Genetics

MicroRNAs (miRNAs), small noncoding regulators controlling approximately 60 per cent of human genes, have strong diagnostic potential due to their stability in extracellular fluids and ability to modulate complex gene networks. However, blood-based miRNA findings remain inconsistent, highlighting the need for alternative, scalable biofluids. This study aims to demonstrate the translational potential of tear-fluid miRNAs as non-invasive, clinically relevant early biomarkers for diagnosing sporadic Alzheimer’s disease.

The purpose of this study is to make heart care both personalized and easy to access, regardless of location. The MOSAIC study team brings together heart ultrasound (including point-of-care ultrasound), blood tests, genetics and clinical information, then uses secure, advanced computing to find patterns that typical care can miss. The goal is simple: earlier answers and better-fitting tests and treatments, available at the point of care, from big city hospitals to rural and remote clinics. 

The purpose of this study is to determine if self-collected vaginal swab specimens can be used to detect the mutation status of an individual’s BRCA gene. If proven, this method could offer a simple, accessible alternative to blood-based genetic testing, potentially making population-wide genetic testing for hereditary cancer risk more feasible in B.C.

The purpose of this study to evaluate the effect of venglustat on left ventricular mass index in adult participants with Fabry disease and left ventricular hypertrophy. Participants in this study will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat).

The purpose of this study is to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male participants with classic Fabry disease who have been treated for at least two years with lucerastat monotherapy in a prior study.

The purpose of this study is to collect biospecimens (fecal, urine, blood) and clinical data to serve as a resource for future research on Parkinson’s disease and other movement disorders. The careful collection, storage and retrieval of biospecimens and medical information for research projects are critical for improving understanding of healthy development and disease mechanisms and the subsequent development of effective treatments. Biospecimens from this biobank will be made available for ethically-approved studies.

The purpose of this study is to test whether a specific combination of biomarkers discovered during previous studies can help predict how someone experiencing a major depressive episode will respond to treatment. The study will also explore other possible biomarkers that may predict treatment response, which may help in the future development of tests that can guide treatment choice more effectively and more quickly.

The purpose of this study is to identify inheritable mutations among male breast cancer participants by performing genetic testing on their cancer samples, instead of blood samples (such as tumour testing). This testing will allow researchers to identify inheritable mutations when blood samples are not available. This study will evaluate the clinical utility and the feasibility of offering the tumour testing in newly diagnosed male breast cancer patients.

The purpose of this study is to understand the ability of genetic testing to identify familial hypercholesterolemia among patients with acute cardiac event in hospital settings and to investigate the impact of genetic diagnosis on physician behaviour, medication use and decreasing cholesterol to an acceptable level.