Sébastien JacquemontAxe génétique

Our research is focussed on neuropsychiatric disorders of genetic origin. We integrate genetic, neuroimaging, biomarker and clinical data to investigate how specific loci or genes lead to clinical symptoms and impairments.

Our group studies disorders related to mutations in the FMR1 gene. In collaboration with other research groups, we have characterized the neuro-degenerative disorder associated with the FMR1 premutation (Fragile X-associated tremor/ataxia syndrome). This triplet repeat disorder affects adult carriers of premutation alleles who develop ataxia, intention tremor, cognitive decline, neuropathy, parkinsonism and autonomic dysfunction.

In collaboration with the industry and academic groups, we also led the development and implementation of a series of controlled trial assessing investigational targeted therapies in fragile X syndrome. These trials represent a paradigm shift and are among the first targeted therapeutic trials in neurodevelopmental disorders.

We are also actively studying genomic structural variants associated with autism and schizophrenia. In particular, we are investigating gene dosage effects of these genomic regions on cognitive and behavioural symptoms as well as neuroanatomy.

Awards and Distinctions

  • 2014, Canadian Research chair in genetics of neuro-developpemental disorders
  • 2014, Jeanne et Jean-Louis Levesque fund in genetics of neuropsychiatric disorders
  • 2010, Clinical Research Award, University of Lausanne Medical school FBM-CHUV
  • 2010, Leenaards Foundation award
  • 2004, Fragile X national foundation award for research on FXTAS, 9th International Fragile X Conference, Washington DC
  • 2003, Post Doctoral award for clinical research, American Society of Human Genetics, Los Angeles