One of the Solve-RD tasks in WP3 is to create a “Treatabolome” – a database of evidence for treatments for rare disorders linked to the precise genetic defect. Many rare diseases do have treatments available, but frequently there is a substantial delay before patients affected by the disease receive the right treatment. By making this information more readily accessible to clinicians at the time of diagnosis, the Treatabolome initiative aims to reduce this treatment delay.
See this Treatabolome leaflet to get additional information.
A special issue dedicated to the “Treatabolome” has been published in the Journal of Neuromuscular Diseases. All articles can be found here.
Treatabolome workshop at ESHG2020
Solve-RD held a Treatabolome workshop at ESHG 2020 with the aim to show interested clinicians and researchers how to participate in this initiative and create a Treatabolome for their own diseases of interest. We are delighted that we are now able to make the presentations available on the Solve-RD website and we encourage anyone who would like to participate to contact Antonio Atalaia from the Institut de Myologie in Paris, France. Systematic reviews of treatments for neuromuscular diseases may be submitted for a special issue of the Journal of Neuromuscular Diseases, but the concept can be used for any rare disease where treatments are available.
Please view the presentations below and get in touch if you’re interested!