P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools - Archive ouverte HAL Accéder directement au contenu
Communication Dans Un Congrès Année : 2023

P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools

R. Thompson
  • Fonction : Auteur
L. Matalonga
  • Fonction : Auteur
C. Hernandez-Ferrer
  • Fonction : Auteur
A. Corvo
  • Fonction : Auteur
L. Carmody
  • Fonction : Auteur
B. Zurek
  • Fonction : Auteur
R. Horvath
  • Fonction : Auteur
H. Graessner
  • Fonction : Auteur
O. Riess
  • Fonction : Auteur

Résumé

Rare diseases are individually rare but globally affect 3.5 to 5.9% of the population, i.e. 263-446 million people worldwide, according to the latest calculations. Recent estimates point to over 10000 rare diseases, of which 6172 disorders are listed in Orphanet, about 70% of which being genetic and around 70% having paediatric onset. Disease rarity translates into a delayed diagnosis, with 25% of patients having to wait for 5 to 30 years to have one. It is essential, at the time of diagnosis, to be able to relay information about potential gene and variant-specific therapies to patients. The Treatabolome (www.treatabolome.org) was conceived to enhance the visibility of existing treatments for non-specialists and avoid delays to treatment initiation. Currently, the Treatabolome contains datasets related to 77 genes, most of which associated to on a wide spectrum of neuromuscular disorders. Interactions with other Projects are ongoing, such as MAxO (https://github.com/monarch-initiative/MAxO) for improving the Medical Action Ontology and the French FILNEMUS network which reported the list of 63 actionable genes in myopathies following ClinGen criteria. The idea is to have the therapeutic information for each gene and variant-specific treatment in an online freely available database and make it interoperable with clinical decision and diagnosis support tools (e.g., RD-Connect´s GPAP https://rd-connect.eu/what-we-do/omics/gpap/), allowing that information to be provided simultaneously with the diagnosis.
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Dates et versions

hal-04280259 , version 1 (10-11-2023)

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Citer

A. Atalaia, R. Thompson, L. Matalonga, C. Hernandez-Ferrer, A. Corvo, et al.. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩. ⟨hal-04280259⟩
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