Lectures and seminars Lunch seminar "Mechanisms of disease and of therapeutic interventions in preclinical and clinical autism research"

Title: Mechanisms of disease and of therapeutic interventions in preclinical and clinical autism research.

Here we address genetic, molecular and imaging approaches to investigate disease related biomarkers, and mechanisms of action of novel therapeutic strategies in autism and other neurodevelopmental disorders.

As an example of this type of effort, we confirmed for the first time in humans previous preclinical literature suggesting an inhibitory phenotype (altered GABA neurotransmission) in Neurofibromatosis Type 1 (NF1), one of the most common neurogenetic conditions. The demonstration in humans of a pre and postsynaptic GABA phenotype in NF1, comparable with our imaging findings in animals, paved the way for a testable therapeutic target. We found a genetic basis for graded changes in GABA levels, and were able to study in humans the GABA synapse in pre and post synaptic compartments, using molecular imaging. We completed full translation in pharmacological clinical trial, where we could show that cortical inhibition in NF1 can be modulated by lovastatin, as demonstrated by a randomized, triple‑blind, placebo‑controlled clinical trial.

We then address how these efforts were translated in autism research, using psychophysics, neurophysiology and neuroimaging and how they impact on distinct theories of brain functioning of autism spectrum disorder (ASD). We address the neural correlates of perceptual coherence in ASD and showed show that brain activity patterns index abnormal coherence but into a different extent than expected from the weak coherence hypothesis.

We finally address the use of novel therapeutic approaches in ASD, using Neurofeedback, Brain Computer Interfaces coupled with Serious Games and Brain Stimulation.

Welcome!