Search

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:

Got a question?

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.

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.

"Chromosome analysis came into practice in 1959, with the first demonstration that an abnormality of our Chromosomes can cause a human disease." Chromosome analysis is required to diagnose a ring chromosome. Watch this short video to find out more...
"There are lots of different ways for something to be a genetic disorder...one of them is ring chromosome 20, so that is a chromosome disorder." Watch this short video to find out more...
Introduction to a few scientific terms that might be helpful for families.

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…