Show simple item record

dc.contributor.authorAbdelhakim, Marwa
dc.contributor.authorMcMurray, Eunice
dc.contributor.authorSyed, Ali Raza
dc.contributor.authorKafkas, Senay
dc.contributor.authorKamau, Allan
dc.contributor.authorSchofield, Paul N
dc.contributor.authorHoehndorf, Robert
dc.date.accessioned2020-01-14T12:36:00Z
dc.date.available2020-01-14T12:36:00Z
dc.date.issued2020-01-10
dc.identifier.citationAbdelhakim, M., McMurray, E., Syed, A. R., Kafkas, S., Kamau, A. A., Schofield, P. N., & Hoehndorf, R. (2020). DDIEM: Drug Database for Inborn Errors of Metabolism. doi:10.1101/2020.01.08.897223
dc.identifier.doi10.1101/2020.01.08.897223
dc.identifier.urihttp://hdl.handle.net/10754/661031
dc.description.abstractBackground: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources. Results: We gathered data on therapeutic strategies for 299 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology. Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.
dc.description.sponsorshipThe authors acknowledge the support and generous assistance of Prof. Wyeth W. Wasserman, Prof. Nenad Blau and Tamar Av-Shalom in facilitating linkage between DDIEM and IEMbase. We thank Prof Michel Dumontier for advise on the curation process, data representation, and implementation of FAIR principles.
dc.publisherCold Spring Harbor Laboratory
dc.relation.urlhttp://biorxiv.org/lookup/doi/10.1101/2020.01.08.897223
dc.relation.urlhttps://www.biorxiv.org/content/biorxiv/early/2020/01/09/2020.01.08.897223.full.pdf
dc.rightsArchived with thanks to Cold Spring Harbor Laboratory
dc.rights.uriIt is made available under a CC-BY 4.0 International license.
dc.titleDDIEM: Drug Database for Inborn Errors of Metabolism
dc.typePreprint
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputer Science Program
dc.eprint.versionPre-print
dc.contributor.institutionDepartment of Physiology, Development & Neuroscience, University of Cambridge, Downing Street, CB2 3EG Cambridge, United Kingdom.
kaust.personAbdelhakim, Marwa
kaust.personAbdelhakim, Marwa
kaust.personSyed, Ali Raza
kaust.personSyed, Ali Raza
kaust.personKafkas, Senay
kaust.personKafkas, Senay
kaust.personKamau, Allan
kaust.personHoehndorf, Robert
kaust.personHoehndorf, Robert
refterms.dateFOA2020-01-14T12:36:36Z


Files in this item

Thumbnail
Name:
Preprintfile1.pdf
Size:
680.9Kb
Format:
PDF
Description:
Pre-print

This item appears in the following Collection(s)

Show simple item record