UK Government Launches Rare Diseases Framework 2020

UK Government Launches Rare Diseases Framework 2020

On the 9th Jan 2021, the Department of Health and Social Care has published the UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013.

You may recall that back in Sept 2019, we held our RAREsummit event at the Wellcome Genome Campus in Cambridge.  At this event Baroness Nicola Blackwood, then government minister overseeing the new framework development, delivered a talk and called for the rare disease community to take part in the ‘National Conversation’ a survey ensuring patient and advocates were not only at the centre of designing the UK Rare Disease Framework, but also in shaping the direction for rare disease policy more broadly in the UK moving forward. You can watch her presentation here.

The survey aimed to identify the major challenges faced by those living and working with rare diseases, and received an amazing 6,293 responses, including from over 5,000 patients, families and patient organisations. This impressive response rate has enabled the UK government and the devolved administrations of Scotland, Wales and Northern Ireland to better understand what challenges were faced consistently across the community, and where differences lay between respondent groups. This information has guided the design of the Rare Diseases Framework around four key priorities:

1

Helping patients get a final diagnosis faster

and for research into previously unrecognised conditions to help identify and diagnose new rare diseases.

2

Increasing awareness of rare diseases among healthcare professionals

and increase the use of genomic testing and the array of digital tools available to support quicker diagnosis and better patient care.

3

Improving coordination of care 

Living with a rare disease often means having to face appointments with multiple different specialists across different hospitals, all in addition to accessing services such as GPs and social care. All rare disease patients should experience better coordination of care throughout their patient journey.

4

Improving access to specialist care, treatments and drugs

Very few rare diseases have established treatments, but where they do exist, access to these often-innovative therapies can prove difficult. The framework hopes to improve access to specialist care, treatments and drugs for rare disease patients across the UK.


The survey also identified several cross-cutting issues, which have also been included in the Framework as underlying themes. These are:

Continuing to champion the patient voice;

Pioneering research, so that we can harness the potential of cutting-edge science and translate outcomes into frontline clinical care.

Using digital tools, data and technology to improve efficiency, patient experience and research.

Maximising collaboration with the rare disease community in the UK and across the world to drive better outcomes for patients.

Ensuring alignment with wider policy so that rare disease issues are recognised across government.

Now that the framework is published, the focus will turn to develop the action plans to address these priorities, so we can drive real change for rare disease patients and their families. Action plans will be drawn up from each of the four UK nations, which will outline how each nation will deliver against the priorities and underlying themes in their respective health systems. It will be vital that the rare disease community is consulted, involved and listened to throughout development of these plans.

During the cross-sector hackathon as part of our RAREsummit19, teams thrashed out ideas for how they felt we might deliver on the priority themes in the Framework. We created a report to showcase some of these innovative solutions which can be viewed here. We’ll be sharing these ideas with the Dept for Health and Social Care and the teams involved in the action plan development.

Lord Bethell of Romford, Parliamentary Under Secretary of State for the Department of Health and Social Care, now leads on the Rare Disease Framework as the successor to Nicola Blackwood.

UK Rare Diseases Framework 2020
DIGITAL - CRDN Hackathon Report_6 December 2019 resize

Dr Melita Irving- The DNA Doc at RAREfest20

Dr Melita Irving- The DNA Doc at RAREfest20

Known as the DNA doctor, Melita Irving is passionate about … well, DNA! She works as a consultant in clinical genetics at Guys and St Thomas’s Hospital, specialising in conditions that affect the skeleton. Last year Melita’s book ‘The Human DNA Manual’ was published by Haynes, covering everything from how DNA catches killers to identifying long-dead kings! Who’s the book for? Anyone with DNA!

DNA Doctors Melita Irving RAREfest20

At RAREfest20 Melita will be doing a live DNA extraction, not on a human (phew!) but on a strawberry. She’ll be interviewed by Dr Lucy Mackay from Medics4RareDiseases, a charity that drives an attitude change towards rare diseases amongst medical students and doctors
in training.

We caught up with Melita ahead of  RAREfest20 to talk all things DNA…

What does a genetic scientist actually do?
Genetics impacts upon every system in the body and affects everybody! The most common type of referral into the clinical genetics service is a child who is not meeting their developmental milestones. Maybe they’re not growing as expected. Maybe they look different. Maybe they have an abnormality, like a hole in the heart. The question needs to be asked: Is this child just unlucky or could there be one single explanation that accounts for everything – and could it be genetic? Being a genetic scientist is exactly like being a detective, looking for that key clue that leads you down the right path and not being confused by any red herrings that are thrown in the way.

How has technology changed the way rare diseases are diagnosed?
There are 20,000 genes, all of which can go wrong, and there are 8000 listed genetic disorders that are classed as rare diseases. Up until very recently we’ve been absolutely hamstrung by our ability to do genetic testing for diagnostic purposes. We used to put all the clues together, do our ‘best guess’ diagnosis, see if there’s a test available and then get that test done. After all that, you find you’ve been on the wrong path the whole time. So, you’d have to come back up that path and go down another one. Rinse and repeat. It could be a very long drawn out process that never led to any answers.

However, we are now in an era where we can do high throughput genetic testing. We are able to look at all the genes in one go and focus all our attention on those we think are relevant to the story. You can go down ten different paths at the same time! We are anticipating that in the next year or so the speed at which we get to diagnosis through genetic testing will be much quicker. That’s all down to technology and whole genome sequencing.

Why are rare diseases so hard to diagnose?
Not many people know about rare diseases and there are so many of them, plus there’s no one type. You might have the same diagnosis as someone else, but the format of your rare disease is completely different.

Another problem is at medical school we are frequently told not to worry about rare diseases and concentrate on more common conditions. This means rare diseases are never fully appreciated and that bit of the ‘doctor brain’ never gets to develop. Medics4RareDiseases are pushing for more learning at medical school and in early stage careers, so rare diseases become something you must think about.

Melita Irving DNA Doc

Technology has opened up the door for a much more rapid diagnostic system for rare disease, which will mean they will be pushed up the agenda and that will encourage greater awareness.

Who is your hero and why?

Rosalind Franklin. An unsung hero who doggedly worked away at discovering the structure of DNA, didn’t get recognition for her amazing work, but didn’t make a fuss about it. I’ve seen the photograph she took that led to the understanding of DNA as a double helix. It’s a wonderful thing to behold.

Where’s your favourite place in the world and why?
This year I didn’t get to go to any the events I usually do, but I did manage to get a holiday! I went to Rhodes in Greece and it reminded me how much I love all things Greek! The sky, the sea, the food, the language. Just lying on the Mediterranean in the sunshine with the prospect of a delicious lunch on the beach is probably one of my favourite places to be.

What is your greatest achievement?
The book! I’m delighted with how it’s turned out. It looks so pretty and is accessible to people who might not know anything about DNA. If I can impart my love of DNA to other people, that would be a very fine achievement.

What are your hopes for the future of rare disease?
With all the improvements in how rare diseases are diagnosed, it would be really great if the next step was finding treatments that will make things better for patients with rare diseases. That’s where I’d like to see the future going.

Journey of Hope: Ceridwen Hughes at RAREfest20

Journey of Hope: Ceridwen Hughes at RAREfest20

“The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.”
Ceridwen Hughes, Same but Different

RAREfest saturday speaker Giles Yeo

Founder of Same but Different, Ceridwen Hughes, will lead a webinar at RAREfest20 all about the diagnostic journeys faced by parents of children with rare diseases. It’s based on the critically acclaimed film ‘Journey of Hope’, which Ceridwen directed. Here she talks to us about the importance of diagnosis, her hopes and her heroes.

RAREfest20 logo

As a parent of a child with a rare disease, what does RAREfest20 mean to you – and your child?
Awareness about Rare Diseases and the celebration of this wonderful community is really important. RAREfest is a brilliant opportunity to bring people together and share experiences, whilst also educating one another and the wider community about all things rare!

From your research and your own experience, what frustrations do parents face in their diagnostic journey? 
In our film, ‘Journey of Hope’, I think Iggy’s mum, Sarah, explained it perfectly. She said, “The diagnosis certainly doesn’t give us simplicity, but it gives us a starting point. It gives us a starting point to begin to understand what Iggy needs. Before that, we had nothing.”

 Our own diagnostic journey was relatively short. It took 11 months, but this felt like a long time to us. Sadly, for so many, it can take many more years.  The importance of diagnosis cannot be underestimated. Not only do you feel like you have something you can put a name to, but it opens doors, not least the ability to connect with others who have that shared experience and knowledge.  When I chat with parents as part of my work, we immediately have that shared bond, even if our child’s rare disease is very different. You just ‘get it’. 

There are so many barriers in place before you get a diagnosis, including from some medical professionals.  We recently gave a talk to medics. Whilst grabbing a coffee, a consultant said that he often saw patients in his clinic and, even if he knew what their condition was likely to be, he did not see a value in telling them.  This arrogance and lack of understanding needs to be addressed.  It is one of the main drivers for creating the ‘Journey of Hope’.  We wanted to open up dialogue about the importance of a diagnosis whilst also highlighting it is not the answer to all your problems. 

Does life become easier with a diagnosis?
From our experience one of the things that is important when you get a diagnosis is that you don’t only look at disease-specific information.  The answer to a problem often comes from other sources and other diseases.  Through our Rare Navigator service, we support families with any rare disease. It has been helpful in sharing ideas or solutions that others, often with very different diseases, have found works for them.  The knowledge within the rare disease community is vast and it is important it is shared across the spectrums.

 

You have spoken to and photographed numerous people with rare diseases. What have you learnt about the rare disease community?
Over the years I have spoken to so many people affected by rare disease, including parents, individuals affected and other close relatives. The word that jumps out is resilience.  The strength to keep on getting back up, even after the most incredibly difficult times, is awe inspiring. The rare disease community is always on hand to provide information, support and a big hug when needed.

Dr Giles Yeo says the biggest challenge is convincing people that understanding rare diseases benefits the whole of society. Do you agree?
Absolutely. Finding treatments for rare diseases that can be used for more common ailments is just one example.  In a world where people are often judged on what they look like rather than accepted for who they are, it makes it even more important that society is aware of rare diseases. Recognising the challenges people go through will ultimately lead to a kinder, more compassionate community. 

 One of the reasons I set up ‘Same but Different’ was to capture the person behind the condition rather than simply show their disability.  We use photography, video and written narratives that give the individual a stronger voice in their community.  Often, it’s the first time they have shared their very personal experiences. It has really helped others understand their challenges.

Who is your hero and why?
I am incredibly lucky that each day I get to work with my heroes. I know it sounds a bit corny, but my heroes are each and every parent whose child gets a rare disease diagnosis and has to carry on and fight for their child to access the treatments and support they need.  These are the parents who have to smile when they are condescended to. These are the ones who have to smile when their heart is shattering because, once again, their child is overlooked or underestimated. 

Where’s your favourite place in the world and why?
It has to be Finnish Lapland, a small ski village called Levi which is far above the arctic circle.  We had the most magical week’s holiday there.  It was the first time we went on a husky ride through the snowy forest at -21 and Isaac fell asleep on a sledge whilst we looked for northern lights.  A close second would have to be Tromso in Norway, again a magical place in the winter.

What is your greatest achievement?
Picking up the camera for the first time and having the courage to follow my dreams and change career in my 40s.  I would also say setting up an MDT for Moebius syndrome when one did not exist before.

What is your hope for rare disease?
I would hope that one day it is recognised for not being rare and, with that, people may be more willing to look at the overall impact these diseases have on health, education and the community as a whole.

Cambridge Rare Disease Network - Journey of Hope: Ceridwen Hughes at RAREfest20 1

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" 2

CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival

CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival

Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 3

For the second consecutive year, CRDN is hosting 2 rare disease themed evenings for the Pint of Science Festival. We’ll be based at the Panton Arms in Cambridge on 21 and 22 May inspiring the general public to be curious about the science and research taking place locally into rare diseases.

We’re excited to have teamed up with local rare disease charity Findacure to bring you a great selection of speakers undertaking research, delivering education programmes and raising awareness about rare disease.

“Effectively communicating science and linking it to the ‘real world’ has important benefits for both scientists and society” POS

Our speakers will explore the potential for rare disease research to help us better understand and treat more common diseases and learn about the plans for rolling out the technology and lessons learned from the 100,000 Genomes Project into the NHS.

Join in our pub quiz to win a POS pint glass and test out your own pain threshold…!

The scientists have paired with local artists who’ve created an artistic interpretation of the science. Artworks will be presented by the artist following each talk and be on display at the Creative Reactions event on 24 & 25 May at St.Barnabas Church, Cambridge 

Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 4

Your DNA Your Say!

Dr Anna Middleton (Head of Society and Ethics Research, Wellcome Genome Campus)  ‎@Genomethics 
Big Data and DNA now go hand in hand. This is pivotal for exploring the link between genes and disease. The bigger the datasets the better. Most DNA data is ‘de-identified’, i.e. names and addresses have been removed but it will soon be possible to identify a person from their DNA alone. Would this stop you donating your DNA data for research? What harms can come from this? We explore what public across the world have said and how their views are shaping policy.

Solving the Unsolved

Dr Gemma Chandratillake (Course Director, ICE Genomic Medicine programme; Education and Training Lead, East of England Genomic Medicine Centre; Clinical Genomics Specialist, Cambridge Rare Disease Network Trustee)    @GemmaChand 
On 5 Dec 2018 Health Secretary Matt Hancock announced that the 100,000 Genomes Project had reached its goal of sequencing 100,000 whole genomes uncovering new diagnoses and improved treatments for patients with rare inherited diseases and cancer.
This marks the end of a chapter rather than the end of the story and earlier this year a new target was announced for the NHS to sequence one million genomes over the next 5 years. Will delivering genomic medicine in the NHS enable better outcomes for patients and contribute to a wealth of information to drive the treatments of the future?
Cambridge Rare Disease Network - CRDN teams up with Findacure to bring a sip of RARE to Pint of Science Festival 5

Can we turn back the clock on rare premature ageing diseases?

Dr Delphine Larrieu (Group Leader at Cambridge Institute of Medical Research) 
Rare genetic premature ageing syndromes called progeria trigger the appearance of ageing signs in early childhood causing many changes to the body over time, including heart disease, bone changes, hair loss, joint and skin changes, and early death around 14 years old. Unfortunately, there is no current cure and therapies just improve the symptoms. Hear how Delphine’s team is tackling this and suggesting new treatments and how the lab’s work could also open up new perspectives into improving normal age-related pathologies.

Everybody hurts sometimes … or do they?

Dr Mike Nahorski (Cambridge Institute for Medical Research) 
Chronic pain is a debilitating condition that affects 14 million people in England alone. But scientists think the have come a step closer to understanding it – by studying a rare group of people with congenital insensitivity to pain, who feel no pain at all. Cambridge University researchers have identified a faulty gene that seems to switch pain off in some people and it is hoped the discovery could lead to new treatments for those who live with pain every day.

Creative Reactions

Elizabeth Fraser  (Printmaking/graphic design) 
Eri Ikuno (Illustrator) 
Eithne Fisher (Painting/drawing) 
Kate Grant  
(Medicine/resin/acrylic/printmaking) 
As part of the Creative Reactions project, these artists will be presenting their artwork inspired by the research of speakers in this talk series. The artwork will also be on display at our Creative Reactions Exhibition at St Barnabas Church, 24 – 25 May.

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 6
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 7
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 8
 
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 9
Cambridge Rare Disease Network - CRDN takes part in the Wellcome Genome Campus Hackathon #BioHack 10
Twitter image from the #BioHack challenges from the Wellcome Genome Campus website.

CRDN trustee helps new mums learn genomics from home

CRDN trustee helps new mums learn genomics from home

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?

Cambridge Rare Disease Network - CRDN trustee helps new mums learn genomics from home 11
Image above from Cambridge Independent newspaper
Cambridge Rare Disease Network - CRDN trustee helps new mums learn genomics from home 12
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.