A paper announcing a breakthrough discovery in the fight against Niemann-Pick Type C, coauthored by Olaf Wiest and Paul Helquist in the Department of Chemistry and Biochemistry at Notre Dame, and Frederick Maxfield, Chair of Biochemistry at Cornell University Weill College of Medicine, appeared recently in the Proceedings of the National Academy of Science. The paper shows how use of a histone deacetylase inhibitor corrects the damage done by the genetic disorder and allows once-diseased cells to function normally.
Several of the compounds studied have been shown to be safe in advanced clinical studies of cancer and one compound currently is approved by the FDA
Three of the four grandchildren of former Notre Dame head football coach Ara Parseghian died of NPC and the University has been involved in research on the disorder for years. Last year, it formally united with the Parseghian Foundation, which sponsored this work.
For more information, see the official Notre Dame press release. There is also a write-up about it on the Wall Street Journal's health blog.