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Topic: Gene Therapy in Rare Diseases

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 30 Jun 2023

Guest Editor(s)

  • Prof. Olivier Blin
    Service de pharmacologie clinique et pharmacovigilance, Aix-Marseille University, AP-HM, Orphandev-FCRIN, INSERM, Marseille, France.

    Website | E-mail

Special Issue Introduction

Most rare diseases (almost 80%) are caused by a defect in a single gene. Gene therapy for rare diseases represents an important and promising subject for potential treatments of rare diseases, but it faces various challenges.

This special issue will help to understand the landscape, current advances and remaining challenges for the development of gene therapy in rare diseases.

Gene Therapy in rare diseases: what are we talking about?
Authors (tbc): Olivier Negre (BluebirdBio, SFTCG, G&CTI) and other G&CTI members

Overview of available and upcoming Gene Therapies in rare diseases
Authors (tbc):Olivier Blin (APHM), Tristan Gicquel (OrphanDev), Vincent Montero (APHM), Sylvain Forget (G&CTI)

Gene therapy in rare diseases: challenges for development, pre-clinical testing and clinical trials
Authors (tbc): Juan Bueren (CIEMAT, Madrid), Peter Marinkovich (Stanford University), Stanislas Lyonnet (Imagine, Paris), Paula Walker (Roche/Genentech, London)

Gene therapy manufacturing – current state and future developments
Authors (tbc): Brian Mullan (Yposkesi), Emmanuel Dequié (French ministry of research), Stephen Ward (Catapult), Franck Mouthon (France Biotech), Philippe Moyen (PTC Therapeutics)

Accessibility of gene therapies in rare disease: How to ensure equitable access for all patients? (HTA, disparities between countries)
Authors (tbc): Patrick Celi (EMA), François Houÿez (Eurordis)

Do we need a new economic model for TG in rare diseases?
Authors (tbc): Isabelle Durand-Zaleski (Paris University), Pierre-Olivier Boyer (PTC Therapeutics), J.M. Graf von der Schulenburg (Center for Health Economics Research Hannover), Jie Shen (CSL Vifor, Basel), Wolfgang Greiner (Bielefeld University)

Pharmaco-vigilance in Gene Therapy. Example of Spinraza®
Authors (tbc): Laurent Servais (MDUK Oxford Neuromuscular Centre), Shahram Attarian (APHM, Filnemus), Teresinha Evangelista (Euro-NMD) + pharmacologist, + XXX (Biogen)

Legal regulation and ethical issues surrounding Gene Therapy: are society and science advancing at the same pace?
Authors (tbc): Annagrazia Altavilla (TEDDY European Network of Excellence for Paediatric Research), Emmanuel Hirsch (Paris-Saclay University)

Prediction of long-term benefits of Gene Therapy
Authors (tbc): Thomas Edwards (Oxford University), Margareth Ozelo (Hemocentro Unicamp, Sao Paulo), Perry Shieh (UCLA, Los Angeles)

Submission Deadline

30 Jun 2023

Submission Information

For Author Instructions, please refer to
For Online Submission, please login at
Submission Deadline: 30 Jun 2023
Contacts: Cyndi Guan, Assistant Editor,

Published Articles

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