Richesson Submits R01 PA-19-056 Grant Proposal

Kudos to Rachel Richesson, associate professor, and her entire team for the submission of her R01 PA-19-056 grant proposal to the NIH/National Library of Medicine (NLM) entitled "Leveraging Formal Semantics for Clinical Phenotyping of Rare and Genetic Diseases." This proposal requests funding for a five-year period with a start date of Sept. 1, 2019. 

Clinical data can expand our understanding of clinical phenotypes for rare diseases, and facilitate earlier diagnosis and personalized treatments. However, relevant data are often in unstructured notes, where important information is documented by different providers at various levels of detail. Reference terminologies, such as The Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT) and the Human Phenotype Ontology (HPO), can be used to aggregate granular and heterogeneous data. The formal semantic relationships found in SNOMED CT and HPO can be used to construct data-driven and semantic-based clinical phenotypes. The data-driven and semantic-based clinical phenotypes can be assessed both clinically and statistically in order to estimate the specific contribution and impact of formal semantic relationships on the diagnosis and management of selected rare diseases.