Abstract
Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive disease management and collaborative research on this disease are compounded by the complex molecular and clinical phenotypes of SCD, environmental and psychosocial factors, limited therapeutic options and ambiguous terminology. This ambiguous terminology has hampered the integration and interoperability of existing SCD knowledge, and SCD research translation. The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of experts in both SCD and ontology design. SCDO is the first and most comprehensive standardized human- and machine-readable resource that unambiguously represents terminology and concepts about SCD for researchers, patients and clinicians. It is built around the central concept ‘hemoglobinopathy’, allowing inclusion of non-SCD haemoglobinopathies, such as thalassaemias, which may interfere with or influence SCD phenotypic manifestations. This collaboratively developed ontology constitutes a comprehensive knowledge management system and standardized terminology of various SCD-related factors. The SCDO will promote interoperability of different research datasets, facilitate seamless data sharing and collaborations, including meta-analyses within the SCD community, and support the development and curation of data-basing and clinical informatics in SCD.
Highlights
Haemoglobinopathies in general are the most common monogenic diseases of human, with sickle cell disease (SCD) the most common recessive condition [1], having variable incidence and prevalence across countries [2]
This has enabled the incorporation of other haemoglobinopathies, which are related to SCD, to be included into the SCD Ontology (SCDO)
The SCDO was created via a collaborative and iterative process, and this first SCDO release provides a comprehensive description of clinically relevant aspects of SCD, standardizing common SCD vocabulary
Summary
Haemoglobinopathies in general are the most common monogenic diseases of human, with sickle cell disease (SCD) the most common recessive condition [1], having variable incidence and prevalence across countries [2]. Because of the protective effect of the sickle cell mutation against malaria, SCD has the highest incidence and prevalence in tropical regions, in Sub-Saharan African (SSA) countries, where more than 70% of SCD patients live [4], affecting ∼300 000 newborn babies every year [5]. While it was previously thought that the SCD mutation arose independently in different regions, recent evidence has suggested a single origin of the sickle cell allele over 7000 years ago [8]. SCD is a chronic disease of variable phenotypes, associated with increased morbidity and mortality, and with limited effective drugs to address the clinical manifestations [10]; this is true in the developing world, posing a substantial burden to the healthcare system of affected countries [11].
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
