Child Health & Wellness Researcher
Medical Scientific Director of Genetics and Genomics
PhD (Doctor of Philosophy)
- Genetic disorders
- Neurodevelopmental disorders
- Metabolic diseases
- Rare diseases
My research interests involve the identification of genes for rare genetic disorders, the translation of these discoveries to the clinic and the implementation of new molecular testing paradigms for newborn screening.
A major emphasis of my group is directed at diagnosing the undiagnosed patient. After exome/genome sequencing, more than 60 per cent of patients with a genetic disorder still go undiagnosed. Using a combination of state of the art molecular tools, we functionally characterize DNA sequence variants and genes of unknown function to identify the cause of the disorder and end the diagnostic odyssey of the patient and their family.