Open AccessThe Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications
Author(s) -
Victoria Nembaware,
Gaston Kuzamunu Mazandu,
Jade Hotchkiss,
Jean-Michel Safari Serufuri,
Jill Kent,
André Pascal Kengne,
Kofi A. Anie,
Nchangwi Syntia Munung,
Daima Bukini,
Valentina Josiane Ngo Bitoungui,
Deogratias Munube,
Uzima Chirwa,
Catherine ChundaLiyoka,
Agnes Jonathan,
Miriam V. FlorPark,
Kevin Esoh,
Mario Jonas,
Khuthala Mnika,
Chandré Oosterwyk,
Upendo Masamu,
Jack Morrice,
Annette Uwineza,
Arthemon Nguweneza,
Kambe Banda,
Isaac Nyanor,
David Nana Adjei,
Nathan Edward Siebu,
Malula Nkanyemka,
Patience Kuona,
Bamidele O. Tayo,
Andrew D. Campbell,
Assaf P. Oron,
Obiageli Nnodu,
Vivian Painstil,
Julie Makani,
Nicola Mulder,
Ambroise Wonkam
Publication year - 2020
Publication title -
omics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.811
H-Index - 58
eISSN - 1557-8100
pISSN - 1536-2310
DOI - 10.1089/omi.2020.0153
Subject(s) - ontology , disease , computer science , knowledge management , medicine , philosophy , epistemology , pathology
Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, with an increasing trend. The sickle cell disease ontology (SCDO) is the most comprehensive multidisciplinary SCD knowledge portal. The SCDO was collaboratively developed by the SCDO working group, which includes experts in SCD and data standards from across the globe. This expert review presents highlights and lessons learned from the fourth SCDO workshop that marked the beginning of applications toward planetary health impact, and with an eye to empower and cultivate multisite SCD collaborative research. The workshop was organized by the Sickle Africa Data Coordinating Center (SADaCC) and attended by 44 participants from 14 countries, with 2 participants connecting remotely. Notably, from the standpoint of democratizing and innovating scientific meeting design, an SCD patient advocate also presented at the workshop, giving a broader real-life perspective on patients' aspirations, needs, and challenges. A major component of the workshop was new approaches to harness SCDO to harmonize data elements used by different studies. This was facilitated by a web-based platform onto which participants uploaded data elements from previous or ongoing SCD-relevant research studies before the workshop, making multisite collaborative research studies based on existing SCD data possible, including multisite cohort, SCD global clinical trials, and SCD community engagement approaches. Trainees presented proposals for systematic literature reviews in key SCD research areas. This expert review emphasizes potential and prospects of SCDO-enabled data standards and harmonization to facilitate large-scale global SCD collaborative initiatives. As the fields of public and global health continue to broaden toward planetary health, the SCDO is well poised to play a prominent role to decipher SCD pathophysiology further, and co-design diagnostics and therapeutics innovation in the field.