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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

We are interested in assessing the behaviour and psychological and intellectual functioning of children and adolescents, 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. Families can also take part by coming to Cardiff, and we offer hybrid options using Zoom. A 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 Unique, Cerebra and Maxappeal.

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Get in touch

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

CNV Research Group

Principal Investigators

Marianne van den Bree

Marianne van den Bree

Professor, Division of Psychological Medicine and Clinical Neurosciences

+44 (0)29 2068 8433