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

Nicola Mulder, Victoria Nembaware, Adekunle Adekile, Kofi A. Anie, Baba Inusa, Biobele Brown, Andrew Campbell, Furahini Chinenere, Catherine Chunda-Liyoka, Vimal K. Derebail, Amy Geard, Kais Ghedira, Carol M. Hamilton, Neil A. Hanchard, Melissa Haendel, Wayne Huggins, Muntaser Ibrahim, Simon Jupp, Karen Kengne Kamga, Jennifer Knight-MaddenPhilomène Lopez-Sall, Mamana Mbiyavanga, Deogratias Munube, Damian Nirenberg, Obiageli Nnodu, Solomon Fiifi Ofori-Acquah, Kwaku Ohene-Frempong, Kenneth Babu Opap, Sumir Panji, Miriam Park, Gift Pule, Charmaine Royal, Raphael Sangeda, Bamidele Tayo, Marsha Treadwell, Léon Tshilolo, Ambroise Wonkam

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts. Ensuring data across studies is directly comparable through standardization is a necessary step towards realizing this goal. Such a standardization requires the development and implementation of a disease-specific ontology for SCD that is applicable globally. Ontology development is best achieved by bringing together experts in the domain to contribute their knowledge. The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.

Original languageEnglish (US)
Pages (from-to)23-29
Number of pages7
JournalApplied and Translational Genomics
StatePublished - Mar 1 2016

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Pharmaceutical Science


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