Associate Professor Kristen Nowak BSc (Hons), PhD Kristen Nowak

Team Leader - Animal Models & Therapies, Neurogenetic Diseases

Neurogenetic Diseases Laboratory
Phone: +61 8 6151 0740


Associate Professor Kristen Nowak completed a Bachelor of Science (Biotechnology) with Honours in Molecular Biology at Murdoch University. She worked as a Research Assistant in Winthrop Professor Nigel Laing’s Laboratory at the University of Western Australia, before completing her PhD studies investigating the genetics and pathobiology of floppy baby syndrome and other muscle diseases. During this period she notably discovered the first mutations in the skeletal muscle actin gene (ACTA1) as causes of multiple, mostly devastating human skeletal muscle diseases (Nature Genetics, 1999).

As part of her NHMRC CJ Martin Fellowship, Kristen spent two years in Professor Dame Kay Davies’ Laboratory at the University of Oxford. It was here that she created and began characterising mouse models of skeletal muscle actin disease.  These have now successfully been used to evaluate potential therapeutic approaches and treatments for congenital myopathies.

Currently, Kristen is an Australian Research Council Future Fellow, and Leader of the Animal Models and Therapies Team within the Laboratory for Neurogenetic Diseases headed by Winthrop Professor Nigel Laing. She is also actively pursuing the genetics and pathobiology of neurogenetic diseases.

Kristen is an active member of various committees and was on the Board of Directors for the Australian Society for Medical Research for 6 years (5 of those as Executive Director), during which time she was ASMR Medical Research Week® Convenor, Media Convenor, Career Development Convenor and National Scientific Conference Convenor amongst other roles. She was also a Tall Poppy Ambassador for WA. Kristen is passionate about communicating science and medical research to patient groups as well as the general community, especially school students.

Research overview

  • Genetic causes of neurogenetic diseases
  • Therapeutic approaches for neurogenetic diseases
  • Animal models of neurogenetic diseases
  • Prevention of neurogenetic diseases

Research projects

  • Evaluation of multiple therapeutic approaches for skeletal muscle actin diseases, including nemaline myopathy
  • Gene regulation and gene networks within skeletal muscles using The Collaborative Cross mouse resource
  • Evaluation of viral therapy for McArdle’s disease
  • Identification of the genetic cause of a naturally occurring ovine muscular dystrophy
  • Genetics of muscle wasting, including ageing
  • Application of next generation sequencing technologies for non-invasive prenatal diagnosis

Selected  publications

  1. Nowak KJ, Wattanairichaigonn D, Goebel HH, Wilce M, Peline K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Muller CR, Nurnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson A, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. (1999) Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics, 23, 208-212. [NCBI PubMed Entry]
  2. Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs A-M, Dobbie JA, Appleton, RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. (2007) Nemaline myopathy caused by absence of α-skeletal muscle actin. Annals of Neurology. 61(2):175-184. [NCBI PubMed Entry]
  3. KJ Nowak, G Ravenscroft, C Jackaman, A Filipovska, SM Davies, EM Lim, SE Squire, AC Potter, E Baker, S Clément, CA Sewry, V Fabian, K Crawford, JL Lessard, LM Griffiths, JM Papadimitriou, Y Shen, G Morahan, AJ Bakker, KE Davies and NG Laing. (2009) Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. Journal of Cell Biology. 185:903-915. [NCBI PubMed Entry]
  4. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ (2009) Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1) Human Mutation. 30(9):1267-1277. [NCBI PubMed Entry]
  5. Ravenscroft G, Jackaman C, Brignans S, Papadimitriou J, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (2011) Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain. 134(Pt 4):1101-15. [NCBI PubMed Entry]
  6. Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (2011) Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One 6(12):e28699. [NCBI PubMed Entry]
  7. Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. (2012) Clinical utility gene card for nemaline myopathy. Eur J Hum Genet 20(6). doi: 10.1038/ejhg.2012.70. [Eur J Hum Genet]
  8. Ochala J, Ravenscroft G, Laing NG, Nowak KJ. (2012) Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. PLoS One. 2012;7(9):e45923. [PLoS One Entry]
  9. Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ. 2013. Cardiac α-actin over-expression therapy in dominant ACTA1 disease. Human Molecular Genetics 22(19):3987-97. [NCBI PubMed Entry]
  10. Ochala J, Iwamoto H, Ravenscroft G, Laing NG, Nowak KJ. (2013) Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production. Hum Mol Genet. 22(21):4398-404. [NCBI PubMed Entry]

Selected reviews and book chapters

  1. Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. (2003) Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscular Disorders. 13(7-8):519-531.  * One of the most highly cited papers for this journal.
  2. Davies KE, Nowak KJ. (2006) Molecular mechanisms of muscular dystrophies: old and new players. Nature Reviews Molecular Cell Biology. 7(10):762-773.
  3. Laing NG and Nowak KJ (2005) When contractile proteins go bad: the sarcomere and skeletal muscle disease. BioEssays 27(8):809-822.
  4. Nowak KJ. (2012) Trusting new age weapons to tackle titin. Brain. 135(Pt 6):1665-7.
  5. Nowak KJ, Lamont PJ & LaingNG (2012) Chapter 4: Genetics of Muscle Disease, in Muscle Disease: Pathology & Genetics, eds Goebel H, Sewry CA, Weller R. John Wiley & Sons, Ltd, England.  pp39-67.
  6. Nowak KJ, Ravenscroft G, Laing NG. (2012) Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.  Acta Neuropathol. 125(1):19-32.
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