Rate My Professor Ian Blair

Professor Ian Blair is a Professor in the Macquarie Medical School, Department of Biomedical Sciences at Macquarie University, and Director of the Motor Neuron Disease Research Centre. He leads the Genetics and Genomics team, which analyzes DNA from patient samples stored in the Neurodegenerative Disease Biobank to identify inherited genes causing or increasing the risk of motor neuron disease (MND). This work enables genetic counsellors in the Multidisciplinary MND Service and Clinic to provide rapid diagnosis for about two-thirds of familial MND cases, facilitating quicker access to clinical trials. In 2008, Blair and collaborators discovered mutations in the TARDBP gene encoding the TDP-43 protein in Australian and worldwide MND patients, establishing TDP-43 as a central player in MND pathology. In 2016, his team identified mutations in the CCNF gene encoding Cyclin F in MND patients, contributing to insights into motor neuron degeneration mechanisms.

Blair's research encompasses disease-gene discovery in familial ALS (FALS), sporadic ALS (SALS), and ALS twins; investigations into RNA-binding proteins such as SFPQ; cryptic relatedness in MND genetics; molecular and pathological bases of ALS; and genetic characterization of genes including ATXN2, TDP-43, and UBQLN2. He serves as Primary Chief Investigator on the Australian Preclinical Research ALS (APRALS) Network (2023–2027) and leads projects funded by FightMND, including the MCR Fellowship for comprehensive disease-gene discovery (2024–2028) and studies on SFPQ in MND (2023–2026). With 134 peer-reviewed articles, key publications include 'Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvement' (Grima et al., 2025, Molecular Neurodegeneration), 'Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model' (Abdeen et al., 2025, Acta Neuropathologica), 'A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia' (Thumbadoo et al., 2025, Neurobiology of Disease), 'Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism' (Hogan et al., 2026, Acta Neuropathologica Communications), and 'TDP-43 mutations causing amyotrophic lateral sclerosis are associated with TDP-43 depletion, accumulation of RBMN2 aggregates and RBMN2 splicing repression' (Moujalled et al., 2017, Human Molecular Genetics). His contributions extend to international efforts like Project MinE and have advanced preclinical models for ALS.