From September 10-11, 2018 the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, in the person of Assoc. Prof. Kaan Boztug as Director of the LBI-RUD and head of ESID Working Party of Genetics, organized in cooperation with Marielle van Gijn (Head of Molecular Testing Working Group at ERN-RITA, a workshop on Human Phenotype Ontology (HPO) with a focus on immunodeficiencies and autoinflammatory diseases. HPO provides a standardized vocabulary to describe phenotypic (clinical) abnormalities observed in human diseases. The current situation sees an incompleteness of the phenotype vocabulary (HPO) to describe diseases as well as the representation of disease structures (OrphaNet). Therefore, the goal was to expand and correct both ontologies by defining suitable terms. For rare diseases, this is of high importance to allow the distinction of similar subtypes to support clinical decisions and subsequently ensure the correct identification of affected patients.
We were happy to welcome Prof. Peter Robinson from the Jackson Laboratory for Genomic Medicine – the inventor of HPO. Peter is well-known for his continuous effort to expand and improve HPO. He presented an introduction and the latest developments on HPO to kick off our workshop.
This hands-on workshop brought together 20 experts from different fields including geneticists, medical doctors, bioinformatics, and immunologists. After plenary discussions and presentations, participants worked in small groups on diseases of their expertise. The groups managed to correct, improve, and expand ontologies for different diseases, thereby actively contributing to the success of the workshop.
Besides the research on rare diseases and identifying their mechanisms, the LBI-RUD is actively contributing to and connected with global rare disease initiatives and serves as a hub for the Austrian rare diseases community. This workshop was a fantastic start and further strengthens collaborations with our partners in a broad and diverse network.
We want to acknowledge ESID and ERN RITA for the financial support of our workshop and thank all participants for their attendance and work during these two days.