The Vaccarino Lab

Somatic mosaicism is the accumulation of mutations in DNA sequence or copy number in cellular genomes after fertilization (typically in the form of copy number variations, single nucleotide mutations, new retrotransposon insertions).

In our lab we produce iPSC from skin fibroblasts of ASD patients and control subjects and use them to study differences in human embryonic neuronal development between these two populations.

Our studies have shown that Fgf signaling regulates the surface expansion of the cerebral cortex and the hippocampus.

Using stereology, we showed a decrease in number of GABAergic and cholinergic interneurons in postmortem basal ganglia tissue from subjects with Tourette.