Rate My Professor Kit Doudney

Dr Kit Doudney serves as Professional Practice Fellow and Honorary Research Fellow in the Department of Nursing at the University of Otago, Christchurch, within the Health Sciences Division. He earned his BSc and MSc (Hons) from the University of Otago and PhD from the University of London. Since 1991, Doudney has studied and taught the molecular genetic basis of human disease, contributing to key discoveries in genetic mechanisms underlying Friedreich's ataxia involving trinucleotide repeat expansion pathogenicity, X-linked cleft palate through T-Box transcription factor gene disruption and mammalian palatal shelf formation, severe neural tube defects via planar cell polarity genes CELSR1 and SCRIB in coordinated embryonic tissue patterning, and rare variants linked to sudden cardiac death, including those in the PPA2 gene and copy number variants (CNVs) potentially implicated in Takotsubo cardiomyopathy. His work spans neurological disorders, cardiac conditions, and developmental anomalies, with ongoing research into copy number variants in neurological disorders and PPA2-related sudden cardiac death.

Doudney is course convenor and lecturer for undergraduate and postgraduate nursing science courses, including NURS443 Anatomy and Physiology, NURS444 Pathophysiology, and NURS427 Pathophysiology. He holds affiliations with the Department of Pathology and Biomedical Science and the Centre for Postgraduate Nursing Studies, and supervises postgraduate nursing research on topics such as pathophysiology of sudden cardiac death related to genetic variants and genetic biology of type I diabetes. Key publications include '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, 2025, co-authored with Stevens et al.), 'Antenatal presentation of mitochondrial inorganic pyrophosphatase (PPA2) deficiency: A report on two cases' (European Journal of Human Genetics, 2024, with Guimier et al.), 'PPA2-associated sudden cardiac death: extending the clinical and mutational spectrum' (Genetics in Medicine, 2022), 'Copy number variants implicate cardiac function and development genes in Takotsubo cardiomyopathy' (Scientific Reports, 2018), 'Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with neural tube defects' (Human Mutation, 2012), and early contributions to 'The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase' (Nature Genetics, 1996). He has delivered seminars on PPA2 dysfunction at the University of Canterbury and University of Otago Christchurch.