HMGGP Annual Retreat

Nicole presented her early work focused on interpreting variants of unknown significance for two inborn errors of metabolism: pyridoxine-dependent epilepsy (PDE) and ornithine transcarbamylase (OTC) deficiency. This work focused on both measuring enzyme activity using an e.coli-based expression vector and RNA studies using an OTC minigene.

Nicole will also present these projects at the Society for Inherited Metabolic Disorders meeting in May 2026.