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Ian Blair

Associate Professor, Neurobiology

Biomedical Sciences, Faculty of Medicine and Health Sciences

Contact Details

Tel: (02) 9850 2725


2 Technology Place, Macquarie University NSW 2109 Australia

Associate Professor Blair's research career has focused on determining the molecular and cellular basis of a variety of neurological disorders including motor neuron disease (amyotrophic lateral sclerosis, ALS/MND), hereditary sensory neuropathy (HSN), Charcot Marie Tooth disorder (CMT), the spinal cerebellar ataxias (SCA), Joubert syndrome, and bipolar disorder. At Macquarie University, Associate Professor Blair conceives, instigates and leads studies to unravel the molecular genetic and cellular basis of ALS/MND. In the past 5 years, his group has played a key role in several ALS gene discoveries worldwide. These discoveries have opened new chapters in ALS/MND research and produced publications in high-impact journals. His work has also led to the development of effective diagnostic tests for ALS, CMT1A and HSN1.

Before his recent appointment at Macquarie University, Associate Professor Blair directed an ALS/MND research group at the ANZAC Research Institute/University of Sydney. Prior to this he was a senior research officer at the Garvan Institute of Medical Research, where he investigated the molecular basis of bipolar disorder. At the Garvan he held a NHMRC Peter Doherty postdoctoral research fellowship and a NARSAD (National Alliance for Research on Schizophrenia and Depression) Young Investigator Award. He also previously held a senior postdoctoral position at the University of Washington School of Medicine, where he undertook a positional cloning project to identify the molecular basis of juvenile ALS (ALS4). He completed his PhD in 1999 at the University of Sydney, which was based upon genetic studies and positional cloning to identify the gene responsible for the peripheral neuropathy HSN. He was supported during his PhD by a NHMRC Dora Lush biomedical postgraduate research scholarship. During his PhD he also received the ANZAC Medical Research Foundation new investigator award.


BSc (Hons) (Macq), MIP (UTS), PhD (Syd)

Select Publications 

  1. Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim H-J, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcon D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VMY, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Human Molecular Genetics 21:2899-911 (2012)
  2. Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiology of Aging 33:2527.e3-2527.e10 (2012)
  3. Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in Amyotrophic Lateral Sclerosis. Human Molecular Genetics 22:717-28 (2012)
  4. Dobson-Stone C, Luty AA, Thompson EM, Blumbergs P, Brooks WS, Short CL, Field CD, Panegyres PK, Hecker J, Solski JA, Blair IP, Fullerton JM, Halliday GM, Schofield PR, Kwok JBJ. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: Genetic, clinical and neuropathological analysis. Acta Neuropathologica 125:523-33 (2013)
  5. Williams KL, Fifita JA, Vucic S, Durnall JC, Kiernan MC, Blair IP*, Nicholson GA* (*equal senior authors). Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery, and Psychiatry Mar 5. [Epub ahead of print] (2013)

Recent Grants

  • 2013-2016. MND Australia Leadership Grant. Title: Investigating the pathogenic basis of familial ALS. $600,000
  • 2012-2014. NHMRC Project Grant (1034816). Nicholas Cole, Garth Nicholson, Ian P Blair, Angela Laird. Title: Investigating the pathogenesis of motor neuron disease using zebra fish models. $419,925
  • 2011-2013. NHMRC Project Grant (1004670). Ian P Blair, Garth A Nicholson. Title: Investigating the genetic basis of ALS. $487,524
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