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About Aideen
Associate Professor Aideen McInerney-Leo is a clinician-academic trained as a genetic counsellor whose patient interactions have shaped her research on integrating genomics into clinical care. She holds a Doctor of Philosophy from The University of Queensland (2017), where her thesis utilized exome sequencing to identify novel genes and genetic modifiers in rare skeletal disorders such as short-rib polydactyly, Jeune syndrome, and spondylocostal dysostosis. She also earned a Masters (Coursework) of Science from The University of Manchester. At UQ, she serves as Associate Professor and Deputy Associate Dean (Research) for the Faculty of Health, Medicine and Behavioural Sciences, Principal Research Fellow at the Frazer Institute, and leader of the Integrating Genomics into Medicine group. She is affiliated with the Dermatology Research Centre and available for PhD supervision.
Her research program features three primary themes: evaluating psychosocial impacts of genetic conditions and testing, genetics education preferences for patients and healthcare providers, and next-generation sequencing to enhance diagnostic yield for rare disorders. Current projects include mainstreaming genetic testing for melanoma into dermatology practice, exploring genetic fatalism in high-risk individuals' sun behaviors, and assessing referral pathways to genetic services. McInerney-Leo was awarded an NHMRC Early Career Fellowship (2019-2022). Select key publications include "Short-rib polydactyly and Jeune syndromes caused by WDR60 mutations" (American Journal of Human Genetics, 2013), "Autosomal dominant spondylocostal dysostosis caused by in-frame TBX6 deletions" (Human Molecular Genetics, 2013), "Community concerns about genetic discrimination in life insurance" (European Journal of Human Genetics, 2023), "How has the rise of direct-to-consumer genetic testing impacted genetic counselling practice? A scoping review" (Journal of Genetic Counseling, 2026), and "Utility of genomic testing in children, adolescents, and young adults with cancer" (2025). Her work influences genomic policy and clinical implementation.
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