Hudson Freeze helps doctors and families get often long-awaited answers about their child’s 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—sometimes even living relatively normal lives. However, for the remaining 140 mutations, no treatments exist.

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Sanford Burnham Prebys scientists elected as AAAS Fellows

Two Sanford Burnham Prebys Medical Discovery Institute scientists have been honored as 2020 Fellows by the American Association for the Advancement of Science (AAAS). Eva Engvall, Ph.D., professor emerita; and Hudson Freeze, Ph.D., professor and director of the Human Genetics Program, were named Fellows in a vote by the AAAS Council.
24-Nov-2020 12:00:32 PM EST

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