The APMRF is strengthening the expansion of novel tools to assist researchers studying NPC disease, the development of novel therapeutics for the treatment of the disease, and the identification of novel biomarkers that will be used to accelerate the therapeutic development process. We are also enthusiastic about our partnership with the International Niemann-Pick Disease Registry, and we have a current multiyear commitment to support a newborn screen to identify children with NPC disease at birth.
The 2023 Funded Grantees
Monther Abu-Remaileh, Assistant Professor, Stanford – Title: Treatment of Niemann Pick Type C1 Disease with recombinant BMP synthase
Brian Blagg, Paul Helquist, Olaf Wiest & Warren Family Research Center for Drug Discovery and Development, University of Notre Dame - Title: Design and Synthesis of Bio-organic Small Molecule Tools for Investigations of Niemann-Pick Type C Disease
Ben Calverley, The Scripps Research Institute - Title: Utilizing Artificial Intelligence to Mine Genetic Variation in the NPC1 Population for Corrective Therapeutics
Eamonn Dickson, UC Davis – Title: Target ion channels at ER-PM contact sites to slow neurodegeneration in NPC
Mike Henne, Assistant Professor, UT Southwestern – Title: Dissecting the role of SNX-RGS proteins in inter-organelle cholesterol metabolism
Xiaochun Li, Associate Professor, UT Southwestern – Title: Structural Investigations on the dynamic and regulation of human NPC1
Albert Lu, Serra Hunter tenure track lecturer, University of Barcelona - Role of SNX13 in an NPC1 bypass cholesterol egress pathway
Fred Maxfield, Professor & Chairman of Biochemistry and Cell & Developmental Biology, Cornell - Title: Systematic examination of the role of chaperones in folding the NPC1 protein
Chris Patzke, John M. and Mary Jo Boler Assistant Professor, Notre Dame – Title: Platform to Analyze Mutations Causing Niemann Pick Type C Disease in Human Neurons
Suzanne Pfeffer, Professor of Biochemistry, Stanford University - Title: Modifiers of NPC1-mediated cholesterol export from lysosomes
Rajat Rohatgi, Associate Professor, Stanford; Lipid trafficking pathways in Niemann-Pick Type C disease
Mark Schultz; Andy Lieberman, University of Iowa & University of Michigan – Title: Cellular tools for identifying proteostatic regulators for Niemann-Pick C disease
Judith Storch, Professor, Rutgers - Title: Translational Potential of LBPA for NPC disease
Charles Vite, Professor, University of Pennsylvania - Support of the NPC1 cat colony for future preclinical trials
Roberto Zoncu, Associate Professor, University of California, Berkeley - Title: Decoding cellular dysfunction in Niemann-Pick type C through functional genomics and organelle metabolomics
International Niemann-Pick Disease Registry - Title: Growing the patient-led International Niemann-Pick Disease Registry in the United States & Canada
Biomarker Initiative: Biomarker analysis with Omicera Diagnostics & collaboration with the National Institutes of Health and Rush Hospital; Title: Analysis of Patient Samples to Identify Candidate Biomarkers
Newborn Screen - Melissa Wasserstein, MD, Einstein School of Medicine - Title: Newborn Screen (ScreenPlus)