Registration Program Industry Workshop

Importance of Terminologies and Ontologies in Medical Knowledge Curation

Clinical science and translational research are creating and using ever-increasing amounts of heterogeneous clinical data and scientific information. Ontologies are systematic representations of knowledge that are often used in biomedicine for integration and analysis of large amounts of heterogeneous data - a prerequisite to allowing precise classification of clinical abnormalities, diseases, and patients.

In this presentation I want to give an impression of the challenges the field has been confronted with during recent years in the field of rare diseases, genomics, and clinical findings. I will sketch out how ontological modelling has helped us to solve such issues on a global scale and what tools are enabled by this to help clinicians and researchers world-wide

Dr. Sebastian Köhler

Sebastian Köhler has studied bioinformatics at the Freie Universität Berlin and wrote his PhD in Prof Peter Robinson’s Lab at the Charité Berlin. As a postdoctoral researcher and Junioprofessor at Charité and BIH, he has been working on complex network analysis and knowledge representation using semantic web techniques and machine learning in order to gain a deeper understanding of genotype-phenotype relationships. He is a co-founder and one of the major developers of the Human Phenotype Ontology (HPO) and has published several computational tools that enable phenotype-driven analysis of patients, diseases, and genomic variation. A related project on which he worked is the semantic interoperability of phenotype and disease information across different species to enable the computational integration of model organism data for interpretation of human pathobiology.

He is currently working as an Information Architect at Ada Health GmbH. He is a member of the Monarch-Initiative and involved in the Global Alliance for Genomics and Health (GA4GH).