Rare Diseases
An initiative called the Tretabolome project has been launched by Solve-RD. Solve-RD is a research project funded by the European Commission for five years (2018-2022) to solve large numbers of rare diseases and improve diagnostics of rare disease patients. The Tretabolome project is an ‘online platform to collect and provide treatment information geared to specific genes and gene variants (mutations) to any and all healthcare professionals, not just the specialists brought in as the light at the end of the diagnostic tunnel comes into view’.
The Tretabolome project aims to reduce the time between genetic diagnosis and start of treatment. There has been an improvement in the availability of genetic diagnosis and growing rare disease treatments, with a development in gene therapies and increase in number of orphan drug applications. The targeted treatments for rare disease patients are only availability to a minority but it is hoped that with recent treatment developments this will increase in time. The project plans to include more diseases in the future which could be of benefit of those with other rare diseases.