A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Abstract Background Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of pa...

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Bibliographic Details
Main Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Format: Article
Language:English
Published: BMC 2020-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare diseases
Systematic literature reviews
Treatment knowledge-base
Online Access:http://link.springer.com/article/10.1186/s13023-020-01493-7

Internet

http://link.springer.com/article/10.1186/s13023-020-01493-7

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