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Genetics Schizophrenia Psychosis Genomics Psychiatry Rare Variant

Recent Advances in Understanding the Genetics of Schizophrenia

Unveiling the Genetic Complexity Behind Schizophrenia

Groundbreaking genetic studies are shedding new light on the intricate genetic underpinnings of schizophrenia, a complex neuropsychiatric disorder affecting millions worldwide. Researchers have made significant strides in identifying genetic factors associated with the condition, paving the way for a deeper understanding of its causes and potential treatments.

Unveiling the Close Relationship with Other Conditions

Genetic findings have revealed a close relationship between schizophrenia and other neurodevelopmental disorders, such as autism and intellectual disability. Studies have identified shared genetic variants across these conditions, suggesting a common genetic architecture.

The Role of Rare and Common Genetic Variants

Large-scale genetic studies have revealed that both rare and common genetic variants play crucial roles in schizophrenia. Rare variants with large effects, such as copy number variations and disruptive mutations, can increase the risk of developing the disorder. Common variants, each with small effects, also contribute to the genetic risk for schizophrenia.

Identifying Candidate Genes and Pathways

Fine-mapped candidates have been enriched for genes associated with rare disruptive coding variants in schizophrenia. These genes are involved in various biological pathways, including neurodevelopment and synaptic function. By studying these pathways, researchers hope to gain insights into the molecular mechanisms underlying the disorder.

Latest Genomic Discoveries

The latest GWAS (genome-wide association studies) from the Psychiatric Genetics Consortium, available as a pre-print, indicates that 270 distinct genetic loci are associated with schizophrenia. These findings expand our knowledge of the genetic architecture of the disorder and provide valuable leads for further research.

Toward an Etiological Theory

Recent genomic research on schizophrenia has identified nearly 300 common genetic variants and over 20 rare genetic variants associated with the disorder. Together with functional studies, these findings are paving the way for a pathway from genomics to an etiological theory of schizophrenia, which will ultimately advance the development of more effective treatments.


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