July 11, 2023

The Global Bipolar Cohort and the Human Phenotype Ontology Group Collaborate for Summit

The groups came together in June of 2023 in Chicago, IL for a Summit focused on improving and expanding the inclusion of mood-related terms within the Human Phenotype Ontology Group.

Photo taken by Claudia Diaz-Byrd, M.S., during the Summit meeting.

Sponsored collectively by the Heinz C. Prechter Bipolar Program and the Human Phenotype Ontology Group, the Global Bipolar Disorder Cohort met in late June of 2023 in Chicago, IL to catalyze the development of a phenotype ontology platform to support further research in bipolar disorder (BD) and to serve as a catalyst for better diagnostics and treatment options for the disease. 

The premise for this initiative is that there is profound phenotype data residing in patient health records that holds great potential for informing care in BD, yet is underutilized, poorly organized and largely inaccessible for analysis. Consequently, widespread utilization of phenotypic information is lacking despite its clinical importance. A phenotype ontology system for BD would allow for establishing a hierarchy for placement of symptoms and terms that describe a patient’s illness. Importantly, this allows for deep phenotypic characterization of abnormalities and computational analysis of broad clinical and research data sets to stratify patients with common symptoms and features into subtypes to advance research that will lead to better diagnostics and treatment options. 

With guidance from leaders of the Human Phenotype Ontology Group, the meeting brought together leaders from a diversity of medical and scientific disciplines to begin the painstaking task of establishing this essential resource for the global community of BD researchers. The meeting brought together 45 individuals including psychiatrists, psychologists, biomedical informatics, clinical epidemiologists, computational biologists, and mental health advocates. Additionally, brief updates were provided on ongoing research activities and the continuing growth of the Global Bipolar Cohort, highlighted by new ideas and advances being spearheaded by several early career investigators.  The participants left the meeting having already established dozens of terms for inclusion in the ontology system and laid the foundation for this initiative to grow in an accelerated fashion over the next few years.