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

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

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 CRDN’s RAREfest20
RAREfest20 logo

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" 1

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 2

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.

 

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack

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.

Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 3
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.

Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 4
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 5
 
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 6
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 7
Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

And the overall winner of our #CRDN2017 Patient Journey poster competition is…

And the overall winner of our #CRDN2017 Patient Journey poster competition is…

Suzanne Morris of Cambridge and Lynn Laidlaw have collaborated, using Suzanne’s graphic design skills and wonderful artistic vision, to create a patient journey poster submission for the Cambridge Rare Disease Summit 2017 for the Vasculitis UK charity, Suzanne and Lynn both have has Behçet’s Disease and volunteer for the charity.

We are delighted to announce that the Vasculitis UK poster has been nominated as the best overall design for it is incredible creativity and impact.

Judges said “The novel way in which the journey was portrayed using the characters from Cluedo really cleverly draws you in and is extremely memorable. Congratulations to all of you for your contribution to this – you should be very proud!!”

To learn more about how the poster was conceived and it’s message read on here and view the full poster here.

Cambridge Rare Disease Network - And the overall winner of our #CRDN2017 Patient Journey poster competition is... 8

We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

At an EU Conference in 2013 Kay Parkinson displayed a poster of the many conditions affecting Alström patients. Kay is CEO of CRDN, founder of Alström UK and CEO of Alström Europe and a passionate rare disease advocate. The poster was spotted by chance by the CEO of Prometics who noted that in this syndrome, fibrosis of unknown aetiology develops in multiple organs. As a result, after overcoming barriers, they carried out the first UK clinical trial for their PBI-4050 fibrosis treatment. The drug gained EU and US Orphan drug status this year.

We launched our #CRDN2017 Patient Journey Poster callout to give others this opportunity to have maximum exposure to pharmaceutical and biotech companies, trusts and clinicians to share information, explore possibilities and ultimately foster collaborations.

 

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 9
Individuals, advocacy groups and charities have risen admirably to this challenge to create an outstanding collection of over 50 posters and accompanying patient journeys – as timelines, poems and stories to bring the science alive.

Come and see the exhibition at #CRDN2017 on 23 Oct. Meet the poster creators, learn about rare diseases and look for collaborations. On display and as part of your delegate handbook to take away you’ll see posters about:

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 10

The full list here:

Tay Sachs and Sandhoff, Mal de Debarquement Syndrome, Ataxia, Charcot Marie Tooth Disease,  Familial cold autoinflammatory syndrome type 2, Xeroderma Pigmentosum – XP, Hyper IgD Syndrome (HIDs), Trisomy 13/18, Vasculitis, Leber Hereditary Optic Neuropathy, Lipodystrophy, pemphigus/pemphigoid, Stiff Person Syndrome, Gitelman Syndrome, Complex Regional Pain Syndrome, Pitt Hopkins, Lymphangiomatosis/Gorham Stout Disease, Genetic Overgrowth PIK3 , HSAN1E, Akinetic Crisis in the autosomal dominant LRRK2 (G2019S) Parkinson’s Disease, Alkaptenuria AKU, Blounts Disease, Sotos Syndrome, Aarskog Syndrome, Kawasaki Disease, Ring Chromosome 20 Syndrome,  Wyburn-Mason syndrome, Acromegaly, Wilson Syndrome, CSF Leaks, Bardet-Biedl Syndrome, Duchenne Muscular Dystrophy, UPS, Hereditary Spastic Paraplegia with a few more to come…

Through to the Finals!

Through to the Finals!

Havas Life Medicom a ‘specialist led, unified communications agency delivering connected healthcare communications, informed through fresh insights, smart thinking and inspired ideas’ have been supporting CRDN pro-bono over the last year in creating communications materials for our annual summit. They have done a superb job of listening to our needs, working with our small team and the odd hours they keep due to other work commitments, and in designing high quality promotional and delegate materials.

Havas Life Medicom entered CRDN’s Summit 2016 into the Communiqué Award’s 2017 and we’ve had the exciting news that it has been nominated as a finalist! This is a great privilege as these awards, and in particular, the ‘Excellence in Communications via a Live Event or Stand-Alone Activity’ category which the 2016 Summit was entered in, are always extremely competitive, so we will be up against some tough competition. Being shortlisted is a real achievement and we are all be very proud. The awards ceremony in on 6th July 2017, so we will keep you posted through social media.

Cambridge Rare Disease Network - Through to the Finals! 11
Cambridge Rare Disease Network - Through to the Finals! 12

Finalists in the Communique Awards for Excellent in a Stand-Alone Activity

Finalists in the Communique Awards for Excellent in a Stand-Alone Activity

Cambridge Rare Disease Network - Finalists in the Communique Awards for Excellent in a Stand-Alone Activity 13

We were delighted to receive the wonderful accolade of becoming finalists in the Communique Awards 2017 for our #CRDN2016. 

Our conference director, Jo Balfour, attended the awards ceremony in London with the team who supported us to develop the summit communications and marketing materials, HavasLife Medicom.

Congratulations to the winner of this category, ‘From clinical trials to real-world evidence: lessons from a cross-speciality approach’.

For the full article, the winner and other entries read more here.

Cambridge Rare Disease Network - Finalists in the Communique Awards for Excellent in a Stand-Alone Activity 14