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In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Throughout history, pandemics of viral infections such as HIV, Ebola and Influenza have disrupted health care systems, including the prevention and control of endemic diseases. Such disruption has resulted in an increased burden of endemic diseases in post-pandemic periods.
Enteric fever prevention requires significant long term investment in provision of clean water and sanitation; vaccination offers medium term control.
Honorary Research Fellow
Associate Professor, Honorary Research Fellow
Head, Nutrition in Early Life
Japanese Encephalitis virus is a mosquito-borne virus that is typically only found in south-east Asia.
The Deborah Lehmann Research Award in Paediatric Infectious Disease Research is a funding mechanism to support the training and development of early- to mid-career researchers (EMCR) or Higher Degree by Research (HDR) students who are nationals from the Pacific Region working in or outside their hom
Engaging the community in COVID-19 rapid research
Honorary Team Member - Research Nurse