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.
Professor Michael Corrin
Professor Shelley Wall
Ny Hoang (genetic counsellor in the Autism Research Unit, Sickkids Research Institute)
Parents of children diagnosed with ASD, general public with an interest in genetic testing for ASD
Interactive, web-based resource (link)
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.
1. Hoang, N., Cytrynbaum, C., & Scherer, S.W. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Patient Educ Couns, 101(2), 352-361.
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.
Dr. Christine Bear (Principle investigator, Sickkids Research Institute)
Dr. Scott Heximer (University of Toronto)
Dr. Wolfgang Kuebler (University of Toronto)
Dr. Russell Viirre (Ryerson University)
1. Hamilton, C.M., Hung, M., Chen, G., Qureshi, Z., Thompson, J.R., Sun, B., Bear, C.E., & Young, R.N. (2018). Synthesis and characterization of a photoaffinity labelling probe based on the structure of the cystic fibrosis drug ivacator. Tetrahedron, 74(38), 5528-5538.
2. Chin, S., Hung, M., Won, A., Wu, Y., Ahmadi, S., Yang, D., Elmallah, S., Toutah, K., Hamilton, C.M., Young, R.N., Viirre, R.D., Yip, C.M., & Bear, C.E. (2018). Lipophilicity of the Cystic Fibrosis drug, Ivacaftor (VX-770), and its destabilizing effect on the major CF-causing mutation: F508del. Mol Pharmacol, 94(2), 917-925.
3. Xu, W., Sachewsky, N., Azimi, A., Hung, M., Gappasov, A., & Morshead, C.M. (2017). Myelin basic protein regulates primitive and definitive neural stem cell proliferation from the adult spinal cord. Stem Cells, 35(2), 485-496.
4. Chin, S., Hung, M., & Bear, C.E. (2017). Current insights into the role of PKA phosphorylation in CFTR channel activity and the pharmacological rescue of Cystic Fibrosis disease-causing mutants. Cell Mol Life Sci, 74(1), 57-66.
5. Molinski, S.V., Ahmadi, S., Hung, M., & Bear, C.E. (2015). Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening. J Biomol Screen, 20(10), 1204-1217.
© 2019 by Maurita Hung. All rights reserved.