Gene responsible for neurodevelopmental disorders identified

Many cognitive abnormalities are caused by missing pieces of genetic material in a person’s genome

March 06, 2018 05:13 pm | Updated 05:14 pm IST

 Artist's illustration of a DNA double helix

Artist's illustration of a DNA double helix

Researchers, including one of Indian origin, have identified a gene responsible for neurodevelopmental disorders such as autism, an advance that may lead to better treatments.

“Our studies reveal that in complex brain disorders that have a loss of many genes, a single deleted gene is sufficient to cause symptoms for the patients,” said Karun Singh from McMaster University in Canada. “This is exciting because it focuses our research effort on the individual gene, saving us time and money as it will speed up the development of targeted therapeutics to this gene alone.”

Many neurodevelopmental disorders are caused by large missing pieces of genetic material in a person’s genome that contain several genes, termed a ‘microdeletion’ Accurately diagnosing a gene microdeletion helps doctors to predict patient outcome and to determine if a new treatment is available.

The researchers used genetically engineered models and computer algorithms to study a human genome, which allowed them to pinpoint the single gene in question.

“Our next step is to screen candidate drugs that correct the cognitive brain deficits caused by genetic mutations in TAOK2, and identify candidates for pilot clinical trials,” said Singh, co-author of the study published in the journal Molecular Psychiatry .

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