Investigating adding ABL and related disorders to newborn screening panels

In this episode of "Living Ultra Rare," host Paul Biderman interviews Yoyo, a Caltech undergraduate studying biology and chemistry. Yoyo discusses her research on rare diseases, particularly Abetalipoproteinemia (ABL), and her participation in the Harvard Rare Disease Hackathon. Yoyo highlights the challenges of diagnosing ABL, the importance of early intervention, and her current project with the ABL Plus Foundation aimed at incorporating ABL into newborn screening panels. This episode underscores the significance of early diagnosis and community collaboration in improving outcomes for rare disease patients.