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Molecular and Cellular Characterization of Autism and Language Neural Stem Cells

To begin identifying cellular processes and molecular pathways which may be disrupted in autism, the DiCicco-Bloom and Millonig labs have generated induced pluripotent stem cells (iPSCs) from families with idiopathic autism. They have demonstrated profound autism-specific developmental phenotypes, including deficits in neuronal process outgrowth and cell migration, as well as molecular signaling. They plan to investigate whether these developmental and cellular signaling defects are commonly observed in idiopathic autism and another related neurodevelopmental disorder, by performing studies at the cellular, molecular, and functional levels.

In addition to creating iPSCs for idiopathic autism, the DiCicco-Bloom and Millonig team are employing several other innovative strategies. One, their iPSC dataset is generated from families with two language disorders: autism and Specific Language Impairment or SLI. They are studying families enriched for genetic loci that affect language, and will investigate how language defects are manifested at the molecular and neurobiological levels, across two different diagnostic categories. Two, to potentially identify biomarkers of neurobiological phenotypes they will employ recently developed, state of the art quantitative methods to measure peripheral and central sensory-motor function in autism and SLI. Three, they have developed assays for the rapid determination of developmental phenotypes over several days, and are leveraging new “omic” technologies to identify the downstream molecular pathways responsible for the autism phenotypes.

Upon the completion of their studies, the DiCicco-Bloom and Millonig team will have a much better understanding of the underlying neurobiological and molecular defects that contribute to autism and language disorders. In turn, they may be able to identify new molecular pathways to target to alter disease progression or reduce disability.