IEMbase mobile app version 1.0. Inborn errors of metabolism (IEMs) represent a large class of rare genetic disorders. For a considerable proportion of IEM, therapy is available, which dramatically improves patient outcomes. Accurate and timely diagnosis is therefore essential. However, the accuracy and timeliness of an IEM diagnosis is often difficult to achieve due to a staggering number of these rare genetic disorders, the heterogeneity of symptoms and phenotypes, as well as the extensive list of required tests and skills to properly interpret these in the context of the patient’s phenotype.
Combining comprehensive expert resources on IEMs and existing ontologies – hierarchies of concepts organized as a standardized vocabulary (e.g. Human Phenotype Ontology) – an extensive system that aims to provide both an online knowledgebase and a smart system (artificial intelligence) was created for curation and diagnosis support.
Many experts of MetabERN are part of the expert panel of this project. Recently, the IEMbase announced the creation of the IEMbase 1.0 mobile app, available for Android system from Google Play for free and the App Store. Visit the http://www.iembase.org/ to find out more information on how to use this tool. A video tutorial can be found on the homepage.
Information retrieved from http://www.iembase.org/
Disclaimer: News post targeted at clinicians. IEMbase is only a tool designed to help clinicians and scientists in establishing the best diagnosis and introducing the best possible treatment. Patients must consult with a qualified physician for diagnosis and treatment.
