Affiliate Team Human Neurogenetics (MMG)

Located at the heart of the third largest European university hospital center, Marseille Medical Genetics (MMG) lab boasts a triple mission: to decipher the mechanisms involved in genetic diseases, to open new diagnostic and therapeutic pathways and to improve the quality of life of patients affected by these rare diseases.
From the genetics of rare diseases to developmental biology, from epigenetics to genome dynamics and from bioinformatics to systems biology, the MMG explores all facets of the discipline through a translational approach that focuses on the patient.

Discover the work of the MMG genomics platform in this 360° video (don't forget to enable the English subtitles).

Human Neurogenetics

Description

Our group studies rare diseases affecting the children’s brain and leading to intellectual deficiency. We combine approaches in the fields of clinical genetics, pediatric neurology, molecular genetics, neurophysiology, molecular biology, animal behavior analysis and therapeutic development. The two major research programs of our group are Rett syndrome (RTT) and early onset epileptic encephalopathies (EOEE).

We have three major objectives :

  1. to increase the knowledge in the field of rare genetic diseases affecting the children’s brain,
  2. to improve diagnosis and prognosis for these diseases,
  3. to develop new therapeutic strategies.

Team leader

Laurent Villard Total : 4 HDRs.

Techniques 

  • Biologie moléculaire (PCR...)
  • Biochimie (Western blot...)
  • Culture cellulaire
  • Immunomarquages, histologie, cytométrie en flux
  • Microscopie (à fluorescence, confocale, électronique...)
  • Comportement animal
  • Analyse de données médicales
  • Bioinformatique
  • Autre : Thérapie génique, recherche clinique

Research axes

Recherche translationnelle dans les maladies rares d'origine génétique du système nerveux central de l'enfant.

Keywords

Maladies rares, maladies génétiques, modèles animaux, séquençage à haut débit, omique, thérapie génique, virus adéno-associés, épilepsies néonatales, syndrome de Rett.

Thematics
  • Animal Cognition And Behavior
  • Disorders Of The Nervous System
  • Novel Methods And Technology Development
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