Lecture 2 – Introduction to autism research Ilan Dinstein
What is the cause of autism?
Dendrites Axon Cell body
Neural activity
Modularity
Developmental disorder Brain development movie
Nature versus nurture Genes or Environment?
Genetics Control > ASD
DNA sequencing Control > ASD
Identify meaningful mutation Control > ASD Substitution 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
Electrode location Control > ASD
Cellular morphology and connectivity Control > ASD
What about humans? Human genetics – SFARI, Autism Speaks Neuroimaging – MRI, fMRI, DTI Electrophysiology – EEG Post mortem
Human genetics
Magnetic resonance imaging (MRI)
Anatomy - Separating tissues 1T1T2T2T
Anatomy – Cortical thickness
Anatomy – Cortical folding
Anatomy – white matter Tractography Fiber volume Fiber length
Electroencephalogram - EEG Control > ASD
EEG and epilepsy Spence, Pediatrics Res 2009 Control > ASD Epileptiform activity Epileptic seizure
Post mortem studies Brain slices: Control > ASD
Post mortem studies Cellular morphology Control > ASD
Post mortem studies Neural numbers and organization Control > ASD