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New Approach to Autism Spectrum Disorder Offers Earlier Diagnosis and Treatment Options

By April 5, 2017No Comments

Autism Spectrum Disorders (ASDs) are defined by significant challenges with communication, social reciprocity, and structured behaviour. ASDs are currently the most common childhood developmental disabilities with 1 in 68 individuals currently diagnosed with ASD. The lifetime cost for educational, health-care, and social services averages $5-8 million per person, and British Columbia alone contributes hundreds of millions of dollars to treatment programs, such as intensive behavioural intervention programs every year.

While beneficial, these programs are not enough to treat the many causes and changing symptoms of individuals on the spectrum as they mature from children to adults in society. The numbers of diagnoses each year is also on the rise and these growing numbers present serious social and economic implications for BC and Canada. More evidence-based research into early diagnosis and therapy development is urgently needed. A new project, funded in part by Genome British Columbia (Genome BC), will develop strategies to identify children with, or at risk for, ASDs much earlier. The project will also help to uncover the underlying causes and pathways of ASDs and define what personalized therapies have the most impact on individual children and why they are successful.

“iTARGET will begin to enable earlier, more accurate diagnoses and personalized treatments for behavioural and bio-medical therapies, which hold tremendous promise for the development of effective medical treatments for ASD”. says Dr. Suzanne Lewis, Senior Clinician Investigator, BC Children’s Hospital Research Institute and Clinical Professor, Department of Medical Genetics, UBC, and Vice President Research and Chief Medical Officer for the Pacific Autism Family Network (PAFN).

The research project, Individualized Treatments for Autism Recovery using Genetic-Environment Targets (iTARGET) addresses three major challenges lacking from current global research. First, there is limited ability to diagnose different types of ASDs, as the current method relies on behavioural criteria rather than an understanding of the underlying biology. Second, these behaviours are the result of constantly changing, extremely complex biological systems. And third, there are underlying molecular triggers to ASDs that are exacerbated by the environment. As an example, current research demonstrates that more than 50% of individuals with ASDs also have gastrointestinal issues, and the diversity of microorganisms in the gut and their metabolic by-products influence behaviour in important ways.

Of equal importance, the whole genome sequence data generated by this project will contribute to existing studies of genomic associations with ASDs through collaboration with the largest-scale genome study of autism, called the MSSNG project, led by Dr. Stephen Scherer in Ontario and funded by Autism Speaks.

“The collaboration between iTARGET and MSSNG will continue to make Canadians, coast-to-coast, a major contributor to the MSSNG project, and thereby setting a basis for other collaborative initiatives that support global and Canada-wide treatment and care for people living with autism,” says Dr. Scherer, Research Director for the MSSNG project. Scherer is also Director of The Centre for Applied Genomics (TCAG) and Senior Scientist at The Hospital for Sick Children (SickKids), as well as Director of the McLaughlin Centre and Professor in the Department of Molecular Genetics at the University of Toronto.

Dr. Suzanne Lewis, as the VP Research and Chief Medical Officer of the PAFN, will be recruiting individuals for this study. As well, a number of these individuals will be receiving treatment through the PAFN. The medical clinic in the PAFN, under the supervision of Dr. Lewis and her colleagues, is planning to roll out different molecular tests, as these become validated, that will assist with the treatment of individuals on the spectrum.

“iTARGET is a ground-breaking look at the molecular mechanisms behind a poorly understood disease- this is precision healthcare in action,” says Dr. Catalina Lopez-Correa, Chief Scientific Officer and Vice President, Sectors at Genome BC. “Dr. Lewis and her team are taking a comprehensive approach that should make a significant difference to diagnosis and treatment for ASDs.”

This project is valued at over $7 million and was funded by Genome BC and Autism Speaks. Additional support for the management and development of this project has been provided by the Personalized Medicine Initiative, the UBC Life Sciences Institute and the BC Children’s Hospital Research Institute. For more information on Genome BC’s funding programs, visit