The Past, Present and Future of Congenital Disorders of Glycosylation with Prof. Hudson Freeze

Описание: 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:
02:11 - Hudson's Background
03:37 - Glycosylation vs. Glycation
06:10 - Congenital Disorders of Glycosylation (CDG)
15:50 - The Accelerating Pace of CDG Research
21:02 - Hudson's Groundbreaking Discovery
25:36 - Utilising Animal Models for Glycosylation Research
34:51 - Including Families and Patients in CDG Research
40:55 - The Future of Diagnostic Options
45:37 - The Role of Dietary Supplementation in CDG Treatment
57:11 - Overcoming Funding Challenges

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Please be advised that this show is for information only and should not be considered as a replacement or equal to medical advice.