Treatabolome Project Designed to Shorten Diagnosis-to-Treatment Time for Patients with Rare Diseases

The NMD4C would like to share the publication of a special issue of the Journal of Neuromuscular Diseases dedicated to the Treatabolome, a new online database for rare disease and gene-specific treatment information. The special issue includes six systematic reviews contributed by experts on rare neurological disorders.

You can access the special issue of the Journal of Neuromuscular Disease here.

The Treatabolome project is a research initiative to develop a freely available, interoperable online platform dedicated to disseminating rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise. Developed under the Solve-RD European Research Project, it is intended to reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information. This initiative is highly relevant to neuromuscular disorders as they are rare diseases by definition. In this special issue of the Journal of Neuromuscular Diseases, experts contribute Treatabolome-feeding systematic literature reviews on rare neurological and neuromuscular disorders.

Read more about the Treatabolome project here.

JND treatabolome

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06 - 2026 Basic Research Summer School - EN

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