University Côte d'azur

UE Winter school - conferences (SV)

ECUE's code : SMUSVP08

This course give 3.0 ECTS.
EUR LIFE
Biochimie et biologie moléculaire , Neurosciences , Biologie cellulaire , Physiologie
Campus Valrose , Campus Pasteur
Master 1 , Master 2
Semestre impair
Anglais

PRESENTATION

Winter School in Health Sciences change every year.

This 2024 will count 2 winterschools.

One about Adipocible and another one about  « Mitochondria in health, disease and aging »

  1. Mitochondria in health, disease and aging 

The morning sessions will educate the participants on different aspects of Mitochondria in health, disease and aging. They will be offered to local participants and as blended learning to free and international participants.  It will consist in thematic modules with didactic presentations from national and international researchers.

In the afternoon, the workshops are opened exclusively to DU students.

2. Adipocible

Program coming soon

Course's manager(s)

Veronique Paquis

In class

  • 15h of lectures
  • 15h of Séminaires

PREREQUISITES

No prerequisite

OBJECTIVES

By the end of this course, I should be able to...
  • Address the issues of genetic counseling and methods of ante-natal diagnosis of these diseases
  • Understand the value of new approaches (high-throughput sequencing, functional studies, etc.) for optimizing the diagnosis of these diseases
  • Diagnose and manage a patient (child or adult) with suspected mitochondrial disease
  • Integrate new mechanisms recently described as being at the origin of these pathologies, with the aim of developing therapeutic strategies.

CONTENT

  • 9:30-10:30am :Program in progress

    10:30-11:30am: Program in progress

    11:30-13:30pm: Lunch

    13:30-15:30pm: Caractéristiques cliniques des maladies mitochondriales de l’adulte et de l’enfant, Annabelle Chaussenot, Nice

    15:30-17:30pm: Apport de l’imagerie cérébrale pour le diagnostic des maladies mitochondriales, Nathalie Boddaert, Hôpital Necker, Paris

  • 9:30-10:30am :Program in progress

    10:30-11:30am: Program in progress

    11:30-13:30pm: Lunch

    13:30-14:45pm: Explorations biochimiques des maladies mitochondriales : spectrophotométrie, oxymétrie, BN-PAGE..., Konstantina Fragaki, Nice

    14:45-16:00pm: Explorations moléculaires des maladies mitochondriales : quels prélèvements, quelles techniques (NGS ADNmt, panel gènes nucléaires…) ? Sylvie Bannwarth, Nice

    16:00-17:30 pm: Etudes pangénomiques : comment prescrire et interpréter une analyse moléculaire ? Cécile Rouzier, Samira Saadi, Nice

  • 9:30-10:30am :Program in progress

    10:30-11:30am: Program in progress

    11:30-13:30pm: Lunch

    13:30-15:30pm: Encéphalomyopathies de l’adulte : CPEO, intolérance à l’effort, neuropathies, ataxies, maladies neurodégénératives avec instabilité de l’ADNmt…

    Intérêt de la biopsie musculaire et prise en charge, Annabelle Chaussenot, Sabrina Sacconi, Nice

    15:30-17:30pm: Encéphalomyopathies de l’enfant : acidose lactique congénitale, syndrome de Leigh, syndrome de Pearson, syndrome MELAS….

    Intérêt des prélèvements musculaires, hépatiques… et prise en charge, Brigitte Chabrol, Marseille

  • 9:30-10:30am :Program in progress

    10:30-11:30am: Program in progress

    11:30-13:30pm: Lunch

    13:30-14:45pm: Autres tableaux cliniques : diabètes mitochondriaux, atteintes digestives, cardiaques, rénales… Cécile Rouzier, Nice

    14:30-15:30pm: Conseil génétique, DPN, DPI, Cécile Rouzier, Nice

    15:30-16:30 pm: Perspectives thérapeutiques, Annabelle Chaussenot, Nice

    16:30-18:00 pm: Etudes de cas cliniques 

  • 9:30-10:30am :Program in progress

    10:30-11:30am: Program in progress

    11:30-13:30pm: Lunch

    13:30-16:00pm: Etudes de cas cliniques 

    13:30-16:00pm: Evaluation pour les étudiants de Master inscrits à l'UE WS

Access to complete Syllabus (Authentification required)
Important
This syllabus has no contractual value. Its content is subject to change throughout this year: be aware to the last updates