Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Cambridge Rare Disease Network - Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it 1

This year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

September 20, 2018 – article in Pharmaphorum written by Richard Staines  https://pharmaphorum.com/views-analysis-patients/awareness-rare-diseases/

“A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a festival encouraging joined-up thinking to help improve treatments, care and services for people with rare diseases. pharmaphorum spoke to her ahead of RAREfest18 to find out more.

On November 30th and December 1st this year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

Although rare diseases are classed as something that affects less than one in 2,000 people, it’s not that uncommon to have a rare disease. Around one in 17 people are affected by a rare disease, and about 80% of the 6,000 – 8,000 known rare diseases are genetically derived.

That’s why Kay Parkinson, who lost two children to the ultra-rare disease Alstrom Syndrome, is trying to bring influencers together at RAREfest18 – as interactions between people from a range of different backgrounds could prove to be game-changing in the world of rare disease treatments.

In an interview with pharmaphorum, Parkinson gave an example from personal experience – when she was attending a rare disease conference she met the CEO of the Canadian pharma company Prometic.

This chance conversation resulted Prometic trialling its PBI-4050, also used in idiopathic pulmonary fibrosis and other diseases involving scarring, in Alstrom’s Syndrome.

Encouraging data from a UK-based open-label phase 2 trial of PBI-4050 in Alstrom’s Syndrome were presented at the International Liver Congress, and the European Association for the Study of the Liver, earlier this year.

There is now talk of expanding the trial to other countries, and in order to encourage this kind of lateral thinking, Parkinson launched the first RAREfest in 2015.

Parkinson said: “When I started a charity we were warned off pharma, but they turned into our greatest allies.”

The event has already attracted speakers including the late professor Stephen Hawking who had the rare disease amyotrophic lateral sclerosis, biotech entrepreneur Dr Andy Richards, and Dr Segolene Ayme, emeritus director of research at the French Institute of Health and Medical Research (INSERM).

The goal for Parkinson is to take people out of their “siloes” and thinking creatively, and to raise awareness about rare diseases among the general public.

She said: “Much of the information and summits are very siloed. You see the same people all the time. We wanted to reach the general public.”

“We felt that there was not a nucleus place for the pharma industry to show what it is achieving, and charities to show what they need.”

Improving awareness

While Parkinson is full of praise for the way pharma has supported rare disease patients, she says that there is a pressing need for more awareness amongst doctors

While specialisation in the medical profession can help with more common diseases, Parkinson says clinicians often struggle to look at patients in a holistic manner and fail to spot that a group of different symptoms are caused by a rare disease.

For example, Alstrom Syndrome is characterised by retinal degeneration, nystagmus (wobbly eyes), sensitivity to light, loss of hearing, obesity and insulin resistance.

But other features may include kidney and liver dysfunction, type 2 diabetes, fatty substances in the blood, poor cardiac function, and bladder and bowel problems.

Symptoms may develop at different stages and not everyone is affected by all of them, and even amongst siblings the symptoms can vary.

It would be easy for a clinician to treat any one of these symptoms – but to look at them together and make a correct diagnosis of Alstrom’s Syndrome is much more challenging.

This proved to be an issue while she was trying to get a diagnosis for her children, Matthew and Charlotte, who sadly died in their twenties as a result of the disease.

Parkinson said: “The individual components were diagnosed. They [clinicians] did not pick up heart disease, nobody put it all together. An eye specialist is not going to look at hearing loss. The whole thinking for rare disease needs to change.”

Patients with rare diseases are more likely to try and interact directly with pharma, or an expert in the field to try and find answers, she added.

“For rare diseases, you can’t pin your hopes on doctors, you pin your hopes on somebody developing something that’s not even there,” said Parkinson.

Rewriting the code

With so many rare diseases caused by faults in the genetic code, there is hope that technology like CRISPR offer the potential to treat the underlying cause of the disease, rewriting a patient’s genetic code to produce a cure.

There are already gene therapies on the market that use different techniques to overcome genetic diseases.

Parkinson hopes that these could lead to treatments for diseases such as Alstrom’s Syndrome but is realistic about the speed of progress.

“I hope it (CRISPR) may become an acceptable treatment. Costs will be involved, and a lot will depend on the funds going into it.”

“There will be lots of barriers to overcome. There are going to be great upsets before there are real breakthroughs. They don’t act like other diseases.”

“We have to remain hopeful as there are so few alternatives, I think huge challenges are still there as when you start intervening in humans it may take time to fully realise the implications.”

In the short term, Parkinson is hoping to drum up support, both financially and from increased awareness, for RAREfest.

While some of the events organised are based on arts and culture, Parkinson hopes they will foster an all-important dialogue between patients, doctors, pharma and wider society to help find new treatments or cures and improve care.

With organisations such as EURORDIS, the European umbrella group for a range of rare disease patient groups, and the Genetic Alliance working in a similar role at a national level in the UK, Parkinson is optimistic that progress will be made.

“Rare diseases are moving up the agenda, at least people are talking about them,” Parkinson said.

 

Pint of Science Festival welcomes rare disease!

Pint of Science Festival welcomes rare disease!

CamRARE hosts a rare disease themed pub for the annual international pint of science festival…

Pint of Science is a non-profit organisation that brings some of the most brilliant scientists to your local pub to discuss their latest research and findings with you.

In 2012 Dr Michael Motskin and Dr Praveen Paul were two research scientists at Imperial College London. They began by organising an event called ‘Meet the Researchers’. It brought people affected by Parkinson’s, Alzheimer’s, motor neurone disease and multiple sclerosis into their labs to show them the kind of research they do. It was inspirational for all involved.

They thought “if people want to come into labs to meet scientists, why not bring the scientists out to the people?” And so Pint of Science was born.

In May 2013 they held the first 3-day festival in Cambridge, London and Oxford.

Our events manager, Jo Balfour, co-hosted the Cambridge Neuroscience pub that first year in collaboration with Dr Hannah Critchlow, author of Ladybird Expert Series book, Consciousness.

Pint of Science quickly took off around the world and now happens in nearly 300 cities covering all manner of scientific topics.

We were delighted to be given the opportunity to host a rare disease themed pub in Cambridge during the festival!

The chance to host a pub, at an international festival with 19,500 twitter & 21,000 facebook followers, helped us put rare firmly on the menu

We hosted two evenings at Cambridge’s trendy drinking hole, Thirsty.  Both nights were sold out and we packed into their back room to hear about exciting research into rare disease taking place on our doorstep and personal stories of living with rare disease. Our speakers ranged from well know Cambridge rare disease expert Dr Lucy Raymond to emerging shining light, PhD student Patrick Short.  A huge thank you to all of their speakers for their fascinating talks, their personal stories and for getting involved in the fun.

For the full line up, speaker bios and talk synopses click on the links below.

Treasure Your Exceptions

Rare Disease: The Genomic Revolution, Searching for Cure for the 1 in 17

Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 4
Cambridge Rare Disease Network - Pint of Science Festival welcomes rare disease! 5

Rare Disease Day 2018 – CamRARE/NIHR lecture event

Rare Disease Day 2018 – CamRARE/NIHR lecture event

CamRARE and NIHR Cambridge Bioresource team collaborate to host a Cambridge rare disease day lecture event #ShowYourRare

Rare Disease Day takes place on the last day of February each year. The purpose is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on the lives of those affected.

Since its launch by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a substantial of media coverage. 

Following on from 2017, the theme for RDD is once again research. There has been great progress in rare disease research, often driven by effective collaborations between companies, researchers and patient advocacy groups.  Click here to find out more about the vital role patients play in the research process.

Together, CamRARE and the Cambridge NIHR Bioresource team created a programme of short talks to showcase some of the ground-breaking research  being undertaken in Cambridge into a range of rare conditions.

 

The theme of rare disease day 2018 is research.
The best research translates findings into meaningful health outcomes and  involves patients  at all stages.

#showyourrare                   #whywedoresearch

 
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Snow didn’t stop play…

Despite the snow and chilly temperatures calling for a cosy evening in on the sofa, the rare disease community came out in force to celebrate Rare Disease Day 2018 at the Uni of Cambridge School of Clinical Medicine, William Harvey Lecture theatre.  Dr. Mike More, Chair of Cambridge University Hospitals, opened the evening for an exciting mix of attendees: those living with rare disease and their family members; young health professionals and students; clinicians; company and charity representatives working in related fields and the curious. Those gathered were treated to excellent presentations about current research from a wide range of speakers based on the Cambridge Biomedical campus and in the city. See the agenda opposite for info on speakers and their talks.

We used Glisser technology at the event to encourage the audience to get involved and engage with speakers by posing questions, responding to polls and sharing slides via social media. For the speaker responses to delegate questions please see here 

CamRARE trustee helps new mums learn genomics from home

CamRARE trustee helps new mums learn genomics from home

Dr Gemma Chandratillake, CamRARE trustee and East of England Genomics Education Lead, attended the No Isolation AV1 avatar breakout workshop at the CamRARE 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?

Cambridge Rare Disease Network - CamRARE trustee helps new mums learn genomics from home 7
Image above from Cambridge Independent newspaper
Cambridge Rare Disease Network - CamRARE trustee helps new mums learn genomics from home 8
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.

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

CamRARE 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 CamRARE 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

Cambridge Rare Disease Network - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 9
Professor Gregory Winter – Cam Uni and Cambridge Antibody Technology (right), Dr Tim Guilliams – Founder and Chair CamRARE (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 - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 10
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 - CamRARE Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment 11
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