Publications by authors named "J Raymond Depaulo"
Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).
Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.
Article Synopsis
- Lithium is the primary treatment for bipolar disorder (BD), but how it works and predicts outcomes is not fully understood.
- A previous study identified key cellular pathways linked to lithium response, including focal adhesion and PI3K-Akt signaling.
- In this new study, researchers confirmed these pathways in a larger group of 2039 patients but found no connection with the extracellular matrix, suggesting that issues with neuronal growth signaling may impact lithium effectiveness.
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English.
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