The 2023-2024 Discovery Series season kicks off with Dr. Aimee Dudley, who will be sharing research on DNA sequencing based newborn screening.

September is Newborn Screening Awareness Month. Newborn screening (NBS) is a successful public health program that can prevent illness and death by pre-symptomatically identifying rare, serious, and treatable diseases that can appear in the newborn period. Unfortunately, the positive impact of NBS is currently limited to a set of ~35 conditions that can be screened biochemically. While genome sequencing could rapidly screen for most of the hundreds of inherited diseases that arise in the newborn period, sequencing frequently returns variants of uncertain significance that cannot be used for diagnosis and treatment. Dr. Dudley will describe how her lab is using high throughput methods in Baker’s yeast to determine the functional impact of genetic variants in genes associated with a set of devastating, but treatable inherited metabolic diseases. Register here.