The Treatabolome is a new database under development within the European Project Solve-RD addressing unsolved Rare Diseases ( 

This database collects datasets related to gene and variant-specific treatments for rare diseases and makes them available through a free-access web platform. 

Although such targeted treatments are currently only available to a minority of rare disease (RD)patients, recent developments point towards a steep increase in the coming years, as suggested by the development of multiple gene therapies and the steady increase in the number of orphan drug applications. One of the initial aims of the International Rare Diseases Research Consortium - IRDiRC(, founded in 2011, was to develop 200 new therapies for rare diseases by the year 2020, an objective reached ahead of schedule in 2016. They now propose 1000 new treatments by 2027. The need to increase the visibility of these treatments is the rationale of the Treatabolome database.

The collected datasets will be freely available for API-mediated interoperability with diagnostic-support tools that may exhibit specific-treatment information related to gene and variants found for each clinical case analyzed. 

The objective is that after a patient receives a genetic diagnosis, there is no delay in identifying and proposing specific treatment for that patient, avoiding delays in treatment delivery to patients.

The initial Treatabolome datasets are being collected through Systematic Literature Reviews of all publications appraised by GRADE ( or OCEBML ( to establish their evidence-level. In addition, the whole methodology of the Treatabolome is freely available on an "Orphanet Journal of Rare Diseases" paper (

The Treatabolome database (demo temporarily available on currently incorporates datasets for Congenital Myasthenic Syndromes, Laminopathies, Channelopathies, Hereditary Neuropathies, Genetic forms of Parkinson and Metabolic Myopathies. In the pipeline, we await a Leigh's Disease Systematic Literature Review and another about Early-onset Ataxias. In addition, we have a manifestation of interest in developing a review about Genetic Epilepsies Treatments within a longer timeline.

We would like to invite all the groups interested in developing a Treatabolome dataset to follow the methodology of the paper as mentioned earlier and to contacts us for support through the email or

Published on 11 June 2021.


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