Rate My Professor Ben Halliday

Ben Halliday is a Research Fellow in the Laboratory for Genomic Medicine within the Clinical Genetics Group, Department of Paediatrics and Child Health, Dunedin School of Medicine, Faculty of Medicine at the University of Otago. He completed his BSc(Hons) in 2016 at the University of Otago, where his honours project explored the genetic drivers of childhood kidney cancers, igniting his passion for bioinformatics and the application of genome sequencing to rare disease genetics. In 2017, he began his PhD in the same laboratory, focusing on the genomic investigation of patients with brain malformations. This work provided diagnostic answers for affected families and enhanced understanding of genetic pathways essential for brain development. As lead author, he contributed to a landmark study identifying germline mutations and somatic inactivation of TRIM28 as the cause of a distinctive subtype of Wilms tumour, published in PLoS Genetics in 2018. This discovery, part of an international collaboration, highlighted a treatable form of the cancer that could often be managed with surgery alone, avoiding chemotherapy's long-term effects, and expanded knowledge of familial Wilms tumour causes.

Currently, as a postdoctoral researcher, Halliday's primary project assesses the suitability of first-tier genomic diagnostic tools in New Zealand, particularly investigating their reduced performance in Māori and Pacific peoples to promote equitable clinical outcomes. He contributes to multiple ongoing projects in paediatric genetics, including neurodevelopmental disorders and malformations. His research outputs include high-impact publications such as 'The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis' (Human Mutation, 2020), 'Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism' (American Journal of Human Genetics, 2021), 'Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype' (European Journal of Human Genetics, 2020), and 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles' (Human Genetics and Genomics Advances, 2024). Halliday has presented seminars, chaired sessions on genomic data ethics and storage, and participated in initiatives like Genomics Aotearoa and the He Kākano Māori variome resource, advancing genomic medicine translation in Aotearoa New Zealand.