Glycosylation, a biological process vital to life, is likely something you’ve never heard of before. It involves the addition of sugar molecules, known as glycans, to proteins and lipids which enable a number of crucial physiological functions, from immune regulation to cell-to-cell communication. This episode explores what happens when genetic mutations disrupt the glycosylation pathway as well as the detective work and collaboration required to diagnose and treat the resulting conditions. Hudson Freeze is the Director of the Sanford Children’s Health Research Centre and the Human Genetics Programme at Sanford Burnham Prebys Medical Discovery Institute, his research focuses on Congenital Disorders of Glycosylation, or CDG for short. Listen in as he reflects on the adventurous road to discovery of these rare conditions, the unlikely therapeutic options, the knowledge gap within the medical and scientific communities, and how a single discovery at Yellowstone National Park changed the course of history.
We Discuss:
Hudson’s Background [02:11]
Glycosylation vs. Glycation [03:37]
Congenital Disorders of Glycosylation (CDG) [06:10]
The Accelerating Pace of CDG Research [15:50]
Hudson’s Groundbreaking Discovery [21:02]
Utilising Animal Models for Glycosylation Research [25:36]
Including Families and Patients in CDG Research [34:51]
The Future of Diagnostic Options [40:55]
The Role of Dietary Supplementation in CDG Treatment [45:37]
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