Conference Program

Program subject to change.


Thursday, 24 October 2019

08:00-17:00

Registration 

08:50-09:00

Welcome and Opening of the Congress
Ari Zimran, 
Shaare Zedek Medical Center, Israel

09:00-10:30

Session 1: Past Discoveries and Future Directions in LSDs
Chairperson: Mia Horowitz, Tel Aviv University, Israel

09:00-09:45

Introduction to LSDs - Basic Science
Bryan WinchesterUCL Great Ormond Street Institute of Child Health, UK

  • The role of the lysosome in cellular recycling and homeostasis
  • Concept of a lysosomal storage disease
  • Scientific basis for reliable diagnosis and potential forms of therapy

09:45-10:15

Ethical Aspects of LSDs as Rare Diseases
Rabbi Shlomo VilkRabbi of the Emek Refaim Congregation, Israel

10:15-10:30

Discussion

10:30-11:00

Networking, Coffee Break and visit the Exhibition 

11:00-12:30

Session 2: Novel Diagnostic Approaches and The Issue of Newborn Screening
ChairpersonArndt RolfsCentogene, Germany

11:00-11:25

DBS for Enzymatic Diagnosis, Gene Sequencing and Specific Biomarkers
Arndt RolfsCentogene, Germany

11:25-11:50

Improving Early Non-Invasive Pre-Natal Diagnosis Versus PGD
Gheona AltarescuShaare Zedek Medical Center, Israel

11:50-12:15

The Challenge of Newborn Screening
Shoshana Revel-VilkShaare Zedek Medical Center, Israel

  • WHO guidelines for newborn screening
  • Reported expirance of newborn screening in LSD
  • PROs and CONs of newborn screening in LSD

12:15-12:30

Discussion 

12:30-13:30

Networking, Lunch Break and visit the Exhibition 

13:30-15:00

Session 3: Gaucher Disease - The First LSD With Several Therapeutic Options
Chairperson: Hans Aerts, Leiden University, The Netherlands

13:30-13:50

The Science Behind ERT, SRT and EET
Hans Aerts, Leiden University, The Netherlands

13:50-14:10

Enzyme Replacement Therapy - 3 Decades of Success and Remaining Challenges
Shoshana Revel-VilkShaare Zedek Medical Center, Israel

  • Enzyme replacement therapy is a great success, significantly improving the outcome of patients with Gaucher disease with good safety.
  • Multicenter real-life data studies are important to increase our ability to answer ERT-related challenges in patients with GD1.

14:10-14:30

Oral Therapies - Past, Present and Future
Ari Zimran, Shaare Zedek Medical Center, Israel

14:30-14:50

Neuronopathic Gaucher Disease - The Greatest Challenge of All
Aimee DonaldManchester University NHS Foundation Trust, UK

  • The phenotypic spectrum of nGD
  • Challenges of clinical trial design 
  • Current therapeutic strategies

14:50-15:00

Discussion 

15:00-15:30

Networking, Coffee Break and visit the Exhibition

15:30-17:00

Session 4: Gaucher Disease and Parkinson: From Rare to Common Diseases
Chairperson: Ellen SidranskyNIH, USA

15:30-15:55

Clinical Aspects of GBA-Associated Parkinsonism
Ellen Sidransky
, NIH, USA

15:55-16:20

Understanding the science behind the unexpected relationship
Mia Horowitz, Tel Aviv University, Israel

16:20-16:45

Ambroxol for GBA/PD
Anthony SchapiraUCLH NHS Foundation Trust, UK

16:45-17:00

Discussion 


Friday, 25 October 2019

08:30-17:00

Registration

09:00-10:30

Session 5: Fabry Disease and NPC
Chairperson: Gheona Altarescu, Shaare Zedek Medical Center, Israel

09:00-09:40

The Complexity of Cellular Pathogenesis in Niemann-Pick Disease TypeC
Frances PlattUniversity of Oxford, UK

09:40-09:20

How to Manage Newly Diagnosed Fabry Patient in The Era of Choices
Gheona AltarescuShaare Zedek Medical Center, Israel

10:20-10:30

Discussion

10:30-11:00

Networking, Coffee Break and visit the Exhibition 

11:00-12:30

Session 6: MPS 
Chairperson: Simon JonesThe University of Manchester, UK

11:00-11:30

MPS the Many Variants
Simon JonesThe University of Manchester, UK

11:30-12:00

Innovative Methodology for A Rapid Diagnosis of LSDs Via Low Tech but Peripheral Blood Smear - Focusing on All MPS Variants
Jesus Villarrubia EspinosaHospital Universitario Ramón y Cajal, Spain

12:00-12:20


Patients' Story by A Mother of Two

Yona Darf, Israel
  • The importance of early diagnosis
  • The importance of caring for the entire family
  • Seeing the good in our new life situation - a central point in coping

12:20-12:30

Discussion

12:30-13:30

Networking, Lunch Break and visit the Exhibition

13:30-15:00

Session 7: New Treatment Approaches
Chairperson: David Begley, Kings College London, UK

13:30-13:55

iPSCs Disease Models and CRISPR/Cas Editing - The Basic Science
Olga Amaral, INSA, Portugal

13:55-14:20

AAV Based Gene Therapy for Neuronopathic Disorders
Olga Uspenskaya-Cadoz
, Prevail Therapeutics, France

14:20-14:45

Harnessing the LDL Receptor-Related Protein (LRP1/2 Receptor) To Deliver Therapy Across the Blood-Brain Barrier
David BegleyKings College London, UK

  • Receptor mediated transcytosis occurs at the BBB but it is extremely selective.
  • Endocytosis appears to be mediated exclusively by clathrin-coated pits at the BBB.
  • The LDL-receptor mediated transcytotic system could be harnessed to carry ERT and other therapeutics across the BBB.

14:45-15:00

Discussion 

15:00-15:30

Networking, Coffee Break and visit the Exhibition 

15:30-16:30

Session 8: Oral Presentations
Chairperson: Ari Zimran, Shaare Zedek Medical Center, Israel


15:30-15:42


Non-viral Gene Therapy with Sleeping Beauty Transposon Vectors in a Mouse Model of Gaucher Disease
Lacramioara Botezatu, Marta Holstein, Esther Grueso, Zoltán Ivics, Germany


15:42-15:54

Clinical Expression of GBA Mutations in Degenerative Parkinsonism
Chong S. Lee, Beom Hee Lee, Jongyeon Shin, South Korea

15:54-16:06


Genotype-Phenotype Correlation in Lysosomal Storage Diseases Detected by Newborn Screening in Mexico
Juana Ines Navarrete, David Eduardo Cervantes, Guillermo Wakida, Ana Limon, Mexico


16:06-16:18


Lyso-Gb3, Oxidative Stress and MicroRNAs in Fabry Disease
Giuseppe Cammarata
, Alessia Lo Curto, Giovanni Colombo, Paolo Colomba, Carmela Zizzo, Simona Taverna, Rosa Passantino, Maria Assunta Costa, Giovanni Duro, Italy


16:18-16:30


Targeting Molecular Chaperone HSP90 to Treat Nieman-Pick Type C1 Disease
Nina H. Pipalia
, Kanagaraj Subramanian, Abigail Cross, Kunal Garg, Aisha Al-Motawa, Frederick R. Maxfield, USA/Qatar

16:30-16:40

Closing Remarks
Mia Horowitz, Tel Aviv University, Israel