University of Calgary
UofC Navigation

Ping-Yee Billie Au


Assistant Professor, Department of Medical Genetics

(403) 955-7246

Alberta Children's Hospital
2888 Shaganappi Trail NW
Calgary AB T3B 6A8

Research Activities: 

My research has focused on identifying the underlying genetic etiology for novel syndromes, and the characterization of these syndromes. I am particularly interested in dysmorphic syndromes that involve intellectual disability, autism, epilepsy and other abnormal neurological phenotypes. I am interested in “reverse phenotyping,” ie. how understanding disease-related genes within the context of their signaling and regulatory networks can inform our knowledge of clinical phenotype and subsequent management and therapy. I am also interested in how knowledge of genetic etiology can be used to improve  management of patients in new ways, such as through identification of potential therapeutic targets in dysregulated cellular pathways. My research applies new genomic technologies such as whole exome sequencing, but will hopefully also involve whole genome and transcriptome approaches in the future.   

Research Areas: 
Identification of genetic etiology for syndromic forms of intellectual disability and use of genomic technologies to improve patient
  • M.D. (Doctor of Medicine)
  • Ph.D. (Doctor of Philosophy)
Associations & Fellowships: