ECHO Study CNV research
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.
Documentary: Who knew about 22q?
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.
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.
Get in touch
If you would like to take part or find out more about the study, please contact us: