This technology developed at the University of Aberdeen relates to the discovery of mutation of a single gene in individuals with classical autism. The gene is involved in protein translation and offers possibilities in the diagnostic and therapeutic markets for those with autism spectrum disorder.

About the technology

In a recent breakthrough at Aberdeen University, a team of scientists pinpointed the site of a gene disruption in an autistic child with a unique chromosome rearrangement. Expression of the gene is dramatically reduced in this child. They have now demonstrated different abnormalities in this same gene in other children with autism, these abnormalities have not been found in 500 unaffected individuals tested.

To date, little is known about the causes of autism. Recent large association studies have identified a small number of candidate genes, but none of these give clear functional evidence of causation in classic autistic disorder. The vast majority of the genetic contribution to autism remains unexplained.

This discovery provides a clear window to a new area of investigation in the causation of autism. It provides new opportunities not only for diagnosis, but for therapeutic development for this untreatable and devastating disorder.

Benefits and applications


Fragile X testing and karyotyping are routinely performed although these tests are only indicative and not specific for autism. Only 2-5% autistic individuals will be positive for Fragile X. Behavioural testing is performed when the child is older and is considered subjective and inconsistent.  This breakthrough will enable genetic testing to be accurate and identify individuals at an earlier age for therapy. In addition the gene offers a pathway to be explored as a therapeutic target.


  • Genetic predisposition testing
  • Gene centrally involved in protein translation
  • Therapeutic potential
  • Diagnostic genetic testing expertise
  • Laboratory has expertise in genetic test development

Granted UK patent number 2473575

For further information, contact

Dr James Duncan, Research & Innovation
Email: James Duncan
Tel: 01224 272918