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�ؿ�ζSM Professor Stephen Scherer was surprised to find his name on a short list of possible winners of the 2014 Nobel Prize for Physiology or Medicine that was published by , a Thomson Reuters publication.

“I had to pinch myself,” Scherer told .

Scherer, whose research focuses on autism spectrum disorder (ASD), is director of the McLaughlin Centre for Molecular Medicine at the �ؿ�ζSM and director of The Centre for Applied Genomics at The Hospital for Sick Children.

He holds the GlaxoSmithKline-Canadian Institutes of Health Research Chair in Genetics and Genomics and recently led an international group of scientists that developed for autism diagnosis.

Science Watch credits Scherer and his collaborator Charles Lee of the Jackson Laboratory for Genomic Medicine with identifying “copy number variation” – or CNVs – in the human genome. At a time when most researchers believed that the human genome was 99 per cent identical among all humans, Scherer and Lee showed that CNVs accounted for roughly one in ten of all known genes. While not all CNVs lead to disease, some do, which has become the focus for Scherer’s later work. Science Watch also recognized Michael H. Wigler of the Cold Spring Harbor Laboratory, who conducted similar research while working independently.

In , Scherer and his team identified the formula for diagnosing autism spectrum disorder (ASD) at an earlier age. This will let patients receive therapies at an earlier age, while helping to create more advanced genetic diagnostic tests. The research unravels the autism code by creating a “genetic formula” that will help clinicians identify genetic mutations that have the highest and lowest likelihood of causing ASD.

Social media has been buzzing since Science Watch published its prediction. The 2014 Nobel Prize in Physiology or Medicine will be announced on Monday, October 6 at the Karolinska Institutet in Stockholm, Sweden.

Liam Mitchell is a writer with the Faculty of Medicine at the �ؿ�ζSM.