Assistant Professor Rachael Duff BSc (Hons), PhD


Team leader - bioinformatics, neurogenetic diseases laboratoryAssistant Professor Rachael Duff
E:   rachael.duff@perkins.uwa.edu.au
T:   +61 8 6151 0700

Rachael  completed her PhD at UWA in 2008 under the supervision of Professors Nigel Laing, Steve Wilton and Frank Mastaglia.

Rachael's PhD thesis was an investigation of the genetic causes of several neurodegenerative disorders. The work resulted, amongst other findings, in the successful identification of a gene mutation responsible for a novel form of distal myopathy (muscle wasting disorder).

Between 1999 and 2009, Rachael worked as a research assistant and then a research officer at the Neurodegenerative Disorders Centre high throughput genetic screening facility, located at the Australian Neuromuscular Research Institute. In 2009, Rachael relocated to the United Kingdom to complete a post-doctoral position at the National Heart and Lung Institute (NHLI), Imperial College, London, working with Professors Bill Cookson and Miriam Moffatt. Projects involved investigating the role of microbial flora on the development and progression of respiratory conditions.

Since returning to Nigel Laing's Laboratory in October 2010, Rachael has been awarded a three year Bill Gole postdoctoral fellowship from the Motor Neurone Disease Research Institute of Australia. The fellowship project involves the use of next generation sequencing technologies and bioinformatics to identify disease-causing genes in motor neurone disease patients.

Research overview

  • The genetics of neuromuscular disorders
  • Bioinformatics of next generation sequencing

Research projects

  • Identification of disease genes  and modifying factors for Motor Neuron Disease and other related neuromuscular conditions
  • Investigation of preconception carrier screening for genetic disorders

Selected publications

  1. Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscul Disord. 2013;23(2):165-169. [NCBI PubMed Entry]
  2. Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PF, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. 2011. Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy. American Journal of Human Genetics 88(6):729-40. [NCBI PubMed Entry]
  3. Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. 2010. Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores. American Journal of Human Genetics 87(6):842-7. [NCBI PubMed Entry]
  4. Webb BT, van den Oord E, Akkari A, Wilton S, Ly T, Duff R, Barnes KC, Carlsen K, Gerritsen J, Lenney W, Silverman M, Sly P, Sundy J, Tsanakas J, von Berg A, Whyte M, Blumenthal M, Vestbo J, Middleton L, Helms PJ, Anderson WH, Pillai SG. 2007. Quantitative linkage genome scan for atopy in a large collection of Caucasian families. Human Genetics 121(1):83-92. [NCBI PubMed Entry]
  5. Williams DR, Reardon K, Roberts L, Dennet X, Duff R, Laing NG, Byrne E. 2005. A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles. Neurology 64(7):1245-54. [NCBI PubMed Entry]
  6. Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH. 2005. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 64(3):527-9. [NCBI PubMed Entry]
  7. Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. 2004. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). American Journal of Human Genetics 75(4):703-8. [NCBI PubMed Entry]
  8. Fletcher S, Ly T, Duff RM, McC Howell J, Wilton SD. Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy. 2001. Neuromuscular Disorders 11(3):239-43. [NCBI PubMed Entry]
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