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International consortium receives $12M to study genetics of Schizophrenia in deletion syndrome patients

08 October 2013

An international collaboration will receive $12 million over four years from The National Institute of Mental Health of the National Institutes of Health to study the genetics of schizophrenia and other psychiatric disorders in chromosome 22q11.2 deletion syndrome, a multisystem disorder which includes birth defects and developmental and behavioural differences across the life span.

The International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome is a large-scale effort among 22 institutions across Europe, including Cardiff, North America, as well as institutions in Australia and South America.

Researchers will investigate the genetic causes for the high rates of schizophrenia and other neurocognitive disorders, including intellectual disabilities, in those who are affected with Chromosome 22q11.2 deletion syndrome.

Found in approximately 1 in 4,000 live births, 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body, including heart abnormalities that often require surgery in the newborn period, an opening in the roof of the mouth, trouble fighting infection due to a poorly functioning immune system, seizures due to low calcium, and significant feeding and swallowing issues. Affected individuals may also have additional medical issues such as breathing problems, kidney abnormalities, scoliosis, and hearing loss. In contrast, some individuals with the 22q11.2 deletion have none of these medical issues.

However, most children have developmental delays including delayed acquisition of motor milestones, learning disabilities, and significant delays in emergence of language. Moreover, some children have autism or autistic spectrum disorder, ADHD, OCD, and anxiety.

Later in life, persons with the 22q11.2 deletion are at an increased risk of developing mental illnesses such as schizophrenia, depression and anxiety.

"The funding from the NIH will provide us with the opportunity to advance the understanding of this under-recognised neurogenetic condition," said Dr Marianne van den Bree, Lead Principal Investigator, Reader at Cardiff University's Institute of Psychological Medicine and Clinical Neurosciences. "The knowledge generated can provide a window to the brain that will benefit millions throughout the world."

Beyond the potential for yielding a better understanding of a severe manifestation of 22q11.2 deletion syndrome, the results will help identify pathways leading to schizophrenia in the general population in a way that will inform novel treatments.

There is a substantial risk for developing psychotic illness in approximately 25 to 30 percent of adolescents and young adults with 22q11.2 deletion syndrome. The illness presentation and course are similar to those of schizophrenia, which occurs in the general population at a much lower rate (about 1 percent).

The Consortium sites have extensive experience in applying integrative genomic and brain-behavior strategies to study individuals with 22q11.2 deletion syndrome and schizophrenia across the lifespan, and together have provided data on 1,000 genetically and phenotypically characterized individuals with the syndrome, the largest such available sample to date.

The genomic efforts will include whole-genome sequencing in order to uncover genetic variation that may contribute to the heterogeneity of neuropsychiatric and neurobehavioral phenotypes of schizophrenia and psychosis.

"The project is an unprecedented international initiative to examine a common deletion associated with schizophrenia and elucidate its genomic and behavioral substrates," said Dr van den Bree.

Professor Michael Owen, Director of Cardiff University's MRC Centre for Neuropsychiatric Genetics and Genomics and Co-Principal Investigator said "Not only does this successful application demonstrate the genuine commitment on the part of the National Institute of Mental Health to better understand the brain and psychiatric illness, but it highlights the need for such international collaborations. In this instance, 22 clinical and five basic science collaborating sites, all with extremely dedicated clinicians and researchers who have overcome the challenges of differing cultures, languages, time zones, and healthcare systems, are working toward the common goal of improving patient care and long term outcome."

In addition to Cardiff University, participating academic sites include universities in the USA (University of Pennsylvania, Childrens’ Hospital of Pittsburgh, Albert Einstein College of Medicine, Duke University, Emory University, State University of New York Syracuse, and the Universities of California at Los Angeles and Davis); Canada (Toronto), Europe (London, Dublin, Leuven, Marseille, Rome, Utrecht, Maastricht, Mallorca, Madrid, and Geneva); Israel (Tel Aviv), Australia (Newcastle); and Chile (Santiago).



For further information, please contact:

Dr Marianne van den Bree

Cardiff University

Tel: 029 20 688 433


Cardiff University

Cardiff University is recognised in independent government assessments as one of Britain’s leading teaching and research universities and is a member of the Russell Group of the UK’s most research intensive universities. Among its academic staff are two Nobel Laureates, including the winner of the 2007 Nobel Prize for Medicine, University Chancellor Professor Sir Martin Evans. Founded by Royal Charter in 1883, today the University combines impressive modern facilities and a dynamic approach to teaching and research. The University’s breadth of expertise encompasses: the College of Arts, Humanities and Social Sciences; the College of Biomedical and Life Sciences; and the College of Physical Sciences, along with a longstanding commitment to lifelong learning. Cardiff's three flagship Research Institutes are offering radical new approaches to neurosciences and mental health, cancer stem cells and sustainable places.