The annual conference will include sessions on NPC1 structure and function, autophagy, cholesterol trafficking, lysosomal biology, therapeutics, gene therapy, biomarkers, and newborn screening. There will also be multiple breakout sessions.

*Please note that this is an invite only conference.  If you wish to be added to the invite list please contact Sean Kassen at skassen@nd.edu.

Keynote Presentation: Robert Farese; The Brain – A New Frontier of Lipid Metabolism

Session #1                  Lysosomal Biology and Cholesterol Trafficking

Roberto Zoncu; Dissecting Lysosomal Cholesterol Signaling in Niemann-Pick type C
HY Yang; Phosphatidylserine homeostasis and cholesterol trafficking
Mike Henne; Dissecting the roles of SNX-RGS proteins in inter-organelle tethering and lipid metabolism
Suzanne Pfeffer; Cholesterol export from lysosomes: SNX13-membrane contacts bypass NPC1 function

Session #2                  Cholesterol trafficking and signaling

Fred Maxfield; Testing chaperone modulation in NPC1 mutant cell lines
Judith Storch; Can the atypical phospholipid lysobisphosphatidic acid (LBPA) be used therapeutically in NPC disease?
Daniel Wustner; Direct observation of post-lysosomal trafficking of LDL-derived cholesterol using a novel fluorescent cholesteryl ester
Hijai Regina Shin; How lysosomal cholesterol sensing mechanism translates to mTORC1 signaling
Junghoon Lee; Soat1/Acat1 blockade to ameliorate lipid storage defects in a mouse model of Niemann-Pick Type C disease
Kevin Vaughan; A Novel Two-pronged Approach to Treatment of NPC Disease

Session #3; Novel therapeutics and approaches

Charles Vite; Gene therapy and cerebrocortical pathology in Niemann-Pick disease type C1 cats
Alison Ondrus; Druggable opportunities at the NPC1-TMEM97 interface
Olaf Wiest; Small molecule approaches for investigations of Niemann-Pick Type C Disease
Paulina Ordonez; Novel cell-based human models for the study of Niemann Pick C1
Nan Yan; Targeting the STING pathway to treat Niemann-Pick disease type C

Session #4                  Biomarkers, Patient Data and Characterization

Kivanc Birsoy; Understanding the role of lysosomal acidity in mammalian cell proliferation
Melissa Wasserstein; Recruitment and Engagement in ScreenPlus Pilot Newborn Screening: An evaluation of the first nine months of implementation
Jackie Imrie and Conan Donnelly ; INPDR - Progress of the International Niemann-Pick Disease Registry in North America
Denny Porter;  Evaluation of Cerebral Spinal Fluid Biomarkers in Niemann-Pick Disease, type C1 
Xuntian Jiang; Lyso-Platelet Activator Factors as CNS Biomarkers for NPC
Stephanie Cologna; Differential CSF Proteins in NPC1 Patients on VTS-270
Maria Teresa Fiorenza; The appearance of phagocytic microglia in the cerebellum and olfactory bulb of Niemann Pick type C mice is developmentally-regulated and underscores shortfalls in fine odor discrimination
Frank Pfrieger; Exploring causes of neuronal vulnerability, new biomarkers and new therapeutic targets in NPC1 disease - a progress report
Bill Balch; Using AI to Understand and Treat NPC1 Disease

Session #5                  NPC therapy development

Marc Patterson; Evaluation of the long-term effect of arimoclomol in NPC                      
Elizabeth Berry-Kravis;  Adrabetadex EAP update Long-term Open Label Treatment of Neurological Symptoms in Niemann-Pick Type C1 with Intrathecal Adrabetadex Through Expanded Access in a Cohort of 60 Patients                  
Sebastian Nijman (15+5) Scenic Genetic modifiers for NPC disease
Jake Hostetler; Biographene-Graphene Quantum Dots as a Therapeutic Candidate in Niemann-Pick Disease Type C
Kyle Landskroner- Azafaros; Characterization of AZ-3102, a novel brain-penetrant small molecule, in the Niemann-Pick type C mouse model