease Network (CRDN) said the summit will help them to create awareness of rare diseases and form a community of active stakeholders in rare disease research and development. “As parent to two children who were given a late diagnosis of the ultra rare Alström Syndrome, I think it’s crucial to foster dialogue, find solutions and increase awareness of the huge social and therapeutic unmet needs around rare diseases,” said Kay. 

The CRDN builds on the Cambridge area’s strengths in research and industry and on the success of the area’s biotech cluster. The network is also looking to find alternative ways to fund drug discovery programs for rare diseases, often overlooked by more traditional financing due to the lack of large-scale reward. As well as Professor Hawking, keynote speakers will include:

  • Parent advocate Dr Matt Might, founder of NGLY1.org
  • Dr Bruce Bloom, CSO of the US drug repurposing charity Cures Within Reach
  • Dr Hermann Hauser, CBE, of Amadeus Capital Partners
  • Alastair Kent, OBE, Director of Genetic Alliance UK and founder of Rare Disease UK

See the full list of speakers at: https://camraredisease.org/conference/#speakers

 

About the Cambridge Rare Disease Network

The CRDN is a not-for-profit creating awareness of rare diseases and forming a community of active stakeholders in rare disease R&D that builds on Cambridge’s strength in biotech and research. The Summit is their first major event, and is kindly supported by: Horizon, Alexion, Evolution Education Trust, MRC Technology, Congenica, and Sobi. The CRDN is also supported by a range of organisations, including: Cambridge Judge Business School, Cures Within Reach, Findacure, GeneAdviser, Genetic Disorders UK, Global Biotech Revolution, Global Genes, Healx, Innovation Forum, One Nucleus, Stevenage Bioscience Catalyst, and Utah Rare.

Find out more about the Cambridge Rare Disease Summit, see the full speaker line-up and register to attend at https://camraredisease.org/conference/

For more information please contact:

Tamzin Byrne, tamzin@scienceinpublic.com.au, +44 (0)7596 035 201

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