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Updated: Feb 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Health care delivery for patients with rare diseases
Élisabeth Monnet1,2, Franck Chauvin3,2
1Unité épidémiologiesanté publique, CIC Inserm 1431, CHRU de Besançon, Besançon, France.
Abstract:
Health care delivery for patients with rare diseases. Currently more than 7000 rare diseases have been identified, that should affect more than 3 million people in France. Reducing frequent delay in diagnosis and improving coordination of care are public health priorities addressed by the two French National Plans for Rare Diseases. Specialized care offer is made of 23 healthcare networks for rare diseases, 131 centres of expertise and 501 skilled satellite centres. Additional efforts are required in order to enhance patient information, to build an information strategy for professionals, to share best practices and to improve reimbursement of health expenditure.
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