Centre for Neuropsychiatric Genetics and Genomics

Cardiff Rare Genetic Variant Research Programme

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

The Cardiff rare genetic variant research programme, also known as ECHO, encompasses a collection of multidisciplinary researchers at Cardiff University who study the developmental pathways, health, behaviour, learning and thinking of children and adolescents who have copy number variants (CNVs).

Parents frequently tell us there is not enough information available about what to expect when their children move from one developmental stage to the next.

Our research is aiming to help these families by collecting information and using this to share new insights with them as well as clinicians, other professionals and the wider community.

We are particularly interested in hearing from people with these CNVs:

1q21.1 deletion and duplication
2p16.3 exonic deletion
3q29 deletion
7q11.23 duplication
9q34.3 deletion (Kleefstra Syndrome)
15q11.2 deletion
15q11-13 duplication
15q13.3 deletion and duplication
16p11.2 duplication
16p11.2 distal deletion
16p13.11 duplication
17q12 deletion & duplication
22q11.2 deletion and duplication syndrome

Taking part in our research

Currently, we are focussing on children with 22q11.2 & 16p11.2 deletion and duplication syndromes, however, we still encourage you to get in touch if your child has any of the above rare genetic disorders as we will be starting a new study soon.

We are interested in assessing the behaviour and psychological and intellectual functioning of children, aged 7-18, who have been diagnosed with one of these CNVs.

Typically, an assessment involves a home visit with two members of our research team. This visit includes interviews, puzzles and games. A DNA sample is also taken from you and/or your children.

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

Due to COVID-19, our assessments are currently taking place online instead of in families' homes. Online meetings will take place with two members of our research team and the families, consisting of the same format of interviews and puzzles. Instructions and equipment for taking saliva samples is posted to the families.