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SCC-RI scientist unravels genetic mystery causing complex brain disorders, including autism

Karun Singh

Karun Singh | Monday, March 5, 2018

Dr. Karun Singh and his team pinpoint key genes causing brain development disorders


Dr. Karun Singh's team found alterations of the gene 'Thousand and One Amino-Acid Kinase 2, known as TAOK2, plays a direct role in these disorders. This is the first comprehensive study that supports previous research suggesting the involvement of this gene.

Many neurodevelopmental disorders are caused by large missing pieces of genetic material in a person's genome that contain several genes, termed as 'microdeletion'. Accurately diagnosing a gene microdeletion helps doctors predict patient outcome and determine if a new treatment is available. TAOK2 is one of ~30 in the 16p11.2 microdeletion regions, but the study by Singh's lab and colleagues suggests this gene has significant clinical importance. Using genetically engineered models and computer algorithms to study a human genome, this allowed the team to pinpoint TAOK2 as the gene in question. Given these findings, the next step is to identify drugs or small molecules that reverse the neurological deficits caused by TAOK2 mutations. To do this, Singh and his team are turning to human stem cell models that can be used to make human neurons, study TAOK2, and perform novel drug screens.

The research was led by Singh in collaboration with Stephen Scherer from the Hospital for Sick Children.

Funding for the research was provided by the Canadian Institutes of health Research, Ontario Brain Institute, Autism Speaks, Brain and Behavioral Research Foundation and the Natural Scinece and Engineering Research Council.

Karun Singh

Karun Singh

Principal Investigator