معرفی
Fiona McKenzie is a Clinical Senior Lecturer in the Department of Paediatrics at the UWA Medical School, The University of Western Australia. Her work focuses on medical genetics and genomics, particularly in understanding genetic causes of diseases such as skeletal dysplasias, neurodevelopmental disorders, and perinatal conditions. She contributes to UN Sustainable Development Goals related to health and well-being (SDG 3).
Her research emphasizes genomic analysis, clinical guidelines for genetic disorders like achondroplasia, and collaborative studies on genetic mutations affecting development. Recent work includes investigating CAMK2D’s role in neurodevelopment and ADAMTSL2-related skeletal disorders. She has authored over 40 publications with significant citations (h-index 22).
Dr McKenzie’s research integrates clinical and molecular approaches, addressing genetic diagnostics and translational medicine. Her work bridges academic research with practical clinical guidelines, impacting patient care in pediatric genetics.
