D.U Mitochondrial Diseases : Diagnosis, Management and New Concepts

  • Science and Technology
  • Medicine and Health
D.U Mitochondrial Diseases : Diagnosis, Management and New Concepts

Résumé

This degree combines research and training thanks to the intervention of international experts in the field of mitochondrial diseases Read more

Objectifs

Initial training / Executive Education Program / Accessible for resumption of studies /
Diplôme d'université
1 week
EUR Sciences du Vivant et de la Santé / EUR Sciences du Vivant et de la Santé
English / French

Details

INFORMATION

The training will take place from Monday 13 to Friday 17 December 2021 in the Galet amphitheater at the Pasteur 2 Hospital in Nice (download the access map).

REGISTRATION

Application deadline: December 1, 2021
Applications must be made via the eCandidat platform

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GRADUATE SCHOOL

Introduction

This training is given in the form of a "Winter School", within the framework of the Graduate School of Life and Health Sciences of Université Côte d'Azur. It combines research and training with the intervention of experts in the field of mitochondrial diseases. It aims to stimulate reflection and exchanges with national and international researchers who will present their work on mitochondrial functions and dysfunctions.

The "research" part will take place in the morning, in the form of conferences. The afternoons will be devoted to the "training" part which will be provided by national experts involved in reference centers on mitochondrial diseases. The objective is to study specific cases and to learn more about these diseases and the ways of caring for patients.

The training should enable participants to :

  • Diagnose and manage a patient (child or adult) suffering from mitochondrial disease
  • Understand the interest of new approaches (high throughput sequencing, functional studies...) to optimize the diagnosis of these diseases
  • To address the issues of genetic counseling and methods of ante-natal diagnosis of these diseases
  • To understand the new mechanisms recently described as being at the origin of these diseases

Campus Pasteur

Partnership

Admission

Prerequisite

Graduate level

This diploma is intended for doctors, scientists, paramedics...

Conditions of applications

Applications must be made via the eCandidat platform.

If you are having trouble registering, please refer to the eCandidat user manual.

Program

The training will take place from December 13 to December 17, 2021 with :
  • In the morning, lectures in English by international experts in the form of general reviews on new concepts in terms of research
  • In the afternoon, lectures in French oriented towards medical practice and patient management
Programme
Journée 1 - 13 décembre 2021
  • 9:30-10:30 : Metabolic reprogramming of mitochondria by proteolysis in aging and disease, Thomas Langer, Cologne, Germany
  • 10:30-11:30 : Assessing mitochondrial morphology and its impact in health and disease, Tim Wai, Pasteur Institute, Paris
  • 11:30-13:30 : Lunch
  • 13:30-15:30 : Clinical features of mitochondrial diseases in adults and children, Annabelle Chaussenot, Nice
  • 15:30-17:30 : Contribution of brain imaging to the diagnosis of mitochondrial diseases, Nathalie Boddaert, Necker Hospital , Paris
Journée 2 - 14 décembre 2021
  • 9:30-10:30 : Where in the mitochondrial network does protein synthesis occur ?, Robert Lightowlers, Newcastle, UK
  • 10h:30-11:30 : Genome editing in mitochondria: past, present and future, Michal Minczuk, Cambridge, UK
  • 11:30-13:30 : Lunch
  • 13:30-14:45 : Biochemical investigations of mitochondrial diseases: spectrophotometry, oximetry, BN-PAGE., Konstantina Fragaki, Nice
  • 14:45-16 : Molecular investigations of mitochondrial diseases: which samples, which techniques (mtDNA NGS, nuclear gene panel...), Sylvie Bannwarth, Nice
  • 16-17:30 : Genome-wide studies: how to prescribe and interpret a molecular analysis, Cécile Rouzier, Samira Saadi, Nice
Journée 3 - 15 décembre 2021
  • 9:30-10:30 : New physiopathological and therapeutic considerations on a mitochondrial blinding disease, Guy Lenaers, Angers
  • 10:30-11:30 : Premature aging mechanisms & mitochondria, Anu Suomalainen, Helsinki, Finland
  • 11:30-13:30 : Lunch
  • 13:30-15:30 :
    • Adult encephalomyopathies: CPEO, exercise intolerance, neuropathies, ataxias, neurodegenerative diseases with mtDNA instability…
    • Interest of muscle biopsy and management, Annabelle Chaussenot, Sabrina Sacconi, Nice
  • 15:30-17:30 :
    • Encephalomyopathies of children: congenital lactic acidosis, Leigh syndrome, Pearson syndrome, MELAS syndrome….
    • IInterest of muscle and liver samples... and treatment, Brigitte Chabrol, Marseille
Journée 4 - 16 décembre 2021
  • 9:30-10:30 : Mitochondrial medicine in the omics era, Shamima Rahman, London, UK
  • 10:30-11:30 : Genetic diagnosis of mitochondrial diseases via RNA sequencing, Holger Prokisch, Munnich, Germany
  • 11:30-13:30 : Lunch
  • 13:30-15:30 : Other clinical pictures: mitochondrial diabetes, digestive, cardiac and renal disorders… Cécile Rouzier, Nice
  • 15:30-17:30 : Clinical case studies
Journée 5 - 17 décembre 2021
  • 9::30-10:30 : Mitochondrial dysfunction in motor neuron disease,Véronique Paquis-Flucklinger, Nice
  • 10:30-11:30 : Maintaining a healthy mitochondrial pool via the NAD+-mitophagy axis as a therapeutic strategy for Alzheimer’s disease, Evandro Fei Fang, Lørenskog, Norway
  • 11:30-13:30 : Lunch
  • 13:30-16:00 : Clinical case studies

  • Thomas Langer,
  • Timothy Wai,
  • Robert Lightowers,
  • Anu Suomalainen,
  • Guy Lenaers,
  • Michal Minczuk,
  • Shamima Rahman,
  • Hoger Prokisch,
  • Evandro Fei Fang,
  • Annabelle Chaussenot,
  • Nathalie Boddaert,
  • Konstantina Fragaki,
  • Sylvie Bannwarth,
  • Cécile Rouzier,
  • Samira Saadi,
  • Brigitte Chabrol,
  • Sabrina Sacconi,
  • Véronique Paquis-Flucklinger

What's next ?

Level of education obtained after completion

Graduate level

Submission

Fees: 700€ (400€ for students)