Genetic and functional study of CNTNAP2, a susceptibility gene for Autism Spectrum Disorder (ASD)
Dates:January 2, 2018 - June 29, 2018
Application deadline:June 29, 2018
~ Jan-March 2018
~ April-June 2018
CNTNAP2 has been proposed to be a major susceptibility gene for ASD. However, a large number of CNTNAP2 variations identified in patients have also been identified in unaffected parents as well as in unrelated individuals, questioning their clinical significance on the hand, and the contribution of the genetic background on the other hand. We attempt to answer these questions, performing in parallel neurodevelopmental studies in mouse models, and phenotypic and genetic characterization of neurons derived from induced pluripotent stem cells (iPSCs) from selected patients and parents. The ENP student may contribute either to mouse studies (Jan-March and April-June rotations) or to iPSCs studies (preferentially April-June rotation).
Institut du Fer à Moulin - 17, rue du Fer à Moulin 75005 Paris - +33 1 45 87 61 44 - email@example.com