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PMM2-CDG is a rare but devastating disease that affects almost every part of the body. Learn more about the disease in this video
PMM2-CDG is a rare but devastating disease that affects almost every part of the body. That’s because it is caused by a mutation in a fundamental gene (PMM2) involved in the addition of sugars to proteins.
To attempt to treat the disease, researchers are trying to bypass the effect of the damaged PMM2 by cleverly disguising sugars to enter the cell and hopefully repair the dysfunctional proteins.
This video was produced with support from the Amour Fund.