I am in Boston today. I had a nice discussion on the endoplasmic reticulum (ER) disease center. Wolfram syndrome is a prototype of ER disease, and I have identified three more disorders related to ER dysfunction. Through the center, we should be able to create a platform to develop functional assays for mutant genes and utilize these as novel diagnostic tools for rare ER stress disorders. This could lead to early diagnosis and intervention of ER disorders including Wolfram syndrome.
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