Associate Professor Ian Blair

Associate Professor Ian BlairAssociate Professor Ian Blair

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

Contact Details

The Australian School of Advanced Medicine
2 Technology Place, Macquarie University NSW 2109 Australia
Tel: +61 (0)2 9850 2725
Fax: +61 (0)2 9850 2701


Professional Overview


Areas of Research Interest

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.

Fellowships and Awards

NHMRC (Peter Doherty) postdoctoral research fellow (2001-2004)
NARSAD Young Investigator Award (2004-2006)
Bill Gole MND Research Fellow (2006-2007)
NHMRC Biomedical Career Development Award, CDA-Level 2 (2008-2012)

Selected 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
  • 2009-2011. NHMRC Project Grant (570957). Ian P Blair, Garth A Nicholson, Simon H Hawke. Title: The role of mutant TDP-43 in ALS. $455,375
  • 2007-2009. Amyotrophic Lateral Sclerosis Association (ALSA) USA Research Grant. Garth A Nicholson, Ian P Blair. Title: Identification of a novel gene causing motor neuron degeneration. US$220,405
  • 2006-2008. NHMRC Project Grant (376011). Peter R Schofield, Ian P Blair . Title: The biological role of the cadherin gene FAT in bipolar disorder susceptibility. $374,250

Selected Publications

Fullerton JM, Liu Z, Badenhop RF, Scimone A, Blair IP, Van Herten M, Donald JA, Mitchell PB, Schofield PR. Genome screen of 15 Australian bipolar affective disorder pedigrees supports previously identified loci for bipolar susceptibility genes. Psychiatric Genetics 18:156-61 (2008)

Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA. CHMP2B mutations are not a common cause of familial or sporadic ALS. Journal of Neurology, Neurosurgery, and Psychiatry 79:849-50 (2008)

Sreedharan J, Blair IP (equal first author), Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson GA, Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668-72 (2008)

McAuley EZ, Blair IP, Liu Z, Fullerton JM, Scimone A, Van Herten M, Evans MR, Kirkby KC, Donald JA, Mitchell PB, Schofield PR. A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q. Molecular Psychiatry 14:492-500 (2009)

McAuley EZ, Fullerton JM, Blair IP, Donald JA, Mitchell PB, Schofield PR. Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort. Psychiatric Genetics 19:244-252 (2009)

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP. A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. Journal of Neurology, Neurosurgery, and Psychiatry 80:1286-1288 (2009)

Vance C, Rogelj B Hortobágyi T, De Vos KJ Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo J-M, Miller CC, Shaw CE. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208-1211 (2009)

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. Journal of Neurology, Neurosurgery, and Psychiatry 81:639-45 (2010)

Luty AA, Kwok JBJ, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, Sobow T, Tchorzewska J, Maruszak A, Barcikowska M, Panegyres PK, Zekanowski C, Brooks WS, Williams KL, Blair IP, Mather KA, Sachdev PS, Halliday GM and Schofield PR. Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Annals of Neurology 68: 639-649 (2010)

Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano RE, Liu XA, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim H-J, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford N, Dickson D, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG,. Lee VMY, Trojanowski JQ, Ludolph AC, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin VM, Rademakers R, Mourelatos Z, Gitler AD. Feature Article: From the Cover: A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences USA 108: 20881-90 (2011)

Solski JA, Williams KL, Yang S, Nicholson GA, Blair IP. Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiology of Aging 33: 210.e9-210.e10 (2012)

Williams KL, Solski JA, Nicholson GA, Blair IP. Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 33: 1488.e15-1488.e16 (2012)

Solski JA, Yang S, Nicholson GA, Luquin N, Williams KL, Fernando R, Pamphlett R, Blair IP. A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis  3:465-70 (2012)

Farg MA, Soo KY, Walker AK, Orian JM, Pham H, Horne MK, Warraich ST, Williams KL, Blair IP, Atkin JD. Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulphide isomerase. Neurobiology of Aging 33:2855-68 (2012)

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)

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)

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)

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)

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)