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However, in some cases, such as vitamin, cofactor or enzyme deficiencies, channelopathies and disorders of the neuromuscular junction, a confirmed genetic diagnosis provides guidance on treatment, with drugs available that may significantly alter the disease course, improve functional ability and extend life expectancy. Nevertheless, many treatable patients remain undiagnosed or do not receive treatment even after genetic diagnosis. The growth of computer-aided genetic analysis systems that enable clinicians to diagnose their undiagnosed patients has not yet been matched by genetics-based decision-support systems for treatment guidance. Generating a \u2018treatabolome\u2019 of treatable variants and the evidence for the treatment has the potential to increase treatment rates for treatable conditions. Here, we use the congenital myasthenic syndromes (CMS), a group of clinically and genetically heterogeneous but frequently treatable neuromuscular conditions, to illustrate the steps in the creation of a treatabolome for rare inherited diseases. We perform a systematic review of the evidence for pharmacological treatment of each CMS type, gathering evidence from 207 studies of over 1000 patients and stratifying by genetic defect, as treatment varies depending on the underlying cause. We assess the strength and quality of the evidence and create a dataset that provides the foundation for a computer-aided system to enable clinicians to gain easier access to information about treatable variants and the evidence they need to consider.<\/jats:p>","DOI":"10.1042\/etls20180100","type":"journal-article","created":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T08:49:10Z","timestamp":1548665350000},"page":"19-37","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome"],"prefix":"10.1042","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6889-0121","authenticated-orcid":false,"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, F-75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Missier","sequence":"additional","affiliation":[{"name":"School of Computing, Newcastle University, Urban Sciences Building, Firebrick Avenue, Newcastle upon Tyne NE4 5TG, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine, Freiburg, Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2019,1,28]]},"reference":[{"key":"2021111608042829900_ETLS-2018-0100CC1","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/cts.12501","article-title":"Progress in rare diseases research 2010\u20132016: an IRDiRC perspective","volume":"11","year":"2018","journal-title":"Clin. 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