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DDIEM: drug database for inborn errors of metabolism

last modified Jun 24, 2020 03:15 PM
A new paper published in the rare disease Orphanet Journal by the Schofield group announces the release of a new database for metabolic diseases

A new paper published in the rare disease Orphanet Journal by the Schofield group, in collaboration with colleagues at KAUST  in Saudi Arabia,  announces the release of a database tracking treatments, phenotypes and genetics of diseases across the whole domain of inherited disorders in metabolism http://ddiem.phenomebrowser.net/

The reuse and repurposing of existing drugs is an important strategy in finding new therapies for rare and orphan diseases. While rare diseases are defined as affecting less than 200, 000 individuals worldwide, when they are all added up to gather they form a  significant fraction of the total morbidity and mortality in human populations and in general treatments are lacking for most. Over 1000 Inherited disorders of metabolism have been identified. Metabolic diseases are in principle the most tractable to treatment with small molecule therapy but even now the majority have no treatment that can significantly mitigate or cure them. The database was created by using text mining and manual curation of all the available papers in PubMed and related sources and then the data structured according to therapeutic mechanism, the abnormal phenotypes addressed, and characteristics of the associated genes and variants, integrating the data into the global semantic network of databases and resources, such as OMIM, Uniprot, Drugbank etc..  The data  will be of use to academic investigators, Pharma  and Biotech alike in developing therapeutic strategies for this challenging group of diseases.

Reference

Reference: Abdelhakim, M., McMurray, E., Syed, A.R. et al. DDIEM: drug database for inborn errors of metabolism. Orphanet J Rare Dis 15, 146 (2020). https://doi.org/10.1186/s13023-020-01428-2