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News Release - New research promises to have immediate impact for individuals and their families with autism spectrum disorder

Monday, July 27, 2020

(July 27, 2020) New research from The Hospital for Sick Children (SickKids) with collaborators at Queen’s significantly advances our understanding of the human genome and promises to have immediate impact for individuals with autism spectrum disorder (ASD) and their families. A research lab at Queen’s University contributed to the study, which was published in the high-profile journal Nature.

Current research estimates that genetic factors should be found in anywhere from 50 to 90 per cent of individuals with ASD. Yet, scientists are only able to identify the genetic factor underlying autism for less than 20 per cent of people.

Now, a research team led by Dr. Ryan Yuen, a Scientist in the Genetics & Genome Biology program at SickKids, has moved the needle, uncovering new genetic contributors for autism.

The research team wanted to look at the implications of tandem repeats in the DNA of people with ASD. A tandem repeat occurs when nucleotides, known as the building blocks of DNA, are repeated adjacently two or more times. These repeats are like DNA “wrinkles” and the larger they become, the greater the likelihood that errors in gene function will result.

Previously, scientists could only search for tandem repeats in one gene at a time and were faced with challenges in determining whether a tandem repeat was long enough to impact gene function. With close to a million tandem repeats in the genome, looking for tandem repeats that contribute meaningfully to ASD would be like looking for a needle in a haystack.

Dr. Yuen’s team developed an analytic approach that could search and find significant tandem repeat expansions across the entire genome.

Queen’s Genomics Lab at Ongwanada has several independent and collaborative projects designed to identify and understand the etiology underlying complex neurodevelopmental and neuropsychiatric disorders. The Queen’s group is part of the Province of Ontario Neurodevelopmental Disorders (POND) Network, a research network striving to understand the biology underpinning neurodevelopmental disorders to improve diagnosis, care, and long-term outcomes for children. It is one of six sites that are recruiting children with neurodevelopmental disorders (including ASD, ADHD, and intellectual disability) to be part of the study. They collect comprehensive phenotype data (like IQ testing, language assessments, and MRI) and genotype data (DNA) for each participant and share that data with the larger network.

Contact qpond@queensu.ca to find out more about the study.

“By applying our method to a condition as complex as ASD, which can have a wide variety of outcomes from one person to another with different comorbidities, we’ve shown our approach can effectively detect tandem repeat expansions, no matter the clinical presentation. It is crucial to examine the entire genome to fully understand how genetics contribute to these complex conditions,” says Yuen. “Discovering the impact of tandem repeat expansions and where they are located has major implications for the future of precision medicine in many neurodevelopmental conditions.”

- Dr. Ryan Yuen, Scientist in the Genetics & Genome Biology program at SickKids

“Our ongoing efforts to describe the full genetic basis of complex neurodevelopmental disorders can only be accomplished by the dedication of our past and future research participants, and we are immensely thankful for their commitment.”

-Dr. Calvin Sjaarda, Professor in the Department of Psychiatry at Queen’s University and at the Queen’s Genomics Lab at Ongwanada

The Hospital for Sick Children
The Hospital for Sick Children news release

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Anne Craig 
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