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Professor Mac Gardner, Adjunct Professor in the Department of Paediatrics and Child Health within the Faculty of Medicine at the University of Otago, is a distinguished clinical geneticist with a career spanning over five decades. He graduated with his medical degree from the University of Otago in 1968, followed by junior doctor positions at Dunedin and Auckland Hospitals. He pursued advanced training, earning a Master's degree at the University of Edinburgh and completing specialist training in clinical genetics at prestigious institutions including the Institute of Child Health in London, Hôpital des Enfants-Malades in Paris, and the Hospital for Sick Children in Toronto. Gardner practiced as a clinical geneticist in Dunedin for 16 years, establishing a strong foundation in paediatric genetics. In 1993, he relocated to Melbourne, Australia, where he joined the Victorian Clinical Genetics Services at the Murdoch Children’s Research Institute. There, he expanded services into familial cancer genetics and neurogenetics, and collaborated with Elsdon Storey to establish neurogenetic clinics at Monash University. Returning to Dunedin in 2008, he was appointed Honorary Professor in the Laboratory for Genomic Medicine at the University of Otago.
Gardner's research specializations encompass chromosome abnormalities, genetic counselling, and hereditary neurological disorders. He made significant contributions by recognizing and characterizing five new spinocerebellar ataxia syndromes (SCA types 15, 20, 25, and 30), elucidating genes involved in tuberous sclerosis complex, and exploring pathological mechanisms in Wilms tumour. His most influential work is as co-author of all six editions of the authoritative textbook Chromosome Abnormalities and Genetic Counselling, initially with Grant Sutherland, later with Lisa Shaffer for the fourth edition, and David Amor for the fifth and sixth editions published by Oxford University Press. The book, which defines clinical chromosomology and emphasizes holistic family counselling, received a Highly Commended award in the British Medical Association book awards in 2019. Other notable publications include 'A CCG expansion in ABCD3 causes oculopharyngodistal myopathy' (2024) and 'Chromosomes and Clinical Anatomy' (2016). His work has profoundly impacted clinical genetics, providing foundational resources for practitioners worldwide.

Photo by Osarugue Igbinoba on Unsplash
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