Medicine & Dentistry-Medical Genetics
University of Alberta
Summary of research:
I am a medical geneticist with experience both in the field of clinical and molecular genetics. Identifying phenotypes is a mainstay of my clinical practice and is a fundamental step towards starting to understand the underlying mechanism of genetic disorders. Identifying a cause for a genetic condition is central for building a personalized management of both the patients and their families including investigations, genetic testing, family genetic counseling and planning, and access to community resources. My expertise has been enhanced for the past couple of years by the use of next generation sequencing (NGS) techniques that enabled our group to discover the main gene responsible for Nager syndrome. Currently, I have under investigation 2 newly discovered genes. In my new capacity at the University of Alberta, I would like to continue through collaborative studies to explore my discoveries by understanding the role of genes through functional studies opening the prospective of exploring therapeutic avenues. Another focus will be the translation of genomic techniques used in my projects to the clinical practice of both general and prenatal genetics.