25 May 2021

The “Treatabolome”, a new concept emerging from a European Project addressing unsolved rare diseases (Solve-RD, www.solve-rd.eu), is meant to bring awareness for rare diseases treatments by building a platform that list gene and variant-specific treatments. This information will be made available for use by diagnostic and clinical decision tools.

The Journal of Neuromuscular Diseases issued a special number covering gene and variant-specific treatments for rare diseases, particularly rare neurological and neuromuscular disorders, thereby highlighting the important premise that a precise genetic diagnosis may result in equally precise therapeutic approaches. Although such targeted treatments are currently only available to a minority of 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. The datasets from these papers are to be uploaded to the Treatabolome databse and be shared.