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UNRAVEL Phase I

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.

Genomics: A new way of looking at r(20)

Using genomic sequencing techniques is a new way of looking at r(20) that hasn't been done before...
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My genome sequence (part I)

A simple video explaining your genome. Thanks to Great Ormond Street Hospital charity for allowing us to share.
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Genetics vs Genomics

What's the difference between genetics and genomics?
1 Mins
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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.

Chromosomal Micro Array

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...
3 Mins
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A matter of diagnosis, and why diagnosis matters

"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
5 Mins
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How to diagnose r(20) syndrome

Watch this video to find out...
2 Mins
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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…

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