Past Rounds

Risk evaluation and omics screening for targeting prevention in endometrial cancer 
Leads: Aline Talhouk, Department of Obstetrics and Gynaecology, Faculty of Medicine; Vancouver Coastal Health Research Institute; Women’s Health Research Institute, Anna Tinker; Department of Medicine, Faculty of Medicine; BC Cancer 
Summary: Evaluate the utility of omics data obtained from minimally invasive self-testing tools, to predict Endometrial Cancer (EC) pathology and improve screening. This involves determining whether self-collected, at-home minimally invasive vaginal sampling of DNA and/or vaginal microbiome are able to predict malignant endometrial changes and stratify which patients should receive an endometrial biopsy. 

Parent-of-Origin-Aware Hereditary Cancer Diagnostic and Cascade Genetic Testing  
Leads: Kasmintan Schrader, Department of Medical Genetics, Faculty of Medicine, BC Cancer 
Stephen Yip, Department of Pathology and Laboratory Medicine, Faculty of Medicine; Vancouver Coastal Health Research Institute 
Summary: Generate real-world sensitivity and specificity data for calculation of optimal sample sizes needed to validate Parent of Origin(P-O)-aware genetic testing in additional Hereditary Cancer (HC) and other actionable genes. This involves a characterization of P-O effects in SDHD and SDHAF2 PV carriers, a protocol to assign P-O to SDHD variants to support personalized management recommendations, and a method to assign P-O to alleles of common HC genes and other non-cancer related actionable findings to enable focused CGT strategies. 

An AI model to predict future lung cancers risk with low-dose screening CT 
Leads: Ren Yuan, Department of Radiology, Faculty of Medicine; BC Cancer 
Calum MacAulay, Department of Physics and Astronomy, Faculty of Science, BC Cancer 
Summary: Use radiomic features and AI models to identify sub-visual changes of the “normal” lung before future cancer develops within a year and compare to those from the “normal” lung where a future benign nodule develops. This involves developing an AI tool that can predict the risk of future lung cancer from a “normal-looking” lung to human eyes on LDCT and validating it in further prospective studies. This pilot project will lay the groundwork to prospectively evaluate the utility of this AI algorithm using the BC Lung Screening Program that will launch across BC in April of 2022 and for national and international collaborative studies with other research groups. 

Precision Health Care to Improve the Quality of Life and Long-term Health of People Entering Premature Surgical Menopause 
Leads: Gillian Hanley, Department of Obstetrics and Gynaecology, Faculty of Medicine; Vancouver Coastal Health Research Institute; Women’s Health Research Institute  
Janice Kwon, Department of Obstetrics and Gynaecology, Faculty of Medicine, BC Cancer 
Summary: Understand how precision medicine can be used to improve the quality of life and long-term health of patients entering premature surgical menopause and apply lessons learned to a wider population of patients who would not be eligible to be seen at the clinic. This involves generating data as a catalyst for a broader project to address quality of life and longer-term health outcomes in this larger and more diverse patient population entering premature surgical menopause. 

Metabolite Control of Microbiome-Microglia Communication in Pediatric Inflammatory Bowel Disease (IBD)
Leads: Carolina Tropini, School of Biomedical Engineering, Faculty of Medicine and Applied Science; Department of Microbiology and Immunology, Faculty of Science 
Annie Ciernia, Department of Biochemistry and Molecular Biology, Faculty of Medicine; The Djavad Mowafaghian Centre for Brain Health 
Summary: Determine the impact of early life gut inflammation on social behavior and cognition and microbiota-brain communication by capturing the full spectrum of changes and identifying novel metabolites that are altered in pediatric IBD in both sexes. The pilot project predicts that metabolite changes signal to the brain microglia and promote inflammation, which will be examined in future studies. 

Uncovering patient-specific genetic factors that can be used to optimize morphine-based pain relief while avoiding harm
Leads: Catrina Loucks, Department of Pediatrics and Anesthesiology, Pharmacology and Therapeutics, Faculty of Medicine; BC Children’s Hospital Research Institute 
Colin Ross, Faculty of Pharmaceutical Sciences, BC Children’s Hospital Research Institute 
Summary: Catalyze the identification of clinically-relevant genetic factors that predict the safe and effective use of morphine in children through development of a C. elegans platform to validate the roles of novel genetic variants impacting morphine responses uncovered through a larger grant. 

Use of Long Read Whole Genome Sequencing to Drive Community-Based Patient-Oriented Care for Autism Spectrum Disorder  
Leads: Anamaria Richardson, Department of Pediatrics, Faculty of Medicine; BC Children’s Hospital Research Institute 
Suzanne Lewis, Department of Medical Genetics, Faculty of Medicine; The Djavad Mowafaghian Centre for Brain Health; BC Children’s Hospital Research Institute 
Summary: Use new methods of long read whole genome sequencing to ascertain culpable variants within individuals and families with ASD to provide earlier, targeted, and individualized treatment. This involves completing a workup of patient genome and key findings for correlation to variants identified and for translation to precision medicine practice. Patients and families will also receive genetic counseling related to the findings.