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Team “Basic to translational neurogenetics”


Physiopathology of neurological disorders Main domain : Cellular & molecular neurosciences Subdomain : Clinical & translational neurosciences Alexandra DURR & Giovanni STEVANIN’s team focus on two groups of neurogenetic diseases, spinocerebellar degenerations – SCD (spastic paraplegias and cerebellar ataxias) and frontotemporal lobar degenerations – FTLD. These rare conditions share clinical, genetic and functional characteristics, such as motor neuron dysfunction but are extremely heterogeneous both in molecular and clinical aspects.


Specific aims are :

  • To identify novel causative genes/molecular dysfunction and modifying factors in improving the genomic analysis of familial forms
  • To investigate common pathological mechanisms such as dysfunction of lysosomes and autophagy
  • To uncover new pathological pathways using unbiased methods (RNASeq, lipidomics, metabolomics…)
  • To implement therapeutic strategies, including gene therapy, using biomarkers identified in longitudinal studies of patients and presymptomatic carriers.

Major publications

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Team members

  • Alexis BRICE

    MD, Professor of medical genetics, Sorbonne University-AP-HP

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  • Frederic DARIOS

    Principal Investigator, PhD, CR1, INSERM

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  • Khalid Hamid EL HACHIMI

    Principal Investigator, PhD, MCU, EPHE

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  • Isabelle LE BER

    Principal Investigator, MD, PhD, PH, AP-HP

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    Principal Investigator, PhD, MCU, EPHE

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