GEX1A: A Novel Therapeutic Drug for the Treatment of Niemann-Pick Type C

Student: John Nee, 2015-2016

Sponsor: Prof. Richard Taylor - Chemistry and Biochemistry, Notre Dame, IN

The need for a cure to Niemann-Pick type C is paramount. Families that have children with NPC know that twenty years is likely all they will have together. The lysosomal storage disease not only affects these families emotionally, but it also puts pressure financially on them and their insurance companies. Luckily, GEX1A is an innovative therapeutic drug that can be used to treat NPC. It operates through an alternative mRNA splicing mechanics and has already been shown to be effective in treating NPC induced human fibroblast cells. But what might be even more promising is that its application can extend beyond to other protein misfolding related diseases. The development, production, and marketing of this drug can prove to be invaluable to a pharmaceutical company and it’s prospective users.