Rare genetic disorders caused by small changes in a person’s genetic make up affect fewer than one in two thousand people globally, but they are a major cause of developmental and psychiatric conditions, such as autism spectrum disorder, schizophrenia, attention deficit hyperactivity disorder and intellectual disability.

Recent advances in technologies to detect these small changes and data sharing between international research groups have revolutionised identification and diagnosis.

However, more detailed studies are needed to fully characterise their clinical presentation and determine the risk for particular developmental and psychiatric conditions in individuals with these rare genetic changes, such as deletion or duplication of a small fragment on chromosome 22 (22q11.2) or chromosome 16 (16p11.2).

These rare genetic disorders have large impacts, which allow researchers to interrogate the link between biological function and psychiatric symptoms.

The Genome to Mental Health (GMH) consortium is a new initiative backed by funding of nearly £4.7m ($6m) from the National Institute of Mental Health and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. It includes researchers from fourteen institutions and seven countries in North America, Europe, and Africa.

In the UK it’s led by Professor Marianne van den Bree in the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University.

Cardiff University reports Marianne van den Bree, from its Division of Psychological Medicine and Clinical Neurosciences, said “This Consortium will provide unprecedented opportunities to study rare genetic disorders as a window into the genetic architecture of mental disorders.”

The consortium is structured around four projects that will study the behavioural and cognitive symptoms in individuals with rare genetic changes that confer high risk for neurodevelopmental psychiatric disorders. Participants will be identified in hospital clinics as well as in the general population across three continents.

The research aims to fill a critical knowledge gap. Most rare variants have been studied in isolation. As a result, essential information is sprinkled across many small studies that are difficult to compare. To accelerate discovery, the GMH consortium will collate and harmonise genetic data with quantitative measures of cognition and behaviour across multiple genetic variants associated with increased risk of developmental and psychiatric outcomes. This coordinated effort across patients, families, researchers, clinicians and institutions, including rapid sharing of data, is required to translate discoveries into therapeutic potential.

It is hoped studies conducted by the GMH consortium will pave the way for subsequent studies focused on improving early detection, initiation of services, prognosis, and support for patients.

In future the clinical and genetic findings may also contribute to therapeutic targets and outcome measures of clinical trials in patients with rare variants and psychiatric symptoms.

The sites participating include Cardiff University, 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.