Master's Research Project (MScBMC)

Genetic testing in the field of Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a prevalence rate of 1 in 68 children. The cause of the disorder is unknown, but research suggests that it involves a combination of both genetic and environmental factors.

Due to recent advances in DNA sequencing technology, next generation DNA sequencing is being incorporated into clinical practices, enabling researchers to obtain genetic data from ASD patients and elucidate the genetic variants that contribute to the disorder. Ultimately, this may lead to earlier diagnosis and intervention for future generations. The integration of next generation DNA sequencing into clinical practices also benefits patients as it can be used to identify other fatal genetic disorders that are sometimes associated with ASD and advise parents on recurrence risk.

Despite the benefits of genetic testing in the ASD field, there remains two communication gaps between families of patients affected by ASD and genetic counsellors. First, there are few patient education resources on why patients with ASD should get genetic testing, resulting in a lack of awareness. The second communication problem is the challenge of explaining complex genomic results to families of patients who choose to undergo genetic testing. This master’s research project aims to bridge both communication gaps through the implementation of an interactive web-based resource.

Supervisory Committee

Professor Michael Corrin
Professor Shelley Wall

Content Advisor

Ny Hoang (genetic counsellor in the Autism Research Unit, Sickkids Research Institute)

Audience

Parents of children diagnosed with ASD, general public with an interest in genetic testing for ASD

Media

Interactive, web-based resource (link)

Website

The patient education tool implements scrollytelling to teach users about genetic testing in the field of autism. Click here to visit the website to learn more.

Progress Work

Coming Soon!


Cystic Fibrosis Research (MSc)

Investigating the Mechanism of Action of VX-770

I previously pursued my Master's of Science in the Department of Physiology at the University of Toronto. I joined Dr. Christine Bear's lab in 2013, where I worked as a graduate student and a research technician to investigate the mechanism of action of Ivacaftor, an FDA-approved drug used to treat cystic fibrosis patients.

Cystic fibrosis is the most common genetic disease affecting the Canadian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, and it is characterized as a multi-system disorder due to the expression of the protein in a number of different organs such as the lungs, pancreas, liver and intestines. Depending on the type of CFTR mutation, disease severity varies from patient to patient.

Supervisor

Dr. Christine Bear (Principle investigator, Sickkids Research Institute)

Committee Members

Dr. Scott Heximer (University of Toronto)
Dr. Wolfgang Kuebler (University of Toronto)
Dr. Russell Viirre (Ryerson University)