May 8, 2024

Where are they now: Dr. Ian MacDonald — clinical genetics pioneer and patient champion

Ian MacDonald with Eye Machine

Dr. Ian MacDonald’s illustrious career began when, as a trainee in clinical genetics he had the opportunity to work on a project funded by Fighting Blindness Canada (FBC).

Choroideremia is an inherited retinal disease (IRD) that develops in the late teens and causes severe vision loss by mid-life. It is an X-linked condition, meaning that it primarily affects men. Choroideremia was one of the first IRDs to be studied by FBC, beginning with funding to Dr. Clem McCulloch in the 1970s. A FBC grant also helped launch the beginning of Dr. Ian MacDonald’s career. As a trainee in clinical genetics at the University of Ottawa, he brought a new genetic focus to the field of IRD research.

Dr. MacDonald’s first grant from FBC in 1985 helped identify where the choroideremia gene was located on the X chromosome. As Dr. MacDonald said, “That unquestionably started my career and passion for vision research on heritable ocular traits.”

This was the early days of genetic research, and when the exact gene that causes choroideremia was identified by a UK scientist, Dr. Miguel Seabra, the two men collaborated to create a diagnostic test that became the global standard in identifying the disease.

In the years since, Dr. MacDonald has become an international expert on choroideremia and is currently a Professor Emeritus at the University of Alberta. In 2015 he launched the first Canadian clinical trial for an IRD gene therapy with funding from FBC. He said this was one of the highlights of his career, in addition to being part of the team that brought Luxturna, the first approved gene therapy for an IRD, to patients in Western Canada.

Dr. MacDonald is driven to continue research and to be a strong advocate for his patients with the hope that gene discovery and clinical trials will continue to bring treatments to patients and prevent vision loss.

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