Development of a blood-based biomarker for autism

  • Awarded: 2014
  • Award Type: Pilot
  • Award #: 309212

Autism is a complex disorder of many biological causes that results in characteristic behavioral symptoms. However, recent advances in the genetics of autism point to a constellation of genetic causes that converge on a subset of intracellular signaling pathways, including RAS-MAPK and PI3K/AKT, that may all contribute to autism, even if mutations in these pathways on their own may not be sufficient to cause the disorder.

Elliott Sherr and his colleagues at the University of California, San Francisco are investigating the proteins in these and other signaling pathways to determine if the state of activation of these signaling proteins (often kinases and usually measured by the state of phosphorylation) are altered in a reproducible way in the white blood cells of individuals with autism.

The group initially showed that the state of kinase activation was correlated with that measured in white blood cells and in the cerebral cortex. This observation suggests that it may be possible to develop a panel of markers in the blood of individuals with autism that would predict whether a child has autism prior to the onset of behavioral signs.

Elliott Sherr and his team aim to test whether, in a replication cohort, the state of activation of these same proteins can reliably measure autism status in a group of children with autism and in matched controls. They also hope to investigate what other biological factors can influence this measurement.

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