Knowledge of inherited diseases and the ability to rapidly, efficiently and comprehensively perform genetic testing are advancing steadily. However, the ideal approach to translate this ability into clinical applications for endocrine disorders has yet to be determined. This work focuses on aspects of clinically translating knowledge of select heritable endocrine and metabolic conditions.
For maturity onset diabetes of the young (MODY), a monogenic disorder with no current consensus guidelines governing testing procedures, this work addresses methods to improve detection by validating the use of next generation sequencing-based techniques to identify MODY cases and to detect copy number variations.
For very severe hypertriglyceridemia, a largely polygenic trait, this work explores clinical differences associated with the underlying genotype, assesses treatment of pancreatitis, the most severe acute complication of hypertriglyceridemia, and presents a population-based study of Ontario adults to identify the most important modifiable risk factors associated with expression of hypertriglyceridemia, and to identify any gaps in appropriate care for this population.
For heterozygous familial hypercholesterolemia, a condition for which universal genetic screening has been recommended, this work explores the personal impact of this diagnosis on the patient in terms of quality of life, lifestyle and self-care habits.
The ultimate goal of this project is to expand the available knowledge on how best to translate the laboratory ability and findings into the clinical realm for these select endocrine and metabolic conditions
