Congress Program

Monday, 2 July 2018

08:00-17:00

Registration 

08:50-09:00

Welcome and Opening of the Congress
Ari Zimran, Israel

09:00-10:45

Session 1:
Challenges in Rare Diseases I
Chairperson: Atul Mehta, UK and Tanya Histed Collins, UK

09:00-09:20


The Physician Perspective
                               
Atul Mehta, UK 
  • Collectively, Rare diseases affect 350 million people in the World
  • Many rare diseases are treatable; Delay in Diagnosis leads to poor outcome
  • Cost effectiveness criteria for Rare diseases differ from those for more common conditions

09:20-09:35


Patients’ Perspectives
Tanya Collin-Histed, UK
  • Despite 5 licensed products for the visceral manifestations of Gaucher disease, there remains huge unmet needs in finding a treatment for the neurological aspects of the disease.
  • Conducting a clinical trial in neuronopathic Gaucher disease is an ongoing challenge; identifying the right end points, with a limited timeframe and a heterogeneous population?
  • Should we be looking at different treatment possibilities in those countries that are not able to pay for treatment?

09:35-09:50

Scientist’s Perspectives
Mia Horowitz, Israel

09:50-10:05


Manufacturer’s  Perspectives
Zeev Zelig, CEO, Zeev Zelig Life Sciences Strategic Consulting LTD, Israel
  • Are states responsible for developing medication for their citizens ?
  • Pharma Industry – Partners or … ?
  • New models of partnership with Pharma Industry

10:05-10:20


The European Regulator’s Perspective
Elin Haf Davies, Founder & CEO, Aparito, UK 
  • Medicines Adaptive Pathways 
  • EMA Qualifications 
  • Stakeholder engagement 

10:20-10:45

Discussion 

10:45-11:15

Networking, Coffee Break and visit the Exhibition 

11:15 -12:45

Session 2:
Lysosomal Storage Disorders as a Model , Part I –
Biochemistry and Genetics
Chairperson: Mia Horowitz, Israel and Derralynn Hughes, UK 

11:15-11:35


Lysosomes and Lysosomal Storage Disorders
Bryan Winchester, UCL Great Ormond Street Institute of Child HealthUK 
  • The role of the lysosome in cellular recycling and homeostasis
  • Concept of a lysosomal storage disease
  • Potential forms of therapy for lysosomal storage diseases

11:35-11:55

Newborn Screening
Shoshana Revel-Vilk, Israel 

11:55-12:15

Non-Invasive Prenatal Genetic Diagnosis
Gheona  Altarescu, Israel 

12:15-12:35

Role of Biomarkers 
Arndt Rolfs, CEO, Centogene AG, Germany 

12:35-12:45

Discussion 

12:45-13:30

Networking, Lunch Break and visit the Exhibition 

13:30-15:00

Session 3:
Lysosomal Storage Disorders as a Model , Part II –
Specific Diseases and Therapeutic Options
Chairperson: Ozlem Goker-Alpan, USA and Ari Zimran, Israel

13:30-13:50

Gaucher Disease: ERT, SRT and EET                     
Derralynn Hughes, Clinical Director of Haematology, Oncology and Palliative Care and Lead Cancer Physician, Royal Free Hospital, University College London, UK

13:50-14:10


Fabry Disease: ERT, SRT and EET
Atul Mehta, UK 
  • Overview of results of ERT for Fabry disease
  • Prospects for substrate reduction therapy for Fabry disease
  • Overview of chaperone therapy for Fabry disease

14:10-14:30

MPS - A Family of Disorders with Different Therapies
Simon Jones, UK 

14:30-14:50

What is New in NPC
Arndt RolfsCEO, Centogene AG, Germany

14:50-15:00

Discussion 

15:00-15:30

 Networking, Coffee Break and visit the Exhibition

15:30-17:00

Session 4:
New Therapies – The Future is Here
Chairperson: TBC

15:30-15:55

Gene Therapy in Hemophilia
Anthony K C Chan, 
Canada              

15:55-16:20

Ex vivo Gene Therapy: In Human Trials in Fabry Disease
Shari Fallet
, Fabry Clinical Lead, AVROBIO, USA

16:20-16:45

In vivo Gene Therapy for Neuronopathic Disorders
Asa Abeliovitch
, USA

16:45-17:00

Discussion

17:00

End of Day 1

Tuesday, 3 July 2018

08:00-16:30

Registration

08:30-10:00

Session 6:
Rare Disease – Generic Topics
Chairperson: Uma Ramaswami, UK and Gheona Altarescu, Israel

08:30-08:50


Transfer from Children Hospital to Adult Care in Rare Diseases
Uma Ramaswami, UK 
  • Transition age and best practice
  • Transition Challenges
  • UK rare disease strategy 2013 and Transition

08:50-09:10

IOS – A New Process for Identifying Rare Diseases
Oral AlpanUSA 

09:10-09:30

A Mechanistic Approach to Recognize and Manage Rare Disorders
Ozlem Goker-Alpan, USA

09:30-09:50

Role of Registries
Ari Zimran, Israel 

09:50-10:00

Discussion 

10:00-10:30

Networking, Coffee Break and visit the Exhibition 

10:30-12:00

Session 7:
Rare Diseases in Hematology
Chairperson: Anthony K C Chan, Canada and Shoshana Revel-Vilk, Israel

10:30-10:50

PNH
Jeff Szer, Australia

10:50-11:10


WHIM Syndrome
Tarek  Ebrahim, USA 
  • WHIM syndrome - overview and diagnosis
  • Phase 2 Study of X4P-001: A Targeted Oral Therapy for Patients with WHIM Syndrome

11:10-11:30


Disorders of Platelet Dysfunction
Suthesh Sivapalaratnam, UK 
  • Overview of clinical manifestation of rare platelet disorders 
  • Diagnosis of rare platelet disorders
  • The Thrombogenomics platform

11:30-11:50


Familial Erythrocytosis
Holger Cario, Germany 
  • Overview on different types of congenital/familial erythrocytosis
  • Current algorithm in patients with presumed congenital erythrocytosis
  • Selected cases to illustrate the need for further development of diagnostic tolls

11:50-12:00

Discussion

12:00-13:00

Networking, Lunch Break and visit the Exhibition

13:00-15:00

Session 8:
Rare diseases in Neurology
Chairperson: Arndt Rolfs, Germany and David Arkadir, Israel

13:00-13:35


FAP - Familial Amyloidosis and Polyneuropathy

Arndt Rolfs, CEO, Centogene AG, Germany

13:35-14:00


Prion Diseases as a Model of Neurodegeneration
Robert Will, Professor of Clinical Neurology, University of Edinburgh, UK 
  • Prion diseases are caused by a self-replicating host-encoded protein
  • Other neurodegenerative diseases may share a similar pathogenic mechanism
  • Observational and laboratory studies suggest that proteins in neurodegenerative disease may be transmissible

14:00-14:25


Insights into Cortical Plasticity from Optic Neuritis
Ahmed Toosy, UK

 14:25-14:50
What Gaucher Disease Teaches us about Parkinson's
David Arkadir, Israel 

14:50-15:00

Discussion

15:00-15:30

Networking, Coffee Break and visit the Exhibition 

15:30-17:00

Session 9:
Rare diseases in Nephrology
Chairperson: Yaacov Frishberg, Israel and Jeff Szer, Australia

15:30-16:00


Cystinosis
Francesco EmmaItaly 
  • Overview of cystinosis
  • Treatment
  • Long-term prognosis

16:00-16:30


Atypical Hemolytic Uremic Syndrome (aHUS)
Martin Bitzan, Canada

16:30-16:50

Primary Hyperoxaluria Type 1
Yaacov Frishberg, Israel

  • Currently, the only curative option in treating children with PH1 who progress to ESRD, is combined liver-kidney transplantation
  • Emetine, a mild translation inhibitor, can re-route AGT from the mitochondria into the peroxisome and rescue its activity in a cell-culture model.
  • Substrate reduction by siRNA directed to HAO1 encoding glycolate reductase (GO), the enzyme that catalyzes the production of glyoxylate, the immediate precursor of oxalate is a promising therapeutic for PH1.

16:50-17:00

 Congress Closing Remarks

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