Ian MacDonald

Ian MacDonald

Adjunct Professor

7-030 Katz Building

Academic Degrees and Training

  • BSc: McGill University
  • MSc: McGill University
  • MD, CM: McGill University
  • Fellow, Canadian College of Medical Genetics
  • Fellow, Royal College Physicians and Surgeons, Canada
  • Fellow, Canadian Academy of Health Sciences

Current Research Interests

As a clinician scientist with training in Genetics and Ophthalmology, I am committed to establishing a centre for ocular gene therapy at the University of Alberta that will serve the development of protocols to treat patients with heritable forms of blindness. In collaboration with NightstaRx UK, I am leading an AIHS-CRIO Team and a CIHR Emerging Team on Ocular Gene Therapy that will engage in a Phase I trial of AAV2-mediated gene replacement in research subjects affected by choroideremia.

Positions available

Our laboratory welcomes students with a background in genetics or visual sciences to apply for entry into graduate studies (MSc level). Positions are also available for post-doctoral fellows interested in gene therapy as well as clinical fellows.


  • Gene replacement therapy in choroideremia
  • Investigation of the molecular genetic basis of heritable ocular disorders


Sources of Funding

CIHR, AIHS-CRIO, FFB Canada, Choroideremia Research Foundation Canada Inc.

Major scientific accomplishments

  • Mapping the choroideremia (CHM) gene. My laboratory is internationally recognized as a reference laboratory for this sex-linked retinopathy. Further, we have expanded our understanding of the pathogenesis of choroideremia by demonstrating disordered intracellular trafficking in extraocular tissues.
  • Mapping and cloning of the ELOVL4 gene.  Mutations in this gene result in a dominant form of macular dystrophy, called Stargardt-like macular dystrophy. The gene has been linked to the synthesis of very long chain polyunsaturated fatty acids (PUFAs). As a result of this finding, our group has devoted considerable effort to study the effect of PUFAs on retinal function in animal models and human subjects. 

Selected Publications

Furgoch MJ, Mewes-Arès J, Radziwon A, MacDonald IM. Molecular genetic diagnostic techniques in choroideremia. Mol Vis. 2014; 20:535-44. eCollection 2014.

Kalatzis V(1), Hamel CP, MacDonald IM; First International Choroideremia Research Symposium. Choroideremia: towards a therapy. Am J Ophthalmol. 2013 ;156:433-7


Lab Personnel

Technicians: Alina Radziwon, Chris St. Laurent

Clinical Trial Co-ordinator: Stephanie Chan

Research Associate: Lance Doucette

Medical Genetics Students

Geoffrey Casey

Nicole Noel