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Kit DoudneyProfessional Practice Fellow Honorary Research Fellow

BSc, MSc(Hons) (Otago), PhD(London)

Email kit.doudney@otago.ac.nz

Affiliations

  • Department of Pathology and Biomedical Science
  • Centre for Postgraduate Nursing Studies

Research interests

Kit has studied and taught the molecular genetic basis of human disease since 1991. He has contributed to understanding the genetic mechanisms involved in the disorders of Friedreich's ataxia, X-linked cleft palate, severe neural tube defects and rare variants underlying sudden cardiac death. These projects have contributed to discoveries involving trinucleotide repeat expansion pathogenicity, T-Box transcription factor gene disruption and mammalian palatal shelf formation, the role that planar cell polarity genes play in co-ordinated tissue patterning during embryonic development, as well as CNVs possibly underlying Takotsubo cardiomyopathy.

Research expertise

Copy Number Variants in neurological disorders and sudden cardiac death associated with inherited variants within the Pyrophosphatase 2 (PPA2) gene.

Teaching responsibilities

Course convenor and Lecturer in Nursing Science courses:

  • NURS443 Anatomy and physiology
  • NURS444 Pathophysiology
  • NURS427 Pathophysiology

Publications

Achleitner, M., Guimier, A., Nehoff, H., Crozier, I., Thompson, R., Dunn, K., … Doudney, K. (2023, June). Inherited mitochondrial pyrophosphatase 2 dysfunction in response to infection and alcohol metabolism. Poster session presented at the European Society of Human Genetics (ESHG) European Human Genetics Hybrid Conference, Glasgow, UK.

Doudney, K. (2022, November). Sudden cardiac death associated with inherited pyrophosphatase 2 dysfunction. School of Biological Sciences Seminar, University of Canterbury, Christchurch, New Zealand. [Department Seminar].

Doudney, K. (2022, February). Heart muscle crisis identified in further cases of inherited pyrophosphatase 2 dysfunction. UOC Research Seminar Series, University of Otago, Christchurch, New Zealand. [Research Presentation].

Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., … Kennedy, H. L., George, P. M., Kidd, A., … Doudney, K. (2021). PPA2-associated sudden cardiac death: Extending the clinical and allelic spectrum in 20 new families. Genetics in Medicine, 23, 2415-2425. doi: 10.1038/s41436-021-01296-6

Doudney, K., Lacey, C. J., Bridgman, P. G., Mulder, R. T., Zarifeh, J. J., Kimber, B., Cadzow, M., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2019). Rare copy number variants involving cardiac function and development genes detected in earthquake induced takotsubo cardiomyopathy patients. European Journal of Human Genetics, 27(Suppl. 1), (pp. 160). doi: 10.1038/s41431-019-0407-4

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