Billie (Ping-Yee) Au

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,” i.e. 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.