Ping-Yee Au
Positions
Full Member
Alberta Children's Hospital Research Institute, Owerko Centre
Affiliations
Clinical Assistant Professor
Cumming School of Medicine, Department of Pediatrics
Clinical Assistant Professor
Cumming School of Medicine, Department of Medical Genetics
Clinical Geneticist
Alberta Childrens Hospital
Contact information
Background
Credentials
MD, PhD, FRCPC, FCCMG,
Educational Background
FCCMG (Canadian College of Medical Geneticists)
FRCPC (Fellow of the Royal College of Physicians of Canada) Medical Genetics and Genomics, University of Calgary,
PhD Cellular and Molecular Biology, Dept. of Medical Biophysics, University of Toronto,
MD University of Toronto,
Biography
I am a medical geneticist and clinician–scientist with a PhD in cell signaling biology whose work focuses on neurodevelopmental and neurogenetic disorders. My research aims to improve diagnosis, phenotypic characterization, and understanding of disease mechanisms underlying genetic neurodevelopmental disorders (gNDDs), spanning gene discovery and novel genomic approaches for early diagnosis through to natural history studies that inform clinical outcomes and therapeutic development.
I have contributed to the discovery and characterization of more than a dozen novel genetic disorders, including identifying HNRNPK as the causative gene for Au-Kline syndrome. As an investigator within the national Care4Rare genomics consortium, I collaborate on gene discovery efforts and lead multisite natural history studies for conditions such as HNRNP-related disorders and Angelman syndrome. I also serve as clinical lead for the Functional Genomics program at the University of Calgary, where we use cell-based assays to investigate genes and variants of uncertain significance and understand how genetic variation disrupts molecular and cellular pathways that ultimately shape clinical phenotypes.
My work is highly collaborative and translational, bringing together clinical, molecular, and model organism researchers to better understand genotype–phenotype relationships and translate genomic discoveries into improved patient care. I am also involved in implementing novel genomic technologies into clinical practice, including rapid exome sequencing and DNA methylation episignature testing. Through the GENIe quality improvement initiative, I am leading the development of a coordinated multidisciplinary care pathway for children with gNDDs in Southern Alberta to reduce diagnostic delays and improve access to integrated developmental care.
In addition to research and clinical work, I am actively involved in education and training through leadership roles in the RCPSC Medical Genetics and Genomics residency program and the Suchowersky-Eagle Neurogenetics fellowship.
Awards
- Clinical Teaching Award, Department of Medical Genetics, CSM, University of Calgary . 2025
- PGME Teaching Award, Cumming School of Medicine, University of Calgary . 2024
More Information
Selected Leadership Activities
Education Leadership:
June 2025 – May 2026: Co-interim program director RCPSC Genetics and Genomics Residency Program
2023 – 2025: RCPSC Genetics and Genomics Residency Competence Committee Chair
Selected Committees:
2022 – current Clinical lead, Functional Genomics Lab, University of Calgary
2020 – current HNRNP Family Foundation medical and scientific advisory board
2020 – 2022 CCMG Neurodevelopmental working group committee
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