The Bipolar Blueprint: Translating Genetic Discoveries into Clinical Care - PsyQ Episode 9
Description
We dive into two landmark studies that have dramatically expanded the genetic map of bipolar disorder, identifying nearly 300 risk loci from over 150,000 patients. We explore the game-changing discovery of the AKAP11 gene, which provides a direct molecular link to lithium's mechanism, and unpack the complex genetic architecture that both unites and separates bipolar disorder from schizophrenia and its own subtypes. Finally, we translate these complex findings into clinical practice, discussing the current role of pharmacogenetic testing, how to counsel families about genetic risk, and what the future of precision psychiatry for bipolar disorder might look like.
Sources:
Mullins, N. et al. (2021). Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics, 53, 817-829.
O'Connell, K.S. et al. (2025). Genomics yields biological and phenotypic insights into bipolar disorder. Nature, 639, 968-975.
This is a public episode. If you would like to discuss this with other subscribers or get access to bonus episodes, visit upathak.substack.com
United States
