Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2017) 6 P200 | DOI: 10.1530/boneabs.6.P200

ICCBH2017 Poster Presentations (1) (209 abstracts)

The platform of expertise for rare diseases Paris-Sud: an innovative model for gathering reference centers and improving care for rare diseases

Alessia Usardi 1 , Charlotte Henry 1 , Christophe Habib 1 , Isabelle Fernandez 1 , Yahya Debza 1 , Martha Darce 1 , Radka Stoeva 1 , Philippe Labrune 2 & Agnès Linglart 1

1Bicêtre Hospital, Le Kremlin Bicetre, France; 2Antoine Béclère Hospital, Clamart, France.

Introduction: The platform of expertise for rare diseases Paris-Sud is an organization created at the end of 2014. It brings together 21 reference centers for rare diseases of the university hospitals Paris-Sud, 12 diagnostic and research laboratories, a biological resource center and several patient associations.

Methods: A multidisciplinary team (a communication officer, a bio-informatician, a geneticist, clinical research associates, an administrative manager and a project manager) helps and coordinates actions with the members of the platform.

Results: To improve the visibility, diagnosis and research studies of the reference centers of Paris-Sud several actions were undertaken by the platform team. The communication officer developed a unique website (, produced videos showing the main clinical and research activities of the Paris-Sud reference centers (playlist available at, as well as many other communication tools. The bio-informatician, in collaboration with the team working at the on-site NGS platform, developed data analysis workflows specific for a rare disease or a group of rare diseases, accelerating diagnosis and reducing analysis costs. The geneticist, in collaboration with the INSERM UMR 788, identified 3 new genes linked to rare diseases by performing whole-exome sequencing. Clinical research associates accompanied the reference centers for clinical research projects by developing patient databases and collaborating with a team developing a ‘French database for rare diseases’ to allow local patient databases to be included in the national registry. Finally, the project manager helped to prepare grant proposals such as European Reference Networks and the national certification of reference centers for rare diseases.

Conclusions: The project of the platform of expertise for rare diseases Paris-Sud demonstrates that multidisciplinary and improved interaction between reference centers for rare diseases, research centers and patient associations permit translational research on rare diseases to advance. We strongly believe that this model can be used and implemented in the future in different medical structures in France and abroad.

Disclosure: The authors declared no competing interests.

Volume 6

8th International Conference on Children's Bone Health


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