The objective the team is to investigate early phases of neurogenetic diseases and to identify mechanisms of clinical variability for future treatments. Inherited neurodegenerations share late adult onset, although the causative mutated genes are expressed since the first days of life. This raises the question of whether early events might set the stage for later disease and what are the modifiers of the expression of signs. We focus the team scope to the early phases of neurogenetic diseases. This will allow us to exploit the translational capacities of the team towards new treatments.

This team is headed by two complementary researchers that join forces:

Sandrine Humbert a basic scientist specialist of molecular and cellular mechanisms underlying Huntington disease, and Alexandra Durr clinical and genetic expert of these disorders.

We will use expertise in cell biology of mouse and human neurons, modelling of disease in vitro and mice, assembling cohorts of rare diseases and conducting clinical trials. Tools and resources are established over many years and are exceptional to enable us in resolving the mystery of silent phases before overt neurodegeneration.

Main techniques

Genetic and transcriptomatic analyses, analyses of molecular pathways involved in neuronal dysfunction using cellular and mouse models.

Address :
Hôpital Pitié-Salpêtrière 47 bd de l’Hôpital 75013 Paris

Team leader :
DURR Alexandra
Name of co-team leader :
HUMBERT Sandrine
Administrative Contact Name :


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Key words : #Huntington Disease# Spinocerebellar ataxias