Hi everyone – it has been a while since we’ve been in touch about our UNRAVEL project, so before we kick off with lots of great new information to be added to our website, here’s a quick reminder…
You may remember earlier this year we announced Ring20’s partnership with Illumina Inc to embark on a brand new co-created project called UNRAVEL: Making genomic understanding of Ring Chromosome 20 Syndrome possible, but what does this actually mean to you and why should you be interested?
There are some things that we DO KNOW about Ring chromosome 20 Syndrome (r(20) syndrome), but there’re lots more that we DON’T YET KNOW.
We want to take you on a journey of discovery and hopefully by the end of the project, help answer 2 key questions:
- Why are there so few diagnoses of people with r(20)? Why does this matter to those diagnosed, as well as those undiagnosed? And
- What is genomics? What can it tell us about r(20) that may help identify more people with r(20) and potential treatments?
We know that our member families want more research into r(20). Ultimately, they want more targeted treatments for themselves or their loved ones, so they can lead better lives. But why isn’t this happening? And what can we do together to change this?
R(20) is a very complex condition – biologically. And diagnosing a ring chromosome is tricky. Scientists have much more to discover; for example, what makes the chromosome form a ring shape and why does the ring shape cause the problems that we see in people living with r(20) syndrome e.g. seizures, behaviour problems and/or intellectual impairment or even decline? Also, why do some people with a ring chromosome 20 not have the same symptoms? Only once scientists understand the root cause of the problem, can they start to work towards finding solutions.
Our UNRAVEL project is broken down into 2 phases:
- Phase I – Education and Awareness
- Phase II – Research
Phase I focuses on educational activities for r(20) patient families to try to answer questions about their own diagnosis from a genetic perspective.
- Step One will start from the very beginning – Understanding your Diagnosis: Genetics 101. To bring everyone on the same page, we will start with some core concepts, explaining what Chromosomes, DNA, genes are. We know that not all families have had an explanation of what a ring chromosome actually is. Or the different types of r(20) – and crucially, which type affects them.
- Step Two will follow to explain the Basics of Genomics and how looking at the human genome (rather than just the genetics) of people with r(20) might help us.
- Steps Three to Five will introduce r(20) families to the Fundamentals of Research, Ethics and Consent. We know that the majority of our families have never been involved in a research project before, so we want to prepare them for what to expect.
Our hope is that at the end of Phase I, our r(20) families will be primed and ready for Phase II – Research.
We have lots of interactive information broken down into bitesize chunks that will be shared with you over the coming weeks and months, so stay tuned to your emails and social media. All information will be available on our website.
We hope you enjoy staying with us on our UNRAVEL journey of discovery together.