Dr Kit Doudney , Our people, University of Otago, Christchurch

Professional Practice Fellow Honorary Research Fellow

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

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

Stevens, A. J., Kennedy, M. A., Doudney, K., Kidd, M. J. A., & Rucklidge, J. J. (2025). Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment. Psychiatry Research Case Reports. Advance online publication. doi: 10.1016/j.psycr.2025.100254 Journal - Research Article

Guimier, A., Gueguen, P., Médéric, J., Hurst, A. C. E., Boutaud, L., Derive, N., … Doudney, K., … Amiel, J. (2024). Antenatal presentation of mitochondrial inorganic pyrophosphatase (PPA2) deficiency: A report on two cases. European Journal of Human Genetics, 32(Suppl. 2), P13.026.D. doi: 10.1038/s41431-024-01734-4 Journal - Research Article

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. Conference Contribution - Poster Presentation (not in published proceedings)

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]. Other Research Output

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]. Other Research Output

2025

Journal - Research Article

2024

Journal - Research Article

2023

Conference Contribution - Poster Presentation (not in published proceedings)

2022

Other Research Output

2021

Journal - Research Article

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

2019

Journal - Research Article

Watson, G. M., Chan, C. W., Belluscio, L., Doudney, K., Lacey, C. J., Kennedy, M. A., & Bridgman, P. (2019). Comparing the variants of takotsubo syndrome: An observational study of the ECG and structural changes from a New Zealand tertiary hospital. BMJ Open, 9(5), e025253. doi: 10.1136/bmjopen-2018-025253

Conference Contribution - Published proceedings: Abstract

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

2018

Journal - Research Article

Lacey, C. J., Doudney, K., Bridgman, P. G., George, P. M., Mulder, R. T., Zarifeh, J. J., Kimber, B., Cadzow, M. J., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2018). Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. Scientific Reports, 8, 7548. doi: 10.1038/s41598-018-25827-5

Journal - Research Other

Watson, G. M., Chan, C. W., Doudney, K., & Bridgman, P. G. (2018). A population-based study of the diabetes paradox in stress cardiomyopathy. New Zealand Medical Journal, 131(1485), 88-89. Retrieved from https://www.nzma.org.nz/journal

Conference Contribution - Published proceedings: Abstract

Watson, G., Chan, C., Doudney, K., Lacey, C., & Bridgman, P. (2018). The variants of Takotsubo Syndrome differ in more ways than just the echo pattern. Heart, Lung & Circulation, 27(Suppl. 1), (pp. S16). doi: 10.1016/j.hlc.2018.05.135

2017

Conference Contribution - Published proceedings: Abstract

Doudney, K. (2017). Collaborative opportunities at Canterbury Health Laboratories: A tertiary-level diagnostics laboratory. New Zealand Medical Journal, 130(1459), (pp. 79-80). Retrieved from http://www.nzma.org.nz/journal

Working Paper; Discussion Paper; Technical Report

Lacey, C. J., Doudney, K., Bridgman, P. G., George, P. M., Mulder, R. T., Zarifeh, J. A., Kimber, B., Cadzow, M. J., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2017). Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. bioRxiv. doi: 10.1101/144675

2016

Journal - Research Article

Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E. R., Potter, H., MacKay, R., … King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., … George, P. M., Doudney, K., & Mayr, J. A. (2016). Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. American Journal of Human Genetics, 99(3). doi: 10.1016/j.ajhg.2016.06.027

Conference Contribution - Published proceedings: Abstract

Doudney, K., Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E., … MacKay, R., … King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C., … George, P., … Mayr, J. (2016). Mitochondrial inorganic pyrophosphatase (PPA2) mutations underlie a spectrum of cardiomyopathy disorders. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 41). [Abstract]

Conference Contribution - Verbal presentation and other Conference outputs

Kidd, A., Hughes, J., Millow, E., Watt, J., Doudney, K., Bickley, V., … Kennedy, H., … King, R., & Porter, R. (2016, October). Genetic investigations in adults presenting to PSAID (Psychiatric Services for Adults with Intellectual Disabilities). Invited presentation at the Royal Australian & New Zealand College of Psychiatrists New Zealand Conference: Recover, Rebuild, Regenerate, Christchurch, New Zealand.

2015

Journal - Research Article

Balasubramanain, D., Deng, A. X., Doudney, K., Hampton, M. B., & Kennedy, M. A. (2015). Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line. Neuropharmacology, 99, 79-88. doi: 10.1016/j.neuropharm.2015.06.018

Chua, E. W., Cree, S., Barclay, M. L., Doudney, K., Lehnert, K., Aitchison, A., & Kennedy, M. A. (2015). Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers. Pharmacogenomics Journal, 15, 414-421. doi: 10.1038/tpj.2015.9

Conference Contribution - Verbal presentation and other Conference outputs

Kennedy, H., Doudney, K., Mina, K., Potter, H., Florkowski, C., King, R., MacKay, R., … Crozier, I., & George, P. (2015, August-September). Exome sequencing identifies rare variants in a family with alcohol-induce sudden cardiac death. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

Kennedy, M., Doudney, K., Bickley, V., Bridgman, P., Cameron, V., Cadzow, M., Black, M., Merriman, T., … Miller, A., Zarifeh, J., Kimber, B., George, P., & Lacey, C. (2015, August-September). Genomes, earthquakes and broken hearts. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

2014

Journal - Research Article

Stevens, A. J., Stuffrein-Roberts, S., Cree, S. L., Gibb, A., Miller, A. L., Doudney, K., Aitchison, A., Eccles, M. R., Joyce, P. R., … Kennedy, M. A. (2014). G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter. PLoS ONE, 9(12), e113955. doi: 10.1371/journal.pone.0113955

2013

Conference Contribution - Published proceedings: Abstract

Stevens, A. J., Stuffrein-Roberts, S., Macmil, S., Gibb, A., Doudney, K., Miller, A. L., Bagshaw, A., Aitchison, A., Eccles, M. R., Joyce, P. R., … Kennedy, M. A. (2013). Allelic-dropout during PCR of the imprinted MEST promoter caused by interaction between G-quadruplex structures and DNA methylation. Proceedings of the 4th International Meeting on G-quadruplex Nucleic Acids: From Structure to Chemistry and Biology. 83. Retrieved from http://www.g4meeting2013.com/

2012

Journal - Research Article

Robinson, A., Escuin, S., Doudney, K., Vekemans, M., Stevenson, R. E., Greene, N. D. E., … Stanier, P. (2012). Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Human Mutation, 33(2), 440-447. doi: 10.1002/humu.21662

Conference Contribution - Poster Presentation (not in published proceedings)

Stevens, A., Stuffrein-Roberts, S., Miller, A., Gibb, A., Doudney, K., Bagshaw, A., Aitchison, A., Eccles, M., … Kennedy, M. (2012, August). G-quadruplex DNA structures, genomic imprinting and allelic drop-out in PCR. Poster session presented at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

Conference Contribution - Verbal presentation and other Conference outputs

Stevens, A. J., Stuffrein-Roberts, S., Miller, A. L., Gibb, A., Doudney, K., Bagshaw, A., Aitchison, A., Eccles, M. R., … Kennedy, M. A. (2012, August). G-quadruplex DNA structures, genomic imprinting and allelic drop-out in PCR. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

2011

Conference Contribution - Published proceedings: Abstract

Harley, J. A., Kennedy, M. A., Doudney, K., Allington, M., Pearson, J., Black, M., & Joyce, P. R. (2011). Antidepressants cause specific changes in the rat peripheral blood transcriptome. Biological Psychiatry. 69(9, Suppl. 1), (pp. 89S). [Abstract]

2010

Conference Contribution - Published proceedings: Abstract

Harley, J. A., Doudney, K., Allington, M. A., McNoe, L., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2010). Antidepressant specific changes in rat whole blood gene expression identified by gene-chip analysis. Proceedings of the Australasian Society of Clinical and Experimental Pharmacologists and Toxicologists New Zealand Annual Scientific Meeting and the 6th Annual Carney Pharmacogenomics Symposium. ASCEPT. Retrieved from http://www.ascept.org.nz/

2009

Journal - Research Article

Doudney, K., Harley, J. A., Pearson, J. F., Miller, A., Aitchison, A., Kennedy, M. A., Porter, R. J., Elmslie, J. L., & Joyce, P. R. (2009). Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain. Acta Neuropsychiatrica, 21(3), 133-140. doi: 10.1111/j.1601-5215.2009.00379.x

Journal - Research Other

Doudney, K., Grinham, J., Whittaker, J., Lynch, S. A., Thompson, D., Moore, G. E., … Stanier, P. (2009). Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. American Journal of Medical Genetics Part A, 149A(7), 1585-1589. doi: 10.1002/ajmg.a.32937

Conference Contribution - Published proceedings: Abstract

Doudney, K., Harley, J. A., Pearson, J. F., Miller, A., Aitchison, A., Kennedy, M. A., Porter, R. J., Elmslie, J. L., & Joyce, P. R. (2009). Upstream genetic variant near INSIG2 is associated with adipose metabolism in bipolar patients with valproate induced weight gain. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf

Kennedy, M. A., Deng, X. Y., Doudney, K., McHugh, P. C., & Joyce, P. R. (2009). Exploring gene regulation by antidepressant drugs. Proceedings of the American Society of Human Genetics 59th Annual Meeting. (pp. 633). Retrieved from http://www.ashg.org/2009meeting/pdf/poster_4up.pdf

Doudney, K., Harley, J. A., Deng, X. Y., Allington, M., Waldvogel, H. J., Faull, R. L. M., Joyce, P. R., & Kennedy, M. A. (2009). Brain and peripheral gene expression changes in rats after two weeks of exposure to antidepressant drugs. Proceedings of the American Society of Human Genetics 59th Annual Meeting. (pp. 626). Retrieved from http://www.ashg.org/2009meeting/pdf/poster_4up.pdf

Harley, J. A., Doudney, K., Allington, M., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2009). Blood mRNA changes induced by antidepressants. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf

Deng, S., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009). Gene regulation by drugs used to treat mood disorders. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf

Harley, J. A., Doudney, K., Allington, M., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2009). Blood mRNA changes induced by antidepressants: Future biomarkers to tailor depression treatment? Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]

Doudney, K., Harley, J. A., Deng, X. Y., Allington, M., Waldvogel, H. J., Faull, R. L. M., Joyce, P. R., & Kennedy, M. A. (2009). Gene expression changes in rat brain following antidepressant drug treatment. Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]

Deng, X., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009). Gene regulation by drugs used to treat mood disorders. Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]

Conference Contribution - Poster Presentation (not in published proceedings)

Deng, X. S., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009, September). Gene regulation by drugs used to treat mood disorders. Poster session presented at the Third Annual Division of Health Sciences Research Forum, Wellington, New Zealand.

2008

Conference Contribution - Published proceedings: Abstract

Deng, X., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2008). Gene regulation by antidepressant drugs. Proceedings of the 4th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.chmeds.ac.nz/research/carneycentre/symposium.htm

Harley, J. A., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2008). Search for the black bile: Biomarkers of antidepressant exposure. Proceedings of the 8th Annual Australasian Microarray and Associated Technologies (AMATA) Conference. Retrieved from http://www.amata.org.au/index.php/resources/2008-conference-abstracts

2007

Journal - Research Article

Dunlevy, L. P. E., Chitty, L. S., Burren, K. A., Doudney, K., Stojilkovic-Mikic, T., Stanier, P., … Greene, N. D. E. (2007). Abnormal folate metabolism in foetuses affected by neural tube defects. Brain, 130, 1043-1049.

Andreou, A. M., Pauws, E., Jones, M. C., Singh, M. K., Bussen, M., Doudney, K., … Stanier, P. (2007). TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. American Journal of Human Genetics, 81, 700-712.

Conference Contribution - Published proceedings: Abstract

Doudney, K., Ybot-Gonzalez, P., Greene, N., Murdoch, J., Copp, A., & Stanier, P. (2007). Mouse models towards human neural tube defect genes. New Zealand Medical Journal, 120(1252). Retrieved from http://journal.nzma.org.nz/journal/120-1252/2506/content.pdf