Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies

Abstract Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is cr...

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Bibliographic Details
Main Authors: Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Delphine Dupin-Deguine, Dominique Fargeaud, Agnès Farrugia, Anna-Gaëlle Giguet-Valard, Damien Guijarro, Jocelyn Inamo, Julien Jeanneteau, Jean-Michaël Mazzella, Claire-Cécile Michon, Gilles Millat, Frédéric Mouquet, Silvia Oghina, Yann Pereon, Vianney Poinsignon, Julie Pompougnac, Julie Proukhnitzky, Elise Schaefer, Franck Sturtz, Mathilde Trosdorf, Anne Auguste, Giorgia Canali, Alexandre Combes, Benoît Funalot, Thibaud Damy
Format: Article
Language:English
Published: BMC 2024-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ATTR
Genetic testing
Rare disease
Multidisciplinary expert group
Experts’ consensus
Online Access:https://doi.org/10.1186/s13023-024-03370-z

Internet

https://doi.org/10.1186/s13023-024-03370-z

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