Duke-NUS led study identified gene network responsible for cognition and neurodevelopmental diseases.
  • First time that a study demonstrates genetic convergence between cognition and neurodevelopmental disorders in the human brain
  • The researchers used System Genetics - a method that evaluates groups of genes working together in a network, instead of identifying single genes
  • Findings can help develop future strategies to treat neurodevelopmental disorders
A study by Duke-NUS and Imperial College London (ICL) has identified a network of genes in the brain that regulates normal cognitive abilities. This finding provides a new path for development of new therapies for disorders such as autism, epilepsy, intellectual disability and schizophrenia.

Led by Assoc Prof Enrico Petretto, head of the Systems Genetics of Complex Disease Laboratory at Duke-NUS, the research team looked at gene networks in the brain and pinpointed one network with 150 genes that has a major influence on general cognitive abilities. 
The team observed that about a third of the genes in this network are mutated in various neurodevelopmental disorders. This is unforeseen – as the majority of these genes had never been connected to each other before.

In addition, they found that the genes are already highly active following birth, indicating that the genes play a role in brain development and neurodevelopmental disorders.
In many neurodevelopmental disorders, the impairment of cognitive abilities is reported to be a core clinical feature.
However, no explanation had been provided for this association, until now. “The results of our study in the human brain show a previously unappreciated functional relationship between cognition and neurodevelopmental disorders’ genes. This gives us the first explanation to why the two seem to be related,” said Prof Petretto.

The researchers used a new approach called Systems Genetics to study networks of genes, rather than investigating single genes. Prof Petretto compared the strategy to football: to outplay a rival team, the focus should not be placed on a single player – even if it happens to be a Lionel Messi. Instead, the focus should be on understanding how the whole team cooperates and breaking down their strategy.

Duke-NUS aims to identify the regulatory factors of this network, which can help to develop future strategies to treat neurodevelopmental disorders.

The study was supported by funds from the Duke-NUS Signature Research Programme, with funding from the Singapore Ministry of Health. The findings were published online in Nature Neuroscience on 21 December 2015.