Understanding diseases like autism and schizophrenia that affect development of the brain has been challenging due to both the complexity of the diseases and the difficulty of studying developmental processes in human tissues. In a study published in the July 16, 2015 issue of Cell, researchers have made steps toward overcoming these challenges by converting skin cells from autism patients into stem cells and growing them into tiny brains in a dish, revealing unexpected mechanisms of the disease. The Cell article is titled “FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders." Most autism research has taken the approach of combing through patient genomes for mutations that may underlie the disorder and then using animal or cell-based models to study the genes and their possible roles in brain development. Although this has yielded a handful of rare disease genes, the limitations of these models and the complexity of the disorder have frustrated researchers and left over 80% of autism cases with no clear genetic cause. The new study now turns the traditional approach on its head. "Instead of starting from genetics, we've started with the biology of the disorder itself to try to get a window into the genome," says senior author Dr. Flora Vaccarino, the Harris Professor of Child Psychiatry and Professor or Neurobiology at the Yale School of Medicine. The clinical characteristics of autism are complex and wide-ranging, making the prospect of finding common underlying factors slim. To stack the deck in their favor, the researchers focused on the approximately one-fifth of autism patients that share a distinctive feature correlated with disease severity--an enlarged brain.
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