Malignant hyperthermia is a concern for all in pediatric anesthesiology. The opportunity to solve some of the mysteries surrounding the genetics and phenotypic variation is irresistible.
The McAuliffe research lab seeks to evolve an in-vitro system that utilizes a combination of induced pluripotent stem cells, genetically engineered calcium reporters, and machine learning to:
- Enable diagnosis of malignant hyperthermia susceptibility (MHS) without the need for an invasive muscle biopsy and caffeine-halothane contracture test.
- Enable investigation of calcium dynamics in multiple organelles in muscle both at rest, and during exposure to triggering agents.
- Establish phenotypes in other muscle disorders without exposing patients to potentially triggering agents or to invasive biopsies.
- Provide a robust mechanism for establishing the pathogenicity of putative disease-causing variants regardless of gene locus.
The ability to establish diagnosis without muscle biopsy and test variants for pathogenicity would significantly enhance the ability to understand other rare pharmaco-genetic muscle disorders.