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Topic: Mitochondrial Rare Disorders

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 30 Jun 2023

Guest Editor(s)

  • Prof. Veronique Paquis-Flucklinger
    Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France.

    Website | E-mail

  • Dr. Jean-François Briand
    AFM-Téléthon, Evry, France.

    Website | E-mail

  • Prof. Vincent Procaccio
    Department of Genetics, Angers Hospital, Angers, France; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.

    Website | E-mail

Special Issue Introduction

In recent years, mitochondria have become a key player in many areas of modern medicine, ranging from rare diseases to neurodegenerative disorders, diabetes, cancer and ageing. Mitochondrial research has been developed for more than 30 years, but until now, the development of mitochondrial medicine has been greatly impaired by the lack of efficient therapies targeting mitochondria. The main obstacles are largely known, the first being the large clinical and genetic heterogeneities caused by the dual genomes. Thanks to the development of new sequencing technologies, the field has nevertheless advanced in the identification of underlying genetic causes for several hundreds of rare disorders caused by a direct effect on mitochondrial structure and functions, not counting other common diseases known to be associated with secondary mitochondrial dysfunction.
The path is now opened for the development of therapies faced with other challenges. Developing new therapies and clinical trials will necessitate an increasing amount of funding. A part of it will be provided by public institutions, and another part will continue to be granted by patient organizations and foundations, which were already key funders of basic research projects. Additionally, the role of biotechnology and pharmaceutical companies will be crucial in allowing promising therapies to be accessible to patients.
In this growing field, it was important to lay a foundation for the development perspectives. In this respect, the MitoNice international congress was organized by AFM-Telethon, the French patient advocacy organization for rare diseases, in September 2022 in the French city of Nice. Most of the experts in mitochondrial medicine presented their work and showed that its clinical applications are increasing, international collaborations are needed for clinical trials, and basic research can bring new knowledge to sustain the increasing development of mitochondrial medicine.
This Special Issue of Rare Disease and Orphan Drugs Journal will highlight the state of the art, future directions and perspectives of Mitochondrial Medicine, an exciting and rapidly evolving field.

Submission Deadline

30 Jun 2023

Submission Information

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

Published Articles

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