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.
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.
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
Technicians: Alina Radziwon, Chris St. Laurent
Clinical Trial Co-ordinator: Stephanie Chan
Research Associate: Lance Doucette
Medical Genetics Students