海角社区

Hudson Freeze helps doctors and families get often long-awaited answers about their child鈥檚 rare disease. His lab focuses on developing tests for congenital disorders of glycosylation, or CDGs, an umbrella term for more than 140 mutations that disrupt sugar linking.

First discovered in the 1990s, children with CDG have varying degrees of speech and language difficulty, poor balance, motor control, vision problems, hearing impairments and seizures. 

Remarkably, children with two specific CDG mutations who receive simple nutritional supplements can have dramatic symptom improvements鈥攕ometimes even living relatively normal lives. However, for the remaining 140 mutations, no treatments exist.