Sean Kassen | April 11, 2017
Niemann-Pick Type C (NPC) disease is a rare, genetic, cholesterol storage disorder that is always fatal, primarily striking children before or during adolescence, and it has a long history with the Notre Dame family. In 1994, Notre Dame alumni Cindy and Michael Parseghian founded the Ara Parseghian Medical Research Foundation after they learned that three of their four children were diagnosed with NPC disease. The foundation is named after Ara Parseghian, the legendary Notre Dame Football coach and the children’s grandfather.
When the foundation launched, there was limited knowledge of what caused NPC disease, no treatments, and the first NPC conference the foundation hosted had two researchers in attendance. Since then, they have raised in excess of $45 million, supported more than 75 scientific labs across the world, and the yearly conference hosts over 75 NPC disease researchers. Cindy Parseghain, Co-founder of the Ara Parseghian Medical Research Foundation and Notre Dame Trustee said, “Thanks to the generosity of thousands of donors, dedicated volunteers and devoted researchers, we have been able to make significant gains in understanding NPC disease and developing an effective treatment for the children who struggle with this tragic disease.”
In the late-2000s, the foundation supported many early-stage research programs to investigate therapeutics for NPC disease. One such class of compounds were called cyclodextrins, and they showed dramatic improvements in cell culture studies and animal models with the NPC mutation.