Assistant Professor, Department of Medical Genetics / Molecular Geneticist, Genetic Lab Services, Alberta Health Services
Alberta Children's Hospital
2888 Shaganappi Trail NW
Calgary AB T3B 6A8
Discovering the underlying genetic cause of Mendelian diseases
Primary Area of Research:
My research focuses on identifying the underlying genetic cause of congenital anomalies and intellectual disability in children using next-generation sequencing. This work is done in a multidisciplinary collaborative environment with close interactions with clinicians, especially those in Medical Genetics, and basic science researchers. Using this approach our group has recently discovered the underlying cause of a novel syndrome of ataxia with hyperkinetic movement, myopathy, and intellectual disability resulting from delayed trafficking of molecules to the cell membrane. In my unique position, I am able to facilitate translational research where the genes and mutations identified in the research laboratory can be moved into the clinical setting to provide genetic testing for not only additional family members but for additional families to help provide a diagnosis where one may not have been possible before. I also have a long-standing interest in improving our understanding of the genetics of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency and improving our diagnostic testing capabilities for this disorder.