Rare genetic disorders caused by small changes in a person’s genetic make-up affect fewer than 1 in 2,000 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 14 institutions and seven countries from North America, Europe, and Africa.
In the UK, it is led by Professor Marianne van den Bree in the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University.