The problem we care about
Some children are born unable to carry out a single chemical step that the rest of us never think about. It could be a vitamin that does not reach the part of the cell that needs it, or a waste product that builds up where it should be cleared. These biochemical changes leave molecular fingerprints that can have profound consequences, including epilepsy, anemia, developmental disability, and progressive neurological disease.
Molecular Fingerprinting of Genetic Disease
From genetic variation to mechanism and therapy
Every disease-causing genetic variant leaves a characteristic molecular fingerprint. By integrating functional genomics, metabolomics, organelle profiling, and disease models, we define how genetic variation alters cellular function and metabolism. These molecular fingerprints provide powerful insights into disease mechanisms, reveal biomarkers for diagnosis and monitoring, and uncover new opportunities for therapeutic intervention.
Our laboratory specializes in identifying and interpreting these molecular fingerprints to uncover disease mechanisms, discover biomarkers, and reveal new therapeutic opportunities.
How we work
A defining strength of the laboratory is the integration of functional genomics and mass spectrometry. We use CRISPR-based genome engineering and genetic screens to identify disease mechanisms, and advanced metabolomics and proteomics to define the molecular fingerprints created by disease-causing genetic variants. Using patient-derived samples, stem cell models, and animal models, we investigate disease biology across multiple systems and scales. Our goal is to uncover fundamental principles of human metabolism and identify new opportunities for therapeutic intervention.
Transport Biology
How molecules reach their destination and what happens when they don't
Disease Mechanisms
Identifying hidden biological defects in genetic disease
Precise Measurement
Mass spectrometry to define molecular fingerprints
Translation
From molecular fingerprints to mechanism and therapy
Where we work and who we are
Based at the CHEO Research Institute and the University of Ottawa, we are a team of scientists working closely with clinicians, patient families, advocacy organizations, and collaborators across Canada and internationally. These partnerships help ensure that the molecular fingerprints we discover can ultimately be translated into meaningful advances for patients affected by rare disease.
Together, these molecular fingerprints tell the story of our laboratory and the diverse perspectives that drive discovery.
We are often recruiting students and trainees passionate about metabolism, genetics, and rare disease research, reach out!
We are a lab member of the Department of Cellular and Molecular Medicine (CMM) and Ottawa Institute of Systems Biology (OISB)
