Researchers from the UNC School of Medicine and the Gillings School of Global Public Health have released an update on psychiatric genomic research, detailing significant findings from the past five years. The report, co-led by Cynthia Bulik, PhD, and Patrick Sullivan, MD, FRANZCP, outlines progress in understanding genetic pathways related to psychiatric disorders and sets future directions for research.
The Psychiatric Genomics Consortium (PGC), established in 2007 with global collaboration, aims to uncover genetic underpinnings of disorders like schizophrenia and depression. “The next phase of PGC science will widen the scope of genetic discoveries for multiple psychiatric disorders and their responses to treatment,” stated Bulik.
Recent advancements include genome-wide association studies (GWAS) that compare DNA samples from affected individuals to those without disorders. These studies have identified numerous genomic locations associated with conditions such as schizophrenia and major depressive disorder. In 2022, PGC researchers linked 287 genome locations to schizophrenia. By 2025, they connected 635 locations with major depressive disorder using a vast dataset.
The consortium has also explored pleiotropy—where common genetic factors influence multiple disorders—and uncommon variants affecting conditions like autism spectrum disorder and substance use problems. For instance, in 2019, researchers identified 136 genomic “hot spots” linked to various psychiatric conditions.
Substance use disorder research revealed genetic signals influencing multiple substances. The identification of these signals could guide medication development targeting expression changes caused by pleiotropic signals.
Further studies focused on copy number variants (CNVs) that impact autism spectrum disorder and intellectual disability. In 2023, CNVs were identified in genes NRXN1 and ABCB11, relevant to these conditions.
To enhance clinical care and data sharing, researchers incorporated protein data into GWAS studies. A recent study published in Nature associated bipolar disorder with specific gene expressions related to emotional processing and metabolism.
The PGC emphasizes data sharing; its GWAS data has been accessed over 154,000 times since 2021. Future endeavors aim to broaden genetic discovery scopes across lifespans and populations using diverse data sources.
The update was co-led by Arpana Agrawal, PhD, from Washington University in St. Louis School of Medicine.
