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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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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.

A simple video explaining your genome. Thanks to Great Ormond Street Hospital charity for allowing us to share.
What's the difference between genetics and genomics?

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...

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…