Clinical Genetics Pioneer And Patient Champion

Dr. Ian MacDonald

Dr. Ian MacDonald has been featured in Fighting Blindness Canada in the article “Where are they now: Dr. Ian MacDonald — clinical genetics pioneer and patient champion - Fighting Blindness Canada”

His distinguished journey commenced during his tenure as a trainee in clinical genetics, where he seized the opportunity to contribute to a project backed by Fighting Blindness Canada (FBC).

Choroideremia, an inherited retinal disease (IRD) manifesting in late adolescence and causing profound vision impairment by mid-life, predominantly afflicts men due to its X-linked nature. FBC embarked on studying Choroideremia in the 1970s under the auspices of Dr. Clem McCulloch. Dr. Ian MacDonald's career found its inception with FBC's support while he was a trainee in clinical genetics at the University of Ottawa, infusing a fresh genetic perspective into IRD research.

Dr. MacDonald's inaugural grant from FBC in 1985 facilitated the localization of the choroideremia gene on the X chromosome. Reflecting on this, Dr. MacDonald remarked, "That unquestionably ignited my career and fervor for researching heritable ocular traits."

During the nascent stages of genetic exploration, when a UK scientist, Dr. Miguel Seabra, pinpointed the precise gene responsible for choroideremia, Dr. MacDonald and he collaborated to develop a diagnostic test that attained global acclaim as the standard for disease identification.

In the intervening years, Dr. MacDonald has ascended to international acclaim as a choroideremia expert, currently serving as a Professor Emeritus at the University of Alberta. In 2015, with FBC funding, he initiated the inaugural Canadian clinical trial for an IRD gene therapy, marking a pinnacle in his career. Additionally, he played a pivotal role in introducing Luxturna, the premier approved gene therapy for an IRD, to patients in Western Canada.

Driven by an unwavering commitment to research and advocacy for his patients, Dr. MacDonald remains hopeful that ongoing gene discovery and clinical trials will usher in novel treatments and mitigate the burden of vision loss.