Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders (DiGEN)

 Genetics / Posted 4 months ago

The aim of the study is to create an international database of psychiatric and cognitive data on children with 22q11.2 deletion, 22q11.2 duplication, as well as 16p11.2 deletion and duplication. The project is led by the Children’s Hospital of Philadelphia. Cardiff University is the coordinating site for the United Kingdom.

  • Inclusion Criteria : Children age 7-17, with 22q11.2 deletion or duplication, and 16p11.2 deletion or duplication. We are also interested in seeing the biological parents of the child with the deletion/duplication, as well as any siblings, age 7-17.
  • Study start date : 01/09/2019
  • Study end date : 31/03/2024
  • Wales-Based Study Contact : Research Associate, Jessica Hall - CNVResearch@cardiff.ac.uk
  • Principal Investigator : Prof. Marianne van den Bree

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