Genome technologies have progressed so rapidly that we are now able to accurately detect genetic variation in patients. I find tackling the challenges of interpreting and handling the abundance and ambiguity of genome-wide data to permit early diagnosis of genetic disorders to be very intriguing. I believe there are many new beneficial and exciting discoveries waiting to be found, hidden within nature, and I want to be instrumental in uncovering them.
Morteza’s project is to identify rapid and efficient bioinformatics tools for clinical diagnostic lab researchers to prioritize predicted deleterious variants for further experimental characterization. He focuses on discovering the etiology of Axenfeld-Rieger Syndrome (ARS) in patients, who typically have eye defects and may also present with dental, jaw, and umbilical anomalies. About 50% of ARS patients develop glaucoma, a progressive blindness. Morteza has performed a wide variety of molecular techniques to identify novel variants in FOXC1 and PITX2 and investigated the mechanisms by which these variants disrupt FOXC1 and PITX2 expression, structure and function and has applied a combination of bioinformatics tools to predict the pathogenicity of variants in FOXC1 and PITX2. To assess the performance of these bioinformatics programs in identifying deleterious variant, Morteza compared the results of his functional analysis and previous experimental data with bioinformatics findings.
Coming from Iran, with a BSc and MSc from Tehran University of Medical Sciences, Morteza chose Canada, particularly the University of Alberta, for its excellent reputation based on research, quality of teaching, graduates’ employability and internationalization. The Department of Medical Genetics is composed of a high profile and interactive group of scientists with an international reputation in molecular, developmental and quantitative genetics, an excellent graduate training program, and outstanding graduate students. Morteza fits in well – since arriving at U of A he has won 12 competitive awards in addition to the Killam, including the Alberta Innovates Health Solutions (AIHS) scholarship and has published six papers in journals such as Acta Ophthalmologica, Human Mutation, and PLoS One. Overall his work has resulted in 33 peer-reviewed journal articles, two book chapters, and numerous conference presentations
When not studying or conducting research Morteza enjoys solving puzzles, traveling and music.
