Treatabolome, a global resource to find the existing treatments for Rare Diseases.

What is it about?

The Treatabolome is a concept around a global resource to find the existing treatments for Rare Diseases. The designation arises from other terms we use in Genetics. For example, the ensemble of all genes is called the genome. You are probably acquainted with news from the Whole Genome Project, which identified the entire nucleic acid sequence that codes how a human being is formed and functions. Rare diseases put challenges, usually with a significant delay from the start of the first symptoms until the patient gets a diagnosis. Most rare diseases still do not have specific management, but we hope to increase the number of treatments in years to come. That is the stated objective of an organisation called the International Rare Diseases Research Consortium (IRDiRC). After providing 200 new therapies for rare diseases in 5 years (2011 to 2016), they now propose 1000 new treatments by 2027. The increase in these treatments may pass unnoticed by doctors that do not deal daily with rare diseases, despite ordering tests to diagnose them. The most advertised diagnostic tool is called "Next Generation Sequencing", which identifies the building blocks of a patient's genome. Once, it was costly and difficult to access, but nowadays, non-specialised doctors have increasing access to it, despite the difficulty in interpreting the results. However, clinicians are assisted by informatic support tools that explain the significance of the mutations leading to the diagnosis. The Treatabolome database wants to contribute information directly to those tools and allow the diagnosing clinician to be alerted to existing treatments. The aim is to avoid any delay between having a diagnosis and starting a treatment whenever the latter is available. To assemble the database of treatments collected in the Treatabolome, scientists have reviewed the disease area of their interest to identify all existing therapies and have produced datasets according to pre-specified standards, namely the FAIR principles of data management. The latter implements data formating that renders it easily findable, accessible, easy to exchange (interoperable) and reuse across several research projects. The work concerning each rare disease or group of rare diseases was then reported in a particular type of scientific paper, a systematic literature review, that tries to assemble all current information according to a standard methodology shared between all researchers. This Journal of Neuromuscular Diseases issue gathers a group of such scientific papers

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