Synaptic, cellular and neural circuit dysfunction in Down syndrome 

Down syndrome (DS) is a genetic disorder caused by having an extra chromosome, which consequently provides an extra copy of many genes. People with the syndrome have poor decision-making and memory skills. This arises from too much inhibition of brain activity, which is caused by the neurotransmitter gamma aminobutyric acid.  

By studying the brain’s electrical activity, visualising brain cells and using genetic engineering, we will identify the duplicated DS genes and reduce their expression and impact. We will use mouse models with duplicated genes that are involved in DS, and a corresponding set of human stem cells from a person with DS. This will help elucidate the mechanisms underlying neurological deficits in DS.

By reducing the activity of identified genes and by dampening brain inhibition using new types of drugs, we aim to develop life-changing therapies for people with DS.