چکیده (انگلیسی):

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 thesedisparate 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 diseasespecific
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 aimof 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.
© 2016 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/).