Mary Ann Thomas

Associate Professor

Department of Medical Genetics

MD, CM


Contact information


Research

Areas

  • Genetic Disorders, Prenatal Diagnostics, Rare Diseases

Research Summary

I am a clinical geneticist and cytogeneticist and my primary clinical genetics interests include rare chromosome anomalies and Prenatal Genetics, with additional interests in genetic endocrine and hematological conditions. I co-lead the 22q11.2 deletion syndrome clinic network at the Alberta Children’s Hospital and have an interest in comprehensive and life-long care for this diagnosis.

My research interests include: 1. The delineation of clinical features in rare chromosome anomalies. 2. Funded research to study the clinical utility of incoming new genetic tests, such as chromosome microarray (array CGH), whole exome sequencing and NIPT (non-invasive prenatal testing) in the Prenatal Genetics clinic and I also am interested in the process of implementing these tests into that clinic in a responsible manner.