Autism Innovative Medicine Studies 2-Trials


 Autism Innovative Medicine Studies-2-Trials (AIMS-2-TRIALS) is a European research programme involving multiple collaborative studies aiming to explore the biology of autism and to develop and tailor effective treatments.

The Synaptic Gene Study (SynaG)

 In collaboration with colleagues at King’s College London (KCL), we will investigate rare genetic variants associated with neurodevelopmental disorders including autism spectrum disorder (ASD).

Genes are pieces of DNA that provide instructions during growth and development. Sometimes, during development, pieces of our DNA can change spontaneously. This change is called genetic variation and the pieces of DNA that change are called genetic variants. Rare genetic variants are uncommon changes that can happen during development. Approximately 1 in 10 autistic people also have a rare genetic condition that may play a role in their symptoms, each individual genetic condition however may be very rare.

We will focus on rare genetic variants that affect the way that nerve cells develop and communicate with each other across junctions, called synapses. Nerve cells are the building blocks of the brain and changes in their structure and activity could have broad effects on how a person thinks and behaves. The purpose of this study is to investigate if there are any characteristic features in individuals with these rare genetic conditions that have been associated with ASD.

For this study we will use multiple measures to study relationships between rare genetic conditions, brain structure and function, and how a person thinks or behaves. These measures include:

1. Genetics: Whole genome sequencing using blood and saliva samples

2. Cognition and behaviour: pen-and-paper tasks, computerised tasks, questionnaires, eye-tracking

3. Brain structure and function: brain scans with magnetic resonance imaging (MRI) scanners, brain electrical activity recordings with electroencephalography (EEG)

We hope to establish subgroups of which we hope will help in the development of new therapeutic and diagnostic strategies in the future.