I have had the pleasure to participate in the creation and development of a number of biomedical research centers including the Harper Cancer Research Institute, the Boler-Parseghian Center for Rare and Neglected Diseases, and the Warren Family Research Center for Drug Discovery and Development. These academic centers not only promote and support researchers with overlapping research interests on campus but also seek to identify beneficial complementary expertise through external partnerships. This is particularly true in translational biomedical research which seeks to move fundamental discoveries from the laboratory to clinical settings and ultimately, have a beneficial impact on human health.
The Luksic Grants Program awarded by Notre Dame International, provided to the Warren Center, allowed the initiation of a new interdisciplinary collaboration with Pontifical Catholic University of Chile (PUC) focused on the investigation of new leads for the rare lysosomal disorder, Niemann-Pick Type C disease (NPC). NPC is a lethal, genetic disease that effects cholesterol metabolism in children. The disease causes cholesterol and other lipids to build up, which leads to symptoms including deterioration of memory and balance, and seizures. Over the past two decades, NPC has become an important subject for research, fund-raising, and public awareness outreach efforts of our College of Science faculty and university administration. Warren Center researchers, Olaf Wiest and Paul Helquist have identified new chemical compounds that have the potential to benefit NPC patients. Independently, PUC School of Medicine researchers, Professors Silvana Zanlungo and Alejandra Alvarez have previously identified that c-Abl inhibitors, such as the leukemia drug Gleevec, improve neurological symptoms in a mouse model of NPC disease.
Through this support of the Luksic program, we were able to tap into their expertise with NPC neuronal cell lines and evaluate whether or not the compounds discovered by Notre Dame researchers could show potential synergism with c-Abl inhibitiors. Interestingly, despite the fact that each of the individual compounds improved cholesterol trafficking in neuronal cells, the compounds when given together showed no beneficial effects. Current efforts include identifying the competing biological pathways that lead to this surprising antagonistic effect and exploring another lead compound developed in my own lab.
The Luksic Grants Program allowed the initiation of a new interdisciplinary collaboration with Pontifical Catholic University of Chile (PUC) focused on the investigation of new leads for the rare lysosomal disorder, Niemann-Pick Type C disease
The Luksic scholarship not only supported the research collaboration but also enabled the attendance of the researchers at the Michael, Christa, and Marcia Parseghian Scientific Conference on Niemann-Pick Type C Research held annual in Tuscon, AZ. A poster presenting the results of this collaborative project was presented to the more than 150 attendees of the 2018 conference which included a mixture of Niemann-Pick Type C patients, families, and researchers. This initial collaboration sets the stage for the development of further translational research collaborations with PUC School of Medicine faculty in the development of new treatments for Niemann-Pick Type C disease as well as other biomedical research areas.