Lecture 2 – Introduction to autism research
Ilan Dinstein
What is the cause of autism?
Identify meaningful mutation
Control > ASDSubstitution
Deletion
Insertion
Determine the function of the gene
What is the function of the protein that the gene encodes?
Is it involved in neural transmission?
Neural development?
Synaptic development?
Bourgeron 2009
Create a genetically modified animal model
Control > ASD
Compare animals with extremely similar genetics except for a specific modification.
Perform behavioral experiments
Control > ASD
Testing social behavior in mice
In vitro electrophysiology
Control > ASD
In vivo electrophysiology
Control > ASD
Electrical properties of cells & networks
Control > ASD
Cellular morphology and connectivity
Control > ASD
What about humans?
Human genetics – SFARI, Autism Speaks
Neuroimaging – MRI, fMRI, DTI
Electrophysiology – EEG
Post mortem
Magnetic resonance imaging (MRI)
Anatomy - Separating tissues
1T 2T
Anatomy – Cortical thickness
Anatomy – Cortical folding
Anatomy – white matter
TractographyFiber volumeFiber length
Electroencephalogram - EEG
Control > ASD
EEG and epilepsy
Spence, Pediatrics Res 2009
Control > ASD
Epileptiform activity
Epileptic seizure
Post mortem studies
Neural numbers and organization
Control > ASD