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Prof Kathryn Stowell staff profile picture

Contact details +64 (06) 356 9099  ext. 84721

Prof Kathryn Stowell PhD, BSc(Hons)

Professor in Biochemistry /Biomedical Science

School of Fundamental Sciences
  • Started working life as a Biochemistry technician at Massey University in 1976
  • Graduated BSc(Hons) in 1985 and PhD in 1991 (both in Biochemistry) from Massey University
  • Post-doctoral Fellow Sir William Dunn School of Pathology, University of Oxford 1991-1993
  • Appointed lecturer in Biochemistry, Massey University from 1993
  • Applied Biosystems NZSBMB Award in 2009
  • Appointed Associate Professor in Biochemistry in 2009
  • Research laboratory accredited by IANZ for medical testing 2010
  • Appointed as an Officer of the New Zealand Order of Merit (ONZM) in 2015 for contribution to Biomedical Science
  • Appointed Professor in Biochemistry in 2016
  • Registered as a Medical Laboratory Scientist in 2018


Roles and Responsibilities

  • Trustee and Board member of PNMRF since 1996
  • Secretary of NZSBMB from 1998-2002
  • Director of Postgraduate studies in IMBS from 2000
  • Biochemistry Major leader from 2001
  • Director of Postgraduate studies in IFS/SFS from 2013
  • Appointed Functional Genetics Officer of the European Malignant Hyperthermia Group from 2016
  • Appointed Vice President of the PNMRF in 2017
  • Regional Representative for NZSBMB from 2018
  • Appointed to RYR1 ClinGen Expert Panel in 2019

I am a biochemist with a background in human physiological biochemistry, protein biochemistry and regulation of gene expression. My research interests turned towards molecular genetics with a focus on the underlying causes of Malignant Hyperthermia in humans, but I remain a biochemist at heart. I work closely with anaesthetists at Palmerston North hospital on DNA analysis for Malignant Hyperthermia and calcium homeostasis in skeletal muscle. I run a research laboratory as well as an IANZ accredited diagnostic laboratory for Malignant Hyperthermia and teach a range of subjects including DNA structure, function and analysis, metabolic biochemistry and regulation of gene expression.

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Professional

Contact details

  • Ph: +64 6 9517721 ext 84721
    Location: ScD3.08a, Science Tower D
    Campus: Manawatu

Qualifications

  • Doctor of Philosophy - Massey University (1991)
  • Bachelor of Science (Honours) - Massey University (1986)

Prizes and Awards

  • Officer of the New Zealand Order of Merit for services to Biomedical Science - Her Majesty Queen Elizabeth II (2015)
  • New Zealand Society for Molecular Biology and Biochemistry/ Applied Biosystems award - (2009)

Research Expertise

Research Interests

  • Biochemistry and molecular genetics of malignant hyperthermia
  • Functional analysis of RYR1 variants

Thematics

Health and Well-being

Area of Expertise

Field of research codes
Biochemistry and Cell Biology (060100): Biological Sciences (060000): Gene Expression (incl. Microarray and other genome-wide approaches) (060405): Genetics (060400):
Medical And Health Sciences (110000): Medical Biochemistry and Metabolomics (110100): Medical Biochemistry: Nucleic Acids (110105): Medical Biochemistry: Proteins and Peptides (incl. Medical Proteomics) (110106): Preventive Medicine (111716): Public Health and Health Services (111700):
Receptors and Membrane Biology (060110)

Keywords

  • SNP detection and HRM analysis
  • RT-qPCR
  • General protein biochemistry
  • General molecular biology
  • Targeted exon and whole exome sequencing
  • Calcium homeostasis in skeletal muscle

Research Projects

Summary of Research Projects

Position Current Completed
Not Specified 0 1
Project Leader 5 31

Current Projects

Project Title: Genetic Diagnosis of Malignant Hyperthermia

Our research will improve diagnosis of malignant hyperthermia (MH), which is a potentially fatal genetic disorder triggered by inhalational anaesthetics. If MH is diagnosed before surgery safe anaesthesia can be given to the patient. The current diagnosis is morbidly invasive (requiring a large muscle biopsy) and costly. Recently, we have found new mutations in MH-susceptible families that could form the basis of DNA tests for MH. Before carrying out these tests, we must show that the new mutations cause MH. This will allow us to provide simple, rapid, non-invasive and inexpensive DNA testing.
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Date Range: 2020 - 2022

Funding Body: Palmerston North Medical Research Foundation

Project Team:

Project Title: NSC - Biological mimicry for medical diagnostics

Date Range: 2019 - 2021

Funding Body: Callaghan Innovation

Project Team:

Completed Projects

Project Title: Functional effects of RYR1 mutations

Malignant hyperthermia (MH) is a genetic disorder that is triggered by inhalational anaesthetics administered for general anaesthesia. MH manifests as a range of clinical symptoms including muscle rigidity, irregular heart rate and high temperature. Metabolically, MH results from dysregulated skeletal muscle homeostasis. If not rapidly recognized and treated, an MH episode can lead to death. If MH-susceptibility can be determined prior to general anaesthesia, an alternative non-triggering and safe anaesthetic procedure is used, thus MH can potentially be prevented. We use a range of state-of-the-art molecular tools to identify causative mutations in families known to be MH-susceptible. Once mutations have been shown to segregate within a family, we move to functional characterization to confirm dysregulation of calcium homeostasis. Finally, we develop and implement DNA-based predictive diagnostic tests. Thus far we have identified mutations that cause MH, and implemented DNA-based diagnostic tests for approximately half the New Zealand families affected by this disorder. This is an example of translational medical research and is carried out in collaboration with specialist anaesthetists at Palmerston North Hospital.
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Date Range: 2012 - 2012

Funding Body: Massey University

Project Team:

Project Title: Novel determinants of malignant hyperthermia

Malignant hyperthermia (MH) is a genetic disorder that is triggered by inhalational anaesthetics administered for general anaesthesia. MH manifests as a range of clinical symptoms including muscle rigidity, irregular heart rate and high temperature. Metabolically, MH results from dysregulated skeletal muscle homeostasis. If not rapidly recognized and treated, an MH episode can lead to death. If MH-susceptibility can be determined prior to general anaesthesia, an alternative non-triggering and safe anaesthetic procedure is used, thus MH can potentially be prevented. We use a range of state-of-the-art molecular tools to identify causative mutations in families known to be MH-susceptible. Once mutations have been shown to segregate within a family, we move to functional characterization to confirm dysregulation of calcium homeostasis. Finally, we develop and implement DNA-based predictive diagnostic tests. Thus far we have identified mutations that cause MH, and implemented DNA-based diagnostic tests for approximately half the New Zealand families affected by this disorder. This is an example of translational medical research and is carried out in collaboration with specialist anaesthetists at Palmerston North Hospital.
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Date Range: 2009 - 2010

Funding Body: Massey University

Project Team:

Project Title: Malignant Hyperthermia Mutations

Malignant hyperthermia (MH) is a genetic disorder that is triggered by inhalational anaesthetics administered for general anaesthesia. MH manifests as a range of clinical symptoms including muscle rigidity, irregular heart rate and high temperature. Metabolically, MH results from dysregulated skeletal muscle homeostasis. If not rapidly recognized and treated, an MH episode can lead to death. If MH-susceptibility can be determined prior to general anaesthesia, an alternative non-triggering and safe anaesthetic procedure is used, thus MH can potentially be prevented. We use a range of state-of-the-art molecular tools to identify causative mutations in families known to be MH-susceptible. Once mutations have been shown to segregate within a family, we move to functional characterization to confirm dysregulation of calcium homeostasis. Finally, we develop and implement DNA-based predictive diagnostic tests. Thus far we have identified mutations that cause MH, and implemented DNA-based diagnostic tests for approximately half the New Zealand families affected by this disorder. This is an example of translational medical research and is carried out in collaboration with specialist anaesthetists at Palmerston North Hospital.
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Date Range: 2008 - 2009

Funding Body: Massey University

Project Team:

Research Outputs

Teaching and Supervision

Teaching Statement

  • Metabolic Biochemistry
  • Biochemistry of the rumen
  • Regulation of prokaryotic gene expression
  • DNA/protein interactions
  • DNA Topology
  • Detection and analysis of DNA polymorphisms
  • Recombinant DNA technology
  • Splicing and processing of eukaryotic transcripts
  • Post transcriptional regulation of gene expression
  • Regulation of eukaryotic gene expression
  • Regulation of gene expression by non-coding RNAs

Courses Coordinated

Graduate Supervision Statement

I operate an “open-door” policy for my graduate students encouraging them to discuss experimental results and any potential problems as they occur.  The intention here is to instill in the graduate student the ability to assimilate data, critically analyse it and ultimately “take charge” of their individual project as early in the programme as possible.  As some graduate students need to use shared biological resources there are ample opportunities to develop and implement teamwork strategies and skills.  To this end weekly research meetings are held with all laboratory personnel to formally present work in progress and informally discuss successes and failures.  This encourages interaction between students and research staff and assists in gaining confidence in both formal and informal presentation of work.

Graduate students themselves always prepare the first draft of any manuscript that may arise from the research work and I have acted as an effective mentor in a range of different subject areas that has ultimately led to publication.  The ultimate aim is to produce a self-critical graduate who can enter their chosen career with a sound background in appropriate scientific method, with the confidence to critically develop their own ideas, challenge others and be an independent and successful researcher.  


Summary of Doctoral Supervision

Position Current Completed
Supervisor 2 8
Co-supervisor 2 13

Current Doctoral Supervision

Supervisor of:

  • Sophie Burling - Doctor of Philosophy
    Innervated "muscle-on-a-chip" for improved diagnostics and investigation of neuromuscular disorders
  • Jeremy Stephens - Doctor of Philosophy
    Establishing systems to characterise MH pathogenic RyR1 variants

Co-supervisor of:

  • Danielle Visser - Doctor of Philosophy
    Structural and functional analysis of viral endopeptidases PeiW and PeiP: possible allies against methane production in ruminants
  • Marina Rajic - Doctor of Philosophy
    Development and applications of filamentous phage-derived particles in immunotherapy and diagnostics

Completed Doctoral Supervision

Supervisor of:

  • 2019 - Remai Parker - Doctor of Philosophy
    Functional consequences of RyR1 variants
  • 2013 - Cornelia Roesl - Doctor of Philosophy
    Functional and structural characterisation of the Malignant Hyperthermia associated RYR1 mutation R2452W
  • 2013 - Sarah Taylor - Doctor of Philosophy
    Novel models of tendon injury and gap junction modulation in tendon cell and tissue repair
  • 2012 - Roger Watkins - Doctor of Philosophy
    The Biogeographym Ecology and Endophyte mycorrhiza of the New Zealand Corybas Alliance (orchidaceae)
  • 2010 - Keisaku Sato - Doctor of Philosophy
    A functional analysis of RYRI mutations causing malignant hyperthermia
  • 2010 - Natisha Magan - Doctor of Philosophy
    Protein interactions at the human topoisomerase II alpha promoter
  • 2009 - Albert Grievink - Doctor of Philosophy
    Malignant hyperthermia: Allele specific expression and mutation screening of the ryanodine receptor 1
  • 2006 - Henning Koehn - Doctor of Philosophy
    Reduction in ChemoSensitivity with Breast Cancer Chemotheraphy.

Co-supervisor of:

  • 2018 - Aakansha Kanojia - Doctor of Philosophy
    Stress-adapation and ageing is controlled by senescence-inducing age related changes in Arabidopsis thaliana
  • 2017 - Silvia Schwartz - Doctor of Philosophy
    Investigating the role of Histone Deacetylase HDAC4 in long-term memory formation
  • 2017 - Sarah Bond - Doctor of Philosophy
    Histone H1 phosphorylation during mitosis
  • 2015 - Rebecca Smith - Doctor of Philosophy
    ATM and p400: Characterisation of a novel interaction between a DNA repair enzyme and a chromatin remodeler
  • 2014 - Sadia Sattar - Doctor of Philosophy
    Filamentous phage-derived nano-rods for applications in diagnostics and vaccines
  • 2014 - Jan Richter - Doctor of Philosophy
    Structure and function of the eukaryotic ADP-dependent glucokinase
  • 2013 - Swee Chong - Doctor of Philosophy
    Phytochemical-rich potato extracts and potential for risk reduction in tamoxifen treatment of breast cancer
  • 2010 - Corey Laverty - Doctor of Philosophy
    The importance of the promoter in Drosophila dosage compensation
  • 2009 - Keren Dittmer - Doctor of Philosophy
    Inherited Rickets in Corriedale Sheep
  • 2007 - Xingzhang Tong - Doctor of Philosophy
    Transcriptional regulation of appressorium formation and function in Glomerella Cingulata.
  • 2006 - Chioma Okeoma - Doctor of Philosophy
    Studies on Neospora Caninum and Neosporosis in New Zealand
  • 2005 - Vikki Weake - Doctor of Philosophy
    The x-linked #LSP1a# Gene of #Drosphila Melanogaster# is not Acetylated by MOF, but is sex-specifically Regulated by Individual Components of the MSL Complex.
  • 1996 - Heather Bain - Doctor of Philosophy
    Isolation and Characterisation of the 5' region of the Bovine Lactoferrin Gene

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