MacDonald Lab

IM

Ian 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:

Kalatzis V, Hamel CP and MacDonald IM. Choroideremia: towards a therapy. Am J Ophthalmol. 2013;156(3):433-7

Gordiyenko NV, Fariss RN, Zhi C and MacDonald IM. Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2010;51(2):1143-50

 

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Alina Radziwon BSc is a Research Technician in the Department of Ophthalmology and Visual Sciences at the University of Alberta. Specializing in immunology and infection, she obtained her Bachelor of Science degree at the University of Alberta. Previously, Alina has done an Industrial Internship in the bloodborne pathogens unit of the National Microbiology Laboratory in Manitoba, where she researched pathogenesis of hepatitis B viruses. Prior to working in the MacDonald laboratory, she researched DNA polymerases in the Biological Sciences department at the University of Alberta.

Ms. Alina Radziwon is currently researching occult macular dystrophy, the diagnostics of genetic retinal disease (specifically Choroideremia), and a drusen model in cell culture. In the lab, she performs Immunoblots, Exomic Sequencing, Multiplex ligation-dependent probe amplification (MLPA), RNA analysis and creates cell lines.

References:

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

Zhang L, Radziwon A and Reha-Krantz LJ. Targeted mutagenesis of a specific gene in yeast. Methods Mol Biol. 2014;1163:109-29

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SCStephanie Chan 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. In addition, Stephanie took the Study Coordinator Training Program offered by the Northern Alberta Clinical Trials and Research Centre.

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 and future treatment plans. Ms. Stephanie Chan maintains regulatory paperwork, schedules patient appointments and manages the daily issues relating to the study.

References:

Dimopoulos IS, Chan S, MacLaren RE, MacDonald IM. Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opin Orphan Drugs. 2015;3(7):787-98.

MacDonald IM, Hume S, Chan S, et al. Choroideremia. 2003 Feb 21 [Updated 2015 Feb 26]. In: Pagon RA, Adam MP, Amemiya A, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1337/.

 

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AVAmir Khashayar Varkouhi MD PhD is a staff scientist in gene therapy in the Department of Ophthalmology and Visual Sciences at the University of Alberta. He received his MD from Lorestan University of Medical Sciences and his PhD in Gene Therapy & Nanomedicine from University of Utrecht, The Netherlands. Dr. Varkouhi has had previous research experience with gene therapy and stem cell from the Department of Therapeutic Gene Modulation at the University of Groningen, the Department of Hematology at the Erasmus University Medical Centre and the University Health Network (UHN) at the University of Toronto.

Dr. Varkouhi’s research interests are in gene therapy, cell therapy, viral and nonviral delivery systems. He designs gene therapy approaches for the treatment of specific diseases, using viral and non-viral vectors loaded with therapeutic genes. His current projects include developing adeno-associated virus (AAV) and Lentivirus-based gene therapy for degenerative eye diseases including Choroideremia and Stargardt-like Disease (STGD3).

References:

Varkouhi AK, Lammers T, Schiffelers RM, van Steenbergen MJ, Hennink WE and Storm G. Gene silencing activity of siRNA polyplexes based on biodegradable polymers. Eur J Pharm Biopharm. 2011;(3):450-7.

Varkouhi AK, Scholte M, Storm G and Haisma HJ. Endosomal escape pathways for delivery of biologicals. J Control Release. 2011;151(3):220-8.

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JDJohn Dimopoulos MD MSc is a clinical research fellow in the Department of Ophthalmology and Visual Sciences at the University of Alberta. Dr. Dimopoulos holds an MD from the National and Kapodistrian University of Athens as well as a Master of Science Degree in Ophthalmology and Visual Sciences from the University of Alberta. He has been an active member of the Association for research in Vision and Ophthalmology (ARVO) and the International Society for Clinical Electrophysiology of Vision (ISCEV) since 2011.

During Dr. Dimopoulos’ graduate studies in the department, he focused extensively on phenotyping age-related macular degeneration (AMD) using electrophysiology (ERG), as well as developing personalized predictive tools that integrate metabolomics and genetics to better predict risk and response to therapy for AMD. Based on this experience, he is currently involved in outcome measure assessment for the ongoing AAV2-mediated gene therapy trial for Choroideremia. For that purpose, Dr. Dimopoulos relies on various clinical research tools to assess retinal function and structure in CHM, such as microperimetry, full-field stimulus threshold (FST), ERG, autofluorescence and optical coherence tomography (OCT) imaging. He performs all the necessary components in baseline and follow up tests in the clinical trial study to evaluate the progress of the treatment.

References:

Dimopoulos IS, Chan S, MacLaren RE and MacDonald IM. Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opin Orphan Drugs. 2015;3(7):787–798.

Dimopoulos IS, Tennant M, Johnson A, Fisher S, Freund PR and Sauvé Y. Subjects with unilateral neovascular AMD have bilateral delays in rod-mediated phototransduction activation kinetics and in dark adaptation recovery. Invest Ophthalmol Vis Sci. 2013;54(8):5186-95.

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CSLChris St Laurent BSc is a Research Technician in the Department of Ophthalmology 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:

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

Moon TC, St Laurent CD, Morris KE, Marcet C, Yoshimura T, Sekar Y and Befus AD. Advances in mast cell biology: new understanding of heterogeneity and function. Mucosal Immunol. 2010;3(2):111-28.