Project Type(s):
Clinical Research

Schizophrenia (SCZ) and bipolar disorder (BPD) are among the most heritable psychiatric conditions, yet their genetic foundations remain poorly understood. Historically, unraveling these disorders’ genetic architectures was limited by inadequate technology. However, breakthroughs in next-generation sequencing have recently produced expansive genomic datasets—including those from the Psychiatric Genomics Consortium (PGC)—for SCZ and BD. Simultaneously, genomic foundation models—advanced large-language models (LLMs) trained on biological data rather than corpuses of text—have emerged as next-generation artificial intelligence platforms that offer unparalleled abilities to predict the functional effects of genetic variants, many of which were previously unclassified. This proposal harnesses these models to analyze publicly available PGC genomic datasets, aiming to annotate both common and rare genetic variants associated with SCZ and BD, pinpoint disease-associated genes, and map the biological pathways they influence. By bridging these recent advances in artificial intelligence with robust genomic data, this proposal seeks to illuminate the genetic underpinnings of SCZ and BPD. The anticipated insights promise to deepen our understanding of heritable psychiatric conditions, laying the groundwork for enhanced diagnostics and novel therapies aimed at biology, rather than nosology

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