The Psychiatric Genomics Consortium (PGC) is an international

consortium A consortium (plural: consortia) is an association of two or more individuals, companies, organizations or governments (or any combination of these entities) with the objective of participating in a common activity or pooling their resources for ...

of scientists dedicated to conducting meta- and mega-analyses of genomic-wide genetic data, with a focus on

psychiatric disorder A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitt ...

s. It is the largest

psychiatric Psychiatry is the medical specialty devoted to the diagnosis, prevention, and treatment of mental disorders. These include various maladaptations related to mood, behaviour, cognition, and perceptions. See glossary of psychiatry. Initial psychi ...

consortium ever created, including over 800 researchers from 38 countries as of 2019. Its goal is to generate information about the genetics of psychiatric conditions that will be "actionable", that is, "genetic findings whose biological implications can be used to improve diagnosis, develop rational therapeutics, and craft mechanistic approaches to primary prevention". The consortium makes the main findings from its research freely available for use by other researchers.

History

The PGC was founded in early 2007, originally as the Psychiatric Genome Wide Association Consortium. One of its founders was Patrick F. Sullivan (

UNC School of Medicine The University of North Carolina School of Medicine is a professional school within the University of North Carolina at Chapel Hill. It offers a Doctor of Medicine degree along with combined Doctor of Medicine / Doctor of Philosophy or Doctor of M ...

), who now serves as its lead

principal investigator In many countries, the term principal investigator (PI) refers to the holder of an independent grant and the lead researcher for the grant project, usually in the sciences, such as a laboratory study or a clinical trial. The phrase is also often us ...

. It was initially a branch of the Genetic Association Information Network, a public-private partnership aimed at researching the genetics of human disorders in general. For its first four years of existence, the PGC focused on

autism spectrum disorder The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder, neurodevelopmental condition (or conditions) ...

attention-deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by excessive amounts of inattention, hyperactivity, and impulsivity that are pervasive, impairing in multiple contexts, and otherwise age-inap ...

bipolar disorder Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each. If the elevated mood is severe or associated with ...

major depressive disorder Major depressive disorder (MDD), also known as clinical depression, is a mental disorder characterized by at least two weeks of pervasive low mood, low self-esteem, and loss of interest or pleasure in normally enjoyable activities. Introdu ...

, and

schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...

. It also initially focused only on finding common

single nucleotide polymorphisms In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently larg ...

that were associated with psychiatric disorders. Since then, it has expanded its scope to include other disorders, as well as less common forms of

genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, ...

such as

copy number variation Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of d ...

Findings

Research from the PGC has shed light on the

genetic architecture Genetic architecture is the underlying genetic basis of a phenotypic trait and its variational properties. Phenotypic variation for quantitative traits is, at the most basic level, the result of the segregation of alleles at quantitative trait l ...

of psychiatric disorders generally, as well as demonstrating the viability of the genome-wide association approach for specific disorders such as schizophrenia and bipolar disorder. The consortium has also identified 108

genetic loci In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total ...

that are consistently associated with schizophrenia. In addition, its findings have pointed to significant

pleiotropy Pleiotropy (from Greek , 'more', and , 'way') occurs when one gene influences two or more seemingly unrelated phenotypic traits. Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene. Mutation in a pleiotropic g ...

across psychiatric disorders, with many common

allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

s influencing the risk of multiple such disorders.

References

External links

* {{authority control Genomics International organizations based in the United States Organizations established in 2007 Population genetics organizations Psychiatry organizations Technology consortia