Remai Parker

Citation

Thesis Title
Functional consequences of RyR1 variants

Read article at Massey Research Online:

Malignant hyperthermia is a rare genetic disorder that affects skeletal muscle. Individuals with this condition are at risk of a severe reaction to certain anaesthetics used in surgery. A life-threatening episode can develop rapidly, and must be identified and treated immediately to avoid fatalities. Diagnostic testing currently requires a morbidly invasive muscle biopsy, because most people susceptible to malignant hyperthermia appear normal when not exposed to a trigger. DNA testing provides an ideal alternative for diagnosis, but this is limited by the small number of diagnostic mutations known. Miss Parker investigated genetic variants linked to malignant hyperthermia susceptibility, with the aim of expanding the capabilities of DNA testing. She developed novel molecular tools that were then applied to identify several genetic variants that may be used in the diagnosis of malignant hyperthermia in the future.

Supervisors
Professor Kathryn Stowell
Dr Anja Schiemann