New Scientist magazine – Rare diseases campaign

New Scientist magazine – Rare diseases campaign

Cambridge Rare Disease Network - New Scientist magazine - Rare diseases campaign 1

The campaign is dedicated to raising awareness of rare diseases and features exclusive content from key thought leaders (including M4RD!). It discusses the importance of collaboration in rare disease and the potential silver linings that can be found in the midst of a pandemic.

Cambridge Rare Disease Network - New Scientist magazine - Rare diseases campaign 2
Cambridge Rare Disease Network - New Scientist magazine - Rare diseases campaign 3

“Jo, Rebecca and I came together in March in a mutual wish to make sure we learn everything we can about how the pandemic has affected those with rare diseases and rare disease services. This not only includes risks such as halting of treatments but also opportunities such as the overnight opening up of networks by using digital communication.

From some initial discussion Action for Rare Disease Empowerment (ARDEnt) has grown – a collaborative multi-stakeholder group from across different sectors and industries. Because if we can’t all come together for rare disease now, when will we?”

Dr Lucy McKay

Cambridge Rare Disease Network - New Scientist magazine - Rare diseases campaign 4

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 “RAREfest20 is a unique event that drives better science”

RAREfest saturday speaker Giles Yeo

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

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" 5

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

RAREsolutions 2020: Change by Design – STEM poster Competition for young people

Cambridge Rare Disease Network - RAREsolutions 2020: Change by Design - STEM poster Competition for young people 6
Hannah & Nicole, the winners of the RAREsolutions competition 2018 with Jonathan Milner

Enthusiasm, Curiosity, Initiative

Winners of RAREsolutions poster design competition 2018 share their insights for this year’s challenge!

If you take a sprinkle of artistic talent and a splash of passion for medicine and health, you have a winning formula for success! Nicole and Hannah pooled their talents to produce a brilliant entry for our first ever RAREsolutions STEM poster competition, impressing the judges with their creativity and determination for making a difference.

 

RAREsolutions20 poster design competition logo

RAREsolutions is a poster competition with a conscience, pushing for change by design. It’s part of the RAREfest20 rare -disease inspired festival and is open to anyone in Years 7-13.  All you have to do is watch the RAREsolutions challenge videos, pick the one that inspires you most, and go for it.

As we launch our new and exciting RAREsolutions 2020 STEM competition, let’s hear from the dynamic duo who scooped the prize last time.

Hannah & Nicole share their thoughts about the RAREsolutions design competition

Why did you enter the competition?

Hannah: We found out about the RAREsolutions poster competition in our school bulletin. I was immediately drawn to take part as it really struck a chord with me, having recently learnt about genetics in biology. I have a real passion for medicine and health! I knew instantly I wanted to take part with my friend Nicole, who is really good at art and design. Combining our talents and being able to work collaboratively really appealed to us. It’s not often we get to work as a team!

What inspired your design?

Nicole: The first steps was to decide which challenge we wanted to design a poster for. On the CRDN website there were three different challenges set from people with rare conditions. They asked us to create innovative solutions to help them live more independent lives.

Hannah: The one that really resonated with us came from Eilidh. The quest to make playtime more fun and accessible. Eilidh has KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder. This can impair or alter growth and development of the brain and central nervous system.

What research did you do?

Nicole: We had a few weeks to research the condition, contact Vaila (Eilidh’s Mum), find a solution and design the poster. It was amazing to take part in a project that combined science, research skills and design.

Hannah: RAREsolutions was not dry like the usual essay writing competitions and gave us the change to come up with a real-world solution. Life can throw up all sorts of accessibility challenges for those living with sensory and physical disabilities, but actually they are people just like you and me. They want to live life to the full, but the environment makes that tough.

I’d recommend taking part in this competition to anyone. It not only helps patients with rare diseases live better lives, but also changes your own life!

Hannah

Winners of the RAREsolution 2018 competition

You presented your winning idea at RAREfest18. How did that feel?

Nicole: We were hugely proud of our achievement but also daunted at the idea of presenting to an audience of genetic experts, having only previously made presentations at school!

Hannah: It really helped having each other for support. We put together a presentation and also produced a tri-fold leaflet. It was a fantastic opportunity to stand up in front of an audience of people from the rare disease community, ranging from genetic scientists to patients and their families. It was an incredible experience!

How has this competition changed your lives?

Nicole: It has really inspired me to find out more about how rare disease affects patients, not only the biology aspect also the social implications and how people can be marginalised. Taking part in the competition gave me more confidence and led me to focus on eugenics for my Year 12 project.

Hannah: On the day itself, we met some great people and made some really useful contacts for the future. I found myself having a conversation with someone from the Stem Cell Institute, which prompted the subject for my Year 12 research project about stem cell treatment and therapies for Type 1 Diabetes.

The RAREfest20 RAREsolutions poster competition is now LIVE!

RAREfest20 logo

RAREsolutions poster competition is part of RAREfest20, a vital, vibrant, virtual festival that champions the rare disease community, bringing together the brightest scientific minds, the most innovative tech, the medical pioneers and, of course, the patients, who are as unique as the festival itself.

2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

2019 Rare Disease Day Cambridge Lecture

Put over 150 passionate and motivated people together to talk about rare disease research and you can expect a fascinating evening. 

That’s just what happened at the recent public evening, hosted by Cambridge Rare Disease Network in collaboration with the NIHR BioResource for Translational Research at Addenbrooke’s Hospital to mark International Rare Disease Day 2019.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 7
Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 8

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma ChandratillakeCRDN Trustee (pictured left)

Full agenda and biographies from the day. Click on the links below to view the audio and presentation slides for each talk.

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 9

Welcome Address
Prof. Patrick Chinnery
NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 10

Improving Patient Health in CNO and SAPHO
Dr. Jagtar Singh Nijar
NIHR Clinical Lecturer in Rheumatology, University of Cambridge

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 11

Whole Genome Sequencing for susceptibility to infectious disease
Dr. James Thaventhiran
Consultant Clinical Immunologist, University of Cambridge (slides and audio not available)

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 12

Next Generation Children Project – Rapid Genome Sequencing for critically ill children
Dr. Isabelle Delon  Clinical Scientist, EMEE Genomic Laboratory

Cambridge Rare Disease Network - 2019 Rare Disease Day Cambridge Lecture 13

Imaging in the diagnosis of Rare Diseases
Dr. Tomasz Matys
University Lecturer and Honorary Consultant in Radiology, University of Cambridge

Screenprinting for RAREfest & Unique Feet

Screenprinting for RAREfest & Unique Feet

Screenprinting for RAREfest & Unique Feet

The RAREfest logo comes to life…

Our Graphic Designer has been to summer school, learning to screenprint at Cottenham Village college under the tuition of Ricki Outis – local textile and community artist.

The set up was not commercial so everything was done in a way that was possible to set up at home in a garage, or on a kitchen table, and where all masks and templates are made with paper.

The RAREfest logo offered the perfect opportunity to try out the process of printing with multiple colours and needing to get the registration of all 4 colours as close to each other as possible.

So she cut out four masks, one for each colour, mixed in ink to match the RAREfest colours and away she went – hoping that the logos would work well enough to be useful.

We’re really pleased with the results and are excited to see what she makes for our Unique Feet group…

Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 15
After the first mask is removed 
Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 16
First colour done, 3 to go 
Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 17
Second and third colours having been added 
Cambridge Rare Disease Network - Screenprinting for RAREfest & Unique Feet 18
9 RAREfest logos ready to be used

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