sunday, November 20
CME-Up to 6.75 AMA PRA CATEGORY 1 credits for full participation
08:00-09:00 Registrar / Breakfast
Welcome and opening remarks
Pathophysiology of neurological manifestations in Gaucher disease and treatment strategies
Phenotypic spectra of neuronopathic Gaucher disease variants
Raphael Schiffmann, M.D.
Gregory Grabowski, M.D.
Clinical management in neuronopathic Gaucher disease
Ashok Vellodi, M.D.
Chaperone therapy for neurological involvement in Gaucher disease: Japanese experience
Aya Narita, M.D.
12:30-01:15 Lunch Break
Gaucher disease and Parkinsonism, the past two decades
Ari Zimran, M.D.
David Arkadir, M.D., PhD.
Prodromal Parkinson disease in patients and carriers of Gaucher disease
Long term follow up of patients with Gaucher disease and parkinsonism
Grisel Lopez, M.D.
03:45-04:00 Coffee Break
Molecular Mechanisms underlying the association between Gaucher and Parkinson disease
Mia Horowitz, PhD.
Ellen Sidransky, MD
New horizons for Gaucher disease and parkinsonism
05:30-06:00 Conclusion of Day 1
monday, november 21
Day 2 Introduction
Advocacy in Rare Diseases landscapes
Carrie Ostrea, Little Miss Hannah Foundation
Margarita Ivanova, PhD.
Lysosomal function in Gaucher disease
Renuka Limgala, PhD.
Biomarkers in Gaucher/Parkinson diseases
Is neonatal screening an early diagnosis strategy for Gaucher Disease? Round table discussion
Moderator: Ozlem Goker-Alpan, M.D.
12:00-12:30 Lunch BREAK
Case presentations and Gaucher Disease Clinic
12:30 - 05:30
Agenda may subject to change