MacDonald Lab

IMIan M. MacDonald MSc MD CM is a Professor in the Department of Ophthalmology and Visual Sciences, University of Alberta and recently stepped down after four terms as its Chair. From 2007-2008, he served as Branch Chief of Ophthalmic Genetics at the National Eye Institute of the NIH in Bethesda, MD. A McGill graduate in Medicine, Dr. MacDonald completed Ophthalmology residency training at the University of Ottawa and Clinical Genetics fellowship training at the University of Ottawa, Queen’s University, Kingston and the Hospital for Sick Children, Toronto. He was a Career Scientist of the Ontario Ministry of Health at the University of Ottawa prior to moving to Edmonton in 1992.

His main research interest is inherited retinal disorders, in particular, maculopathies and choroideremia. In 2009, in recognition of his work in Canada to foster the development of academic ophthalmology, he was elected to as a Fellow of the Canadian Academy of Health Sciences.

Research Support: Alberta Innovates-Health Solutions; Choroideremia Research Foundation, Canada Inc.; Foundation Fighting Blindness, Canada; Canadian Institutes for Health Research, Canadian Foundation for Innovation

References:
Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, MacDonald IM, et al. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia. Am J Ophthalmol.2017 Jul;179:110-117.

Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, MacDonald IM, et al. Single-base substitutions in the CHM promoter as a cause of choroideremia. Hum Mutat. 2017 Jun;38(6):704-715.

Dimopoulos I, Radziwon A, St Laurent CD, MacDonald I. Choroideremia. Curr Opin Ophthalmol. 2017 May 17.

Dimopoulos I, Tseng C, MacDonald I. Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond. Invest Ophthalmol Vis Sci.2016 Aug 1;57(10):4151-61.

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Matthew Benson MD is a graduate student and resident in the Department of Ophthalmology and Visual Sciences and he is completing a Master of Science degree in the MacDonald lab. He received his Medical Degree from the University of Alberta in 2015.

Matthew is particularly interested in inherited retinal dystrophies and he is currently investigating the mechanism of disease in a patient with a peroxisomal biogenesis disorder. He is the 2019 recipient of the Foundation Fighting Blindness Canada Clinician-Scientist Emerging Leader Award.

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Geoff Casey BSc BSc is currently completing a Master of Science degree in Medical Genetics in the MacDonald lab. He has received Bachelor of Science degrees in Electrical Engineering/Nanotechnology and Molecular Biology from the University of Alberta.

Geoff is contributing to the development of novel viral vectors for the treatment of genetic ocular disorders. He is performing preclinical characterizations of novel vectors with a focus on evaluating the potential of the vectors to produce an immune response in the eye.

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Lance Doucette PhD is a Research Associate in the Department of Ophthalmology and Visual Sciences, University of Alberta under the supervision of Dr. Ian M. MacDonald since April of 2017. He completed his PhD in Human Genetics at Memorial University in 2012 where he studied the genetic cause of inherited blindness in the Newfoundland population.

In 2013, he moved to the University of Alberta as a Postdoctoral Fellow in the Department of Medical Genetics under the supervision of Dr. Michael Walter where he studied the role of a developmental gene, FOXC1 and its role in the molecular biology of glaucoma.
In Dr. MacDonald’s Laboratory, Dr. Doucette’s interest is understanding the genetics and molecular biology behind inherited ocular disorders, particularly macular and retinal dystrophies. His expertise is in identifying disease genes through next generation sequencing, and using molecular biology techniques to understand how these genes are involved in eye disease.

References:
Rasnitsyn A, Doucette L, Seifi M, Footz T, Raymond V, Walter MA. FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. PLoS One.2017 Jun 2;12(6):e0178518.

Doucette LP, Rasnitsyn A, Seifi M, Walter MA. The interactions of genes, age, and environment in glaucoma pathogenesis. Surv Ophthalmol.2015 Jul-Aug;60(4):310-26.

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Headshot 2017

Stephanie Hoang MSc CGC CCGC is the study coordinator and genetic counsellor for the choroideremia gene therapy clinical trial in the Department of Ophthalmology and Visual Sciences at the University of Alberta. She obtained her Bachelor of Science Degree in Molecular Biology and Genetics at the University of Alberta, and a Master of Science Degree in Genetic Counselling from the University of British Columbia.

Her expertise is in the field of ocular genetics. As a study coordinator, she ensures that patients participating in clinical trials are well informed throughout the study. In addition, she discusses the options of genetic testing, future treatment plans and current clinical trials. Stephanie maintains regulatory paperwork, schedules patient appointments and manages the daily issues relating to the study.

References:
Chan SC, MacDonald IM. Resolving Genetic Test Results for the Patient and the Clinician. Am J Ophthalmol.2016 Oct;170:xiv-xvi.

Chan SC, Rayat J, Sauve Y, MacDonald IM. Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. Can J Ophthalmol. 2016 Jun;51(3):e85-8.

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CSLChris St Laurent BSc is a research technician in the Department of Ophthalmology and Visual Sciences at the University of Alberta. Chris received his Bachelor of Science Degree in Molecular Genetics at the University of Alberta. Before working in our department, he worked in the Pulmonary Research Group in the Department of Medicine for 13 years; researching mast cell-mediated allergy and inflammation and developing anti-inflammatory therapeutics.

He currently works in the laboratory developing vectors for future gene therapy trials for various eye diseases and conditions. Chris turns plasmids into harmless viral vectors that are later used to carry working genes to replace a faulty gene that may be present in a variety of eye diseases. After creating the viral vectors, they are tested in preclinical studies (in vitro and in vivo) in preparation for  potential clinical trials.

References:
Dimopoulos I, Radziwon A, St Laurent CD, MacDonald I. Choroideremia. Curr Opin Ophthalmol. 2017 May 17.

St Laurent CD, St Laurent KE, Mathison RD, Befus AD. Calcium-binding protein, spermatid-specific 1 is expressed in human salivary glands and contains an anti-inflammatory motif. Am J Physiol Regul Integr Comp Physiol.2015 Apr 1;308(7):R569-75

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Manlong

Manlong Xu MD PhD is a clinical research fellow in the Department of Ophthalmology and Visual Sciences at the University of Alberta under the supervision of Dr. Ian M. MacDonald since December 2015. She completed her PhD in Vision Science and Biology (joint degree) at University of Waterloo in 2015, where she studied the individual and combined toxicity of UV radiation and chemicals on the eye.

Previously, Dr. Xu was a physician specialized in internal medicine (with special training in rheumatology) in China, where she did clinical studies on ankylosing spondylitis and systemic lupus erythematosus (SLE).

 In Dr. MacDonald’s laboratory, Dr. Xu engages in clinical research on the natural history and gene therapy for retinal degeneration (especially choroideremia). Her research interest is visual field progression in inherited eye disorders.

References:
Xu, M., McCanna, D.J. & Sivak, J.G. 2015, “Use of the Viability Reagent PrestoBlue in Comparison with Alamarblue and MTT to Assess the Viability of Human Corneal Epithelial Cells”, Journal of Pharmacological and Toxicological Methods, vol.71, pp. 1-7.

Hu, Z.,Xu, M.,Wang, Q., Qi, J., Lv, Q., Gu, J.. 2015, “Colour Doppler ultrasonography can be used to detect the changes of sacroiliitis and peripheral enthesitis in patients with ankylosing spondylitis during adalimumab treatment”, Clinical and experimental rheumatology, 2015 Nov-Dec;33(6):844-50.

Xu, M., Sivak, J.G. & McCanna, D.J. 2013, “Comparison of the Effects of Ophthalmic Solutions on Human Corneal Epithelial Cells Using Fluorescent Dyes”,Journal of Ocular Pharmacology and Therapeutics, vol. 29, no. 9, pp. 794-802.

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Yi (Fay) Zhai, MD, PhD is a clinical research fellow in the Department of Ophthalmology and Visual Sciences at the University of Alberta under the supervision of Dr. Ian M. MacDonald. After receiving her medical degree from Zhejiang University, she passed the medical licensing examination and became an ophthalmologist in China. In 2016, she completed her PhD in Medicine with an ophthalmic specialty at Zhejiang University.

Dr. Zhai has a strong clinical research interest in inherited eye disorders. Her previous research projects include congenital cataract, age-related macular degeneration and hereditary retinal degeneration. In Dr. MacDonald’s laboratory, Dr. Zhai focuses on the clinical research and genetic therapy of retinal degeneration (especially choroideremia).

References:
Zhu S, Xi XB, Duan TL, Zhai Y, Li J, Yan YB, & Yao K. The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure. Int J Biol Macromol. 2018 May 30; 117: 807-814.

Zhai Y, Li J, Yu W, Zhu S, Yu Y, Wu M, Sun G, Gong X, & Yao K. Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. Sci Rep. 2017 Apr 27;7(1):1219.

Chen Z, Zhai Y (co-first author), Zhang W, Teng Y, & Yao K. Single Nucleotide Polymorphisms of the Sirtuin 1 (SIRT1) Gene are Associated with age-Related Macular Degeneration in Chinese Han Individuals: A Case–Control Pilot Study. Medicine (Baltimore). 2015 Dec; 94(49): e2238.

Zhai Y, Wang W, Zhu Y, Li J, Yu Y, Lai K, & Yao K. A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. Int J Ophthalmol. 2015 8(5):855-9.

Zhai Y, Li J, Zhu Y, Xia Y, Wang W, Yu Y, & Yao K. A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family. Int J Med Sci. 2014. 11(2):158-63.