Science

Cardiff University involved in global effort to investigate link between rare genomic disorders and psychiatric conditions

DNA (source: TheDigitalArtist via Needpix)

By Shannon Budden

Cardiff University is to take part in the “Genome to Mental Health” international consortium, backed by the National Institute of Mental Health and the Eunice Kennedy Shriver National Institute of Mental Health and Human Development.

The consortium comprises researchers from 14 institutions globally and is led in the UK by Professor Marianne van den Bree, who works at Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics.

The research will involve looking at rare genetic disorders, caused by minute changes in someone’s genetics and the prevalence of coinciding psychiatric conditions. 

These disorders affect fewer than 1 in 2,000 people globally, equivalent to 0.05% of the population, but are considered a major cause of developmental and psychiatric conditions such as schizophrenia, autism and ADHD. 

Currently, more studies are needed to build a clearer picture on the clinical presentation of these disorders and the potential risk for development of psychiatric conditions.

Rare genetic changes in an individual, such as deletion or duplication of chromosome 22 or 16, can have a big impact on biological function, allowing researchers to investigate potential links to psychiatric health.

The Genome to Mental Health consortium involves four projects that aim to study the symptoms in individuals that signal high risk for development of psychiatric disorders, with participants identified amongst the general population and in hospital clinics across three continents.

The aim of the project is to shed light on the current knowledge gap. Past studies have been conducted in isolation, resulting in many small, difficult to compare studies. The goal is to conduct effective sharing of knowledge across institutions, researchers, patients, families and clinicians in order to overcome this.

With this wider approach it is hoped that the research carried out by the consortium will lead to further studies focused on improving diagnosis and care for patients, with the eventual goal of leading to better clinical outcomes. 

In addition to Cardiff University, participating institutions include: the University of Pennsylvania, Children’s Hospital of Philadelphia, University of California Los Angeles, The Hospital for Sick Children (SickKids), the University of Toronto, Sainte Justine Pediatric Hospital Montreal, University of California San Diego, Geisinger, Washington University – St. Louis, University of Washington, Boston Children’s Hospital, Harvard Medical School, Maastricht University, University of Leuven, University of Cape Town and Red Cross War Memorial Children’s Hospital, Cape Town.

 

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