Jess Cardin and Michael J. Higley will establish a functional screen (using a CRISPR/Cas9-induced gene disruption system and multiscale in vivo calcium imaging in awake mice) for the assessment of common cellular- and circuit-level cortical dysregulation phenotypes associated with mutations in ASD risk genes.
ASD is believed to modify the balance of excitation and inhibition in brain circuits and is frequently accompanied by seizures, but precisely how and why this occurs is poorly understood. In this project, Sacha Nelson and colleagues plan to use an in vitro slice culture platform in combination with calcium imaging techniques to record activity from brain regions important for sensation and memory in four established genetic mouse models of ASD. By studying changes in neuronal and epileptiform activity over development, the progression of brain pathology and the mechanisms that normally compensate for it will be better understood.
Online measures have the potential to provide greater sensitivity to change in longitudinal studies and clinical trials. In the current study, Thomas Frazier and colleagues plan to develop and validate an online evaluation tool that includes: (1) a survey completed by caregivers to better understand behavior and functioning and (2) patient-completed measures that use a webcam to collect gaze and facial expression responses to evaluate thinking skills. If successful, the measures developed could greatly enhance research in autism and related neurodevelopmental genetic syndromes and might one day enhance clinical practice.
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