Western Australian Institute for Medical Research (WAIMR)


Assistant Professor Kristen Nowak

Kristen Nowak

Phone: +61 8 9346 7377
Email: kristen.nowak@waimr.uwa.edu.au

Assistant Professor Kristen Nowak completed a Bachelor of Science (Biotechnology) with Honours in Molecular Biology at Murdoch University in 1996. After working as a research assistant for Professor Nigel Laing for two years at the Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Kristen completed her PhD on the genetics of floppy baby syndrome and other muscle diseases.

Due to her discoveries, Kristen was named Young Western Australian of the Year, Science and Technology, in 2001. Kristen was awarded an Australian National Health and Medical Research Council (NHMRC) CJ Martin Fellowship to spend two years in Professor Kay Davies' Laboratory at the Department of Human Anatomy & Genetics, University of Oxford. Whilst in the Oxford Laboratory, Kristen began her investigations towards finding a therapy for floppy baby disease.

Kristen has returned to Professor Laing's Laboratory at WAIMR and the Centre for Medical Research, UWA. In 2005, along with Professor Laing and Professor North from Sydney, Kristen received funding from the NHMRC for the next 5 years to continue her work finding muscle disease genes and researching possible therapies.

In October 2007 Kristen was announced as the winner of the Premier's Prize for Early Career Achievement in Science 2007.


1995BSc - Biotechnology, Murdoch University, Australia
1996Honours - Molecular Biology, Murdoch University, Australia
Thesis Title: "Development of an internal standard for a Phytophthora cinnamomi PCR detection test"
2002PhD - Division of Veterinary and Biomedical Sciences, Murdoch University, Australia
Thesis Title: "Genomic and functional genomic investigations of neuromuscular disorders"

Research Interests

  • The genetics of neuromuscular diseases.
  • Production of recombinant proteins.
  • Therapeutic approaches for neuromuscular disease.
  • Actin proteins.

Scientific Involvement

  • Human Genetics Society of Australasia (HGSA) - Honorary Secretary of the Western Australian Branch 2004 to 2006; Member of the Organising Committee for the 2004 Annual Scientific Meeting held in Fremantle.
  • Australian Society for Medical Research - Representative on the WA Committee 2006 onwards.
  • European Neuromuscular Centre (ENMC) International Consortium on Nemaline Myopathy and Related Disorders - Member 1999 onwards.
  • World Muscle Society - Member 2002 onwards.

Major Grants Awarded

Kristen has received funding from the Australian National Health and Medical Research Council (NHMRC) (CJ Martin Fellowship and Project Grant), the Ada Bartholomew Trust (Faculty of Medicine, UWA), the Association Francaise contre les Myopathies (AFM) and the Muscular Dystrophy Association of the United States of America.

Top 10 Publications

  1. Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallayer J, Kakulas BA, Laing NG. 1999. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 67(2):174-179. [NCBI PubMed Entry] [IF 3.0]
  2. Nowak KJ, Wattanairichaigonn D, Goebel JJ, 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 alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics 23:208-212. [NCBI PubMed Entry] [IF 26.5]
  3. Nowak KJ, Walsh P, Jacob R, Johnsen R, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG. 2000. Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromuscular Disorders 10:100-107. [NCBI PubMed Entry] [IF 2.9]
  4. Ilkovski I, Cooper S, Nowak KJ, Schnell C, Ryan M, Yang N, Durling H, Roddick L, Wilkinson I, Kornberg A, Campbell K, Streeton M, Wallace G, Gunning P, Hardemann EC, Laing NG, North KN. 2001. Nemaline myopathy caused by mutations in the skeletal muscle alpha-actin gene. American Journal of Human Genetics 68:1333-1343. [NCBI PubMed Entry] [IF 11.6]
  5. Nowak KJ, Davies KE. 2004. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Reports 5(9):872-876. [NCBI PubMed Entry] [IF 10.5]
  6. Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST. 2004. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Human Molecular Genetics 13(16):1727-43. [NCBI PubMed Entry] [IF 8.6]
  7. Laing NG and Nowak KJ. 2005. When contractile proteins go bad: the sarcomere and skeletal muscle disease. BioEssays 27(8):809-822. [NCBI PubMed Entry] [IF 7.5]
  8. Donner K, Nowak KJ, Aro M, Pelin K, Wallgren-Pettersson C. 2006. Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128. Genomics 88(4):489-495. [NCBI PubMed Entry] [IF 3.1]
  9. Davies KE, Nowak KJ. 2006. Molecular mechanisms of muscular dystrophies: old and new players. Nature Reviews Molecular Cell Biology 7(10):762-773. [NCBI PubMed Entry] [IF 29.8]
  10. Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, 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 alpha-skeletal muscle actin. Annals of Neurology 61:175-184. [NCBI PubMed Entry] [IF 7.6]