Select Page

DiGEN study

Dissecting the effects of genomic variants on neurobehavioral dimensions in copy number variations (CNVs) enriched for neuropsychiatric disorders.

DiGEN study

The DiGEN study is looking into two genetic disorders: 16p11.2 deletion and duplication, and the impact they have on the mental health and behaviour of children aged 7 to 17 years.

This study will enable us to learn more about 16p11.2 deletion and duplication and the development of children who have these conditions, which will help us better support families receiving this diagnosis in the future.

The collection of DNA samples will also help us to understand more about the genetic causes of these conditions.


Take part in the study

Our study allows the whole family to take part. Everyone will be asked to complete a questionnaire, and participate in an interview with our research team.

Your children will also complete some fun computerised activities and then we will ask each family member to provide us with saliva and/or blood samples.

We are recruiting participants in collaboration with a team of geneticists at Royal Manchester Children’s Hospital.

Alternatively, if your child is aged between 7 and 17 years and has a diagnosis of 16p11.2 deletion or duplication, and you would like to get involved in the study, please email for more information.


Who is involved with the study?

This study is a collaboration between the team at Manchester University NHS Foundation Trust and the team in the Division of Psychological Medicine and Clinical Neurosciences at Cardiff University.

The principal investigators are Professor Jonathan Green (Manchester) and Professor Marianne van den Bree (Cardiff).

The families who take part will be working closely with our research assistants, Charlotte Butter and Caitlin Goldie, from The University of Manchester, as well as the Cardiff University research team.


Contact us

If you have any questions about the study, please email us:


You can also contact our Manchester-based research assistants by phone:

Charlotte Butter
Tel: 07392860082

Caitlin Goldie
Tel: 07584106034