Strong-effect genes in neurodevelopmental disorders

May 13th, 2019
Versione stampabile

At 11.00
Venue: Polo Scientifico e tecnologico “Fabio Ferrari”, Via Sommarive, 5 – Povo – Trento - Room A208

  • Prof. James Gusella
    Massachusetts General Hospital
    Harvard Medical School

Neurodevelopmental disorders (NDDs), including particularly autism spectrum disorder (ASD), may be caused by haploinsufficiency due to heterozygous inactivating mutations in any of a large number of individual genes or by disruption of a genomic region in the recurrent genomic disorders. Both types of lesion can be modeled in induced pluripotent stem cells to define the consequences of the mutation for neuronal development and, in the latter, to define which gene(s) drives the abnormalities.  We have pursued a variety of studies to identify genes that cause NDDs and to create models to explore their consequences, with the ultimate goal of defining overlaps in the ultimate pathogenesis of seemingly very different genetic triggers.