A Memorial graduate played a significant role in research that is helping better diagnose people in this province with one of the world’s most prevalent forms of retinal disease.
Hoda Rajabi, who is originally from Iran and is now a Canadian citizen, completed her master of science degree in human genetics in 2016 under the co-supervision of Drs. Darren O’Rielly, Jane Green and Terry-Lynn Young.
Common in N.L.
Her thesis focused on Stargardt disease, a hereditary eye disease that is common in Newfoundland and Labrador.
Stargardt is caused by mutations of a gene known as ABCA4.
A new paper, The Genetic Architecture of Stargardt Macular Dystrophy (STGD1): A Longitudinal 40-year Study in a Genetic Isolate, highlighting Ms. Rajabi’s and her supervisor’s research, was recently published in the European Journal of Human Genetics.
“My role was to design a clinical panel to search for these mutations in different individuals using a novel technology in a clinical field,” Ms. Rajabi told the Gazette.
The new paper highlights the work Ms. Rajabi completed as part of her thesis, as well as the 40 years of research conducted by Dr. Green and work completed in Dr. Young’s lab.
“This will hugely benefit the population of Newfoundland and Labrador.”
Ms. Rajabi used many of the samples collected by Dr. Green during her research career.
Major breakthroughs
The idea was to be able to screen people from Newfoundland and Labrador for these mutations, in-house and more economically, says Ms. Rajabi.
“The major breakthrough for the part of research I focused on was the panel that was developed and optimized for the Newfoundland and Labrador population,” she said.
“Discovering the disease-causing mutations, which was done before I started participating in this project, was a major breakthrough of the study and without it my research would have been impossible.”
Huge benefits
The research is the first translational study designed at Memorial that can be used clinically as a diagnostic test.
Health-care providers can use a comprehensive, time-efficient and cost-effective test to identify the underlying genetic cause in those diagnosed with Stargardt disease, says Ms. Rajabi.
“This will hugely benefit the population of Newfoundland and Labrador in terms of being aware of what can genetically cause the disease and if anyone is concerned, it can easily be screened for within the province.”
Ms. Rajabi says her training at Memorial has helped open doors for her career.
Currently, she works as a laboratory scientist at the Centre for Environmental Genomics Applications.
“At this independent research facility, we facilitate biomonitoring and environmental assessment programs using environmental DNA coupled with the latest genomic technologies,” she said.
“I’ve had the opportunity to work on different exciting projects throughout my career and I continue to accept new challenges. I also enjoy working on projects that help me expand my knowledge.”
