Have a look at the videos, blogs and interactive tools on this page that we have created to help you UNRAVEL the mysteries of r(20) syndrome.
New updates will be regularly added below, so keep coming back for more information…

On this page:

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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.

Here we explain the different parts of the chromosome, which can be important when trying to understand your test results...
Follow Zara and Otsi as they chat about what we DO know and what we DON'T yet know about r(20) syndrome and where we are heading...
What do we mean by mosaic or non-mosaic r(20)? These short videos will explain the difference...
Chromosomal Micro Array is so much more sensitive than karyotyping...except for when looking for a ring chromosome diagnosis. Watch this video to find out...
"We have introduced a problem by advancing technology that looks in increasingly smaller detail at the chromosomes, genes and genome but fails to see the bigger picture – the ring." Read the full blog, written by our CEO, Allison
Watch this video to find out...

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.

More information coming soon…

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.

More information coming soon…

Ethical Approval

Ethical approval is required for any new research to ensure patients and their families are protected. We’ll be starting this process as soon as possible.

More information coming soon…

Consent Forms

Before you sign-up to any research study you need to provide your consent, so we’ll be preparing consent forms in readiness for Phase II.

More information coming soon…