Making genomic understanding of Ring Chromosome 20 Syndrome possible

A collaboration between

Welcome to our UNRAVEL project page!

Here you’ll find all the information about our Ring20 collaborative project with Illumina Inc.

UNRAVEL comprises two distinct phases:

Here’s an outline of what we’ll cover during the unravel project:

Phase 1

(6-12 months)

We commenced work in January 2021 and will be delivering new information updates to you in the coming months on this website and via our social media.

Education and knowledge is power and we want to empower our r(20) patient families to make informed decisions about their participation in research and manage expectations.

Here’s an overview of some of the activities we have planned…

Understanding your Diagnosis: Genetics 101

Has anyone ever explained your r(20) diagnosis and what this means? We’ll try and unravel the mysteries of what we know and what we don’t know about r(20) syndrome.

Basics of Genomics: How might this help?

What’s the difference between genetics and genomics? How can genomics help people with r(20), both with a diagnosis and those without? We’ll try and explain what’s possible – and what’s not possible.

Fundamentals of Research: What you need to know

For many r(20) patients and families this will be their first opportunity to participate in research. There are some basic principles that we’ll try and explain to you before you get started.

Phase 2

(tbc)

The scientific partnership will work on unravelling the genomes of r(20) patients to identify new cases and develop an effective diagnostic test for the future.

Much work needs to be done before we can start this 2nd phase, not least we need to seek ethical approval and draw up patient consent forms (all part of Phase I above).

Patient Recruitment

Approximately 20 individuals with an r(20) diagnosis will be required for this study. We’ll need people from across the spectrum – male/female, mosaic/non-mosaic, children/adults etc. We will advise when and who is eligible to sign-up in due course.

Sample Collection

We will require samples from each participant and these may be simple blood samples, or possibly small skin or saliva samples. We will let you know where you will need to go to give your sample and how to send it to us.

Research and Development

Once the samples are collected, scientists can start the exciting work to see if they can ‘see’ r(20) using high performance machines using Whole Genome Sequencing, then hopefully configure computers to make new r(20) diagnoses in the future.

Results Dissemination

Those who participate in the study will receive the results of what has been found when their genome has been sequenced. Any new discoveries we make about the genomics of r(20) syndrome generally, will be published widely and may form the basis of possible new research in the future.

Meet our Unravel Champions

We are really lucky to have a core group of individuals living with r(20) syndrome and parent/carers who are helping us to shape Unravel. Get to know them a little better…

Annebelle Herbst (RSA)

Steve Baumley (USA)

Cindy Bienkowski (BE)

Tim Buckinx (BE)

Yvonne Goodson (UK)

Nicola Middleton (UK)

Dale Ward (UK)

Carl Darby (UK)

Become the first to find out more about UNRAVEL

Frequently asked questions

Here are some of the questions we often get asked about the UNRAVEL project:

Can I take part?

We will need about 20 people with an r(20) diagnosis to take part in the Illumina study. There will be eligibility criteria set out in due course, so keep checking back on this page regularly.

I thought we were doing a Natural History Study - is this different research?

We are still hoping to proceed with the Natural History and Biomarker Study with the University of Glasgow, but have had to delay the start due to the pandemic. These are 2 different research projects looking into r(20) syndrome, although they are linked. The samples required and the patient selection for the Illumina Study will be undertaken as part of the Natural History Study and the results of the genomes sequenced will be fed back into the Patient Registry that will be created.

More information on the Natural History Study will follow as it becomes available.

My daughter was diagnosed with R20 at 14 she is now 36, we were told she probably would live beyond 19 on diagnosis. Her regression in the past few years has been quite dramatic, would she be considered for the research?

We will only require a certain number of samples for the scientists to conduct their research and ideally we need a range of individuals: make/female, young/old, mosaic/non-mosaic, with deletions in the chromosome/without deletions, different symptoms or IQ levels etc..
If we have more individuals come forward than are needed (we anticipate around 20 samples will be required) then we will undertake a careful selection process to ensure the range of individuals being studied is as diverse as possible. This will help the scientists to see if/where any differences in the genome occur between individuals with r(20) syndrome and what symptoms they might correlate to.
Of course we would like as many individuals as possible to come forward and we will advise everyone when you can start to sign up.

Can you tell me more or send in mail; it's for my son and he doesn't have seizures so he doesn't exactly fit the profile for r(20) syndrome?

We will be embarking on producing lots of new information over the coming weeks and months, to help everyone to better understand what having an r(20) diagnosis means and what we do/don’t know about r(20) syndrome AND what we hope to try to find out.
We cannot unfortunately answer specifically on a case by case basis, but there will be opportunities to ask questions as we move through this education and awareness phase, where we will bring in experts to assist us in our work.

How can I find out more?

The best way is to subscribe to our mailing list above, or email us at [email protected]

Got more questions?

We’d be happy to answer them. Send us a brief message below