1st Sickle Cell Disease Ontology Workshop (2016)

The 1st Sickle Cell Disease Ontology Workshop was held in February 2016 in Cape Town. Two reports below summarize the workshop proceedings.

Report 1

Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease


Report 2

Standardizing and structuring knowledge about Sickle Cell Disease

by Amy Geard

Sickle Cell Disease (SCD), a hereditary condition causing an abnormality in the structure of haemoglobin, is the most common monogenic disease worldwide.  Despite global research initiatives addressing various aspects of the disease, there is yet to be a substantial impact on improving the diagnosis, treatment, and quality of life for most patients globally.  This is largely due to lack of appropriate diagnostic and medical resources.  In addition, poor coordination and standardization of data and terms used in research hinder accurate dissemination and application of important findings.  It is for these reasons that H3ABioNet, in collaboration with Sickle Pan African Network (SPAN), created the Sickle Cell Disease Ontology (SCDO) Working Group to develop a SCD-specific ontology, under the leadership of Professors Nicola Mulder and Ambroise Wonkam.

Geographical distribution of 1st Sickle Cell Disease Ontology workshop participants.

The first day of the workshop commenced with a keynote presentation from Professor Kwaku Ohene-Frempong, who introduced SCD and progressive perceptions of the disease in various parts of Africa.The SCDO Working Group and specialists in ontology development recently teamed up in Cape Town, South Africa, for a Sickle Cell Disease Ontology (SCDO) workshop.  The focus of the workshop was to facilitate coordination and cooperation of participants from around the world, in order to contribute their knowledge to core aspects of SCD ontology; including diagnostics, therapeutics, quality of life, disease modifiers, disease stage, and phenotype.  Thirty-six participants attended the workshop, encompassing expertise in ontology curation, development, and SCD.  Focus groups with expertise in particular areas were created to deal with each of the core aspects.  A draft SCDO was created, prior to the workshop, for which I was the main curator.  It was from this draft ontology that the participants worked.

From this presentation, it became clear that the extent of the problem posed by SCD is far greater and more severe than imagined.  Other presentations introduced topics like the concept of an ontology, the process behind ontology development, examples of other disease-specific ontologies and their uses in the biomedical field.  Once the participants were totally enthralled by this new venture, the hard work began.

The next two days involved immense effort as participants debated the relevance of terms in the context of SCD, the descriptions and defining properties, as well as the overall layout of the respective classes to which terms were assigned.  Decisions made within the individual focus groups were extensively discussed with the entire workshop until a collaborative decision was made.  The excitement and passion among the group was palpable, as this represented ground breaking work in the field of SCD!

Attendees of the first Sickle Cell Disease Ontology workshop.

The workshop concluded with group presentations outlining the layout of the respective SCDO classes, and discussions regarding the vision of the project.