Annual Conference

2023 Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research

Basic, translational, and clinical research towards a greater understanding and a cure for Niemann-Pick Type C disease.

June 10-13, 2023

2023 Conference

June 10 - 13, 2023
Westin La Paloma
Tucson, AZ

Parseghian Family

About the Conference

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

2022 Conference Speakers

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


2023 Tentative Conference Schedule

Saturday, June 10, 2023

12:00 - 2:00 pm


2:00 - 5:00 pm


5:00 - 7:00 pm

Welcome reception and dinner

Sunday, June 11, 2023

8am - 2:30pm


5:00 - 6:30 pm

Poster Session

6:30 pm


Monday, June 12, 2023

8am - 3pm


5:00 - 6:30 pm

Poster Session

6:30 pm

Closing Dinner

Tuesday, June 13, 2023




Conference ends

Register for the conference

Registration is not open for the 2023 Conference