Conference Agenda
08:00 CET
Registration
08:50 CET
Conference Opening & Welcome
Prof. Ari Zimran, Israel | Conference Chairperson
09:00 CET
Session 1: Transforming Global Genetic Data into Medical Decisions
Moderator: Mia Horowitz, Israel
09:00 - 09:25
The Importance of a Whole Genome Workup in the World of Rare Diseases
09:25 - 09:50
PGD and NIPT for the Prevention of Rare and Ultra-Rare Diseases
09:50 - 10:15
Origins and Modifiers in Rare Diseases: Historical Perspective
10:15 - 10:30
Discussion
10:30 CET
Coffee Break, Poster Viewing & Visit the Exhibition
11:00 CET
Session 2: When a Rare Disease Meets a Common Disorder 1: Gaucher Disease and Parkinson
11:00 - 11:20
Gaucher Disease and Parkinson - Overview
11:20 - 11:40
The Science Behind the Clinical Observations
11:40 - 11:55
Revised Epidemiology of Parkinson Disease Based on Intensified Genetic Testing
11:55 - 12:10
Prodromal Features in GBA Carriers - Identifying Candidates for a PD Prevention Trial
12:10 - 12:25
Use of Ambroxol for GBA PD and non GBA PD
12:25 - 12:35
Discussion
12:35 CET
Lunch Break, Poster Viewing & Visit the Exhibition
13:30 CET
Session 3: Importance of Registries and Networking in Rare Diseases
Moderator: Nadia Belmatoug, France
13:30 - 13:50
Pharma-Sponsored Registries - The Fabry and Gaucher Experience
13:50 - 14:10
Investigator Initiated Registry - the Ambroxol
14:10 - 14:30
Governmental Sponsored Registries
14:30 - 14:50
Patients Owned Registries - the GARDIAN
14:50 - 15:00
Discussion
15:00 CET
Coffee Break, Poster Viewing & Visit the Exhibition
15:30 CET
Session 4: Novel Therapeutics for Rare Diseases 1: Gene Therapy
Moderator: Atul Mehta, UK
15:30 - 15:50
Introduction to Gene Therapy and Gene Manipulations
15:50 - 16:10
In-vivo Gene Therapy for Neuronopathic Gaucher Disease
16:10 - 16:30
Long Term Follow-up of Patients with Hemophilia Treated with Gene Therapy
16:30 - 16:50
RNA Interference (RNAi) Therapies for Rare Diseases
16:50 - 17:00
Discussion
17:00 CET
End of Day One
08:00 CET
Registration
09:00 CET
Session 5: Rare and Ultra-Rare Diseases in Different Communities
09:00 - 09:20
Rare Diseases and the Emergence of Biosimilars
09:20 - 09:40
Rare Diseases in India During the COVID-19 Pandemic
09:40 - 10:00
Rare Diseases in Georgia
10:00 - 10:20
The Story of Type 3c Gaucher Disease
10:20 - 10:30
Discussion
10:30 CET
Coffee Break, Poster Viewing & Visit the Exhibition
11:00 CET
Session 6: When a Rare Disease Meets a Common Disorder 2: Including Rare Diseases and the COVID-19 Pandemic
Moderator: Ozlem Goker Alpan, USA
11:00 - 11:20
Gaucher Disease Confers Protection Against TB
11:20 - 11:40
Rare Adverse Effects of COVID-19 Vaccinations - Myocarditis
11:40 - 12:00
Impact of the COVID-19 Pandemic on the Management of Patients with Rare Diseases
12:00 - 12:20
Machine Learning: Real-World Applications and Research Directions in Rare Diseases - Gaucher Disease as a Model
12:20 - 12:30
Discussion
12:30 CET
Lunch Break, Poster Viewing & Visit the Exhibition
13:30 CET
Session 7: Importance of Biomarkers in Rare Diseases
13:30 - 13:50
Old and New Biomarkers in Rare Diseases
13:50 - 14:10
Lyso Gb1 in Gaucher Disease - Importance in Monitoring Treated and Untreated Patients
14:10 - 14:30
Newborn Screening for Rare Diseases in Brazil
14:30 - 14:50
Newborn Screening for Rare Inherited Hematological Disorders
14:50 - 15:00
Discussion
15:00 CET
Coffee Break, Poster Viewing & Visit the Exhibition
15:30 CET
Session 8: Novel Therapeutics for Rare Diseases and the Challenge of a Rare Disease with Several Therapeutic Options
15:30 - 15:50
Green Technologies at the Service of Rare Diseases: Opportunities and Challenges of Plant Molecular Farming
15:50 - 16:10
AZ-3102: a New Oral Brain Penetrant Small Molecule under Development for GSL Storage Disorders
16:10 - 16:30
PNH: A Rapidly Expanding Landscape
16:30 - 16:50
A Case Report with a Happy End: A Type 2 Gaucher Disease Responding Dramatically to Ambroxol
16:50 - 17:00
Discussion
17:00 CET
Closing Remarks
Prof. Ari Zimran, Israel | Conference Chairperson