Ewch i’r prif gynnwys

ECHO Study CNV research

Mae'r cynnwys hwn ar gael yn Saesneg yn unig.


Researching better understanding of developmental genetic conditions.

Some people are born with genetic changes called 'Copy Number Variants' (CNVs). In some cases a section of their genetic code might be repeated (a duplication), and in other cases a section might be missing (a deletion).

CNVs are a common genetic condition. Some have little or no effect, and some can be beneficial, for example, giving people better resistance to certain illnesses.

However, other CNVs can cause developmental problems and learning disabilities, and may lead to a higher chance of experiencing mental health problems such as autism, ADHD, anxiety disorder or schizophrenia.

Our research is supported by leading CNV charities and campaign groups, including Maxappeal, 22Crew and Unique.

Documentary: Who knew about 22q?

Watch the documentary Who knew about 22q?

Get involved

We are working to better understand the development of people with Copy Number Variants (CNVs). Our insights will contribute to better support and care in the future.

Take part in this study

We are interested in assessing the behaviour and psychological and intellectual functioning of children and adults who have been diagnosed with a chromosomal condition.

Find out how you can get involved

Make a donation

We visit families at their homes for maximal comfort. This means the ECHO study team travels all over the UK.

Your donations will allow us to visit more families more quickly, helping us collect the information we need. We can then share our insights sooner, helping families and adults with these conditions.

Make a donation

Get in touch

If you would like to take part or find out more about the study, please contact us:

ECHO Study Research Team

Principal Investigators

Marianne van den Bree

Marianne van den Bree

Professor, Division of Psychological Medicine and Clinical Neurosciences

+44 (0)29 2068 8433