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Sep - Melissa Haendel

Speaker: Melissa Haendel

Talk Title: “Power to the patient: an ontological approach for patient-clinician collaboration on rare disease diagnosis”

Event Details


Thursday, Sept. 13, 2018 6:00pm

Affiliation: Associate Professor of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University

Web-site: Melissa Haendel

Twitter: @ontowonka


Melissa’s research focuses on “data translation” to weave together healthcare systems, basic science research, and directly from patients through development of data integration technologies, innovative communication strategies, and collaborative education and outreach. Her PhD training was in molecular development genetics and neuroscience, with post-doctoral work in toxicology. She has since had a strong focus on the development of community ontologies and data standards and policies related to open science. She currently leads projects such as the Monarch Initiative, focused on utilizing model and non-model organism data for disease discovery and diagnosis; and the Center for Data to Health, which aims to create data interoperability, data sharing technologies and policies, and collaborative innovation across the US Centers for Translational Science Awards (CTSAs).


Analysis of genotype and phenotype information together can be critical for informing disease diagnoses. While clinicians can observe and test for patient phenotypes, the patients themselves are often the best sources of information about their own symptoms and phenotypes. However, the complexity of medical terminology can often pose a barrier to patients, making it difficult for patients to accurately perform self-phenotyping. To reduce this barrier, our group created a ‘layperson’ translation of the Human Phenotype Ontology (HPO) and a freely available, online application for patients and families to describe their own phenotypes in HPO terms. Here we describe the diagnostic capability of the lay-person HPO using semantic similarity based methods to better understand the potential utility of such a tool in patient-clinician collaborative phenotyping and diagnostics.

Please note:

Trainees are invited to meet with the VanBUG speaker for open discussion of both science and career paths. This takes place 5:00-5:45pm in either the Boardroom or Lunchroom on the ground floor of the BCCRC

Introductory Speaker: Phil Richmond (PhD Candidate, Wasserman Lab, Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital Research Institute, UBC)

Title: “Short tandem repeats in rare genetic disease”

Webcast Link:

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