Date & Venue
Last updated: June 18th, 2016


English is the official language of the Symposium.

Final Scientific Program at a Glance

Thursday, June 30th, 2016

08:00-09:30 Session 1: Opening session
Chairs: Pilar Giraldo, Stephan vom Dahl
08:00-08:30 Welcome and obituaries

Invited lecture: Genetic aspects of GD

Jack Goldblatt (Australia)

09:10 - 09:50 Session 2: Gaucher disease, iron and inflammation
Chairs: Pilar Giraldo, Stephan vom Dahl

Invited lecture: Iron in GD

Maria Domenica Cappellini (Italy)
09:50-10:20 Coffee break
10:20-11:40 Session 2: Gaucher disease, iron and inflammation
Chairs: Pilar Giraldo, Stephan vom Dahl

Oral presentations

  • Cellular models for monocyte/macrophage studies
  • José Antonio Sánchez Alcázar (Spain)
  • Hyperferritinemia and serum inflammatory cytokines in adult patients with Gaucher disease type 1
  • Maciej Machaczka (Sweden)
  • “Fishing” new molecular targets to gain further insights into the molecular pathogenesis of bone alterations in Type I Gaucher disease (GD1)
  • Enrico Moro (Italy)
  • Deficiency of monocyte/macrophage KCa3.1-functions in type-1/3 Gaucher disease
  • Aida Olivan (Spain)
    11:40-12:40 POSTER Tour I
    Chair: Argiris Symeonidis, Andrea Dardis
    12:40-13:30 Lunch

    13:30-15:15 Session 3: Pathophysiology
    Chairs: Lluisa Vilageliu, Ellen Sidransky

    Oral presentations

  • The fruit fly Drosophila melanogaster as a model system to study Gaucher disease
  • Or Cabasso (Israel)
  • The contribution of mutant gcase to the aggregation and accumulation of α-synuclein / The contribution of mutant GBA to the development of Parkinson’s disease in Drosophila
  • Gali Maor (Israel)
  • Patient-derived iPSC provide insights into pathophysiology of Gaucher disease
  • Ricardo Feldman (USA)
  • The role of mTor and autophagy in lysosomal storage disease: prospective for therapeutics
  • Suleiman Igdoura (Canada)
  • Generation of mesenchymal and osteoblastic cellular models for Gaucher disease using human induced pluripotent stem cells
  • Jenny Serra-Vinardell (Spain)
    15:15-15:30 Coffee break

    15:30-17:30 Educational Session
    Chair: Pramod Mistry

    Oral presentations

  • Diagnosis and typical/atypical manifestations of GD1
  • Pramod Mistry (USA)
  • Biomarkers
  • Pilar Giraldo (Spain)
  • Neuronopathic GD
  • Eugen Mengel (Germany)
  • Evolving therapeutic landscape in GD
  • Hanna Rosembaum (Israel)
    17:30-19:00 Business meeting (Members EWGGD)

    Friday, July 1st, 2016

    08:00-09:45 Session 4: Diagnosis and monitoring
    Chairs: Ari Zimran, Pramod Mistry

    Invited lecture: Gene therapy

    Stephan Karlsson (Sweden)

    Oral presentations

  • Proof-of-principle: rapid noninvasive prenatal diagnosis for type 1 Gaucher disease
  • Gheona Altarescu (Israel)
  • Children with type 1 Gaucher disease: changing profiles in the 21st century / Growth parameters in pediatric patients with Gaucher disease: 15-year follow-up from one Israeli clinic
  • Pramod Mistry (USA)
  • Benign and malignant hematological complications of Gaucher disease: diagnosis, monitoring and treatment
  • Hanna Rosenbaum (Israel)
    09:45-10:05 Coffee break
    10:05-11:05 Session 4: Diagnosis and monitoring
    Chairs: Ari Zimran, Pramod Mistry

    Oral presentations

  • Management goals for type 1 Gaucher disease: a consensus document from the European Working Group on Gaucher Disease
  • Marieke Biegstraaten (The Netherlands)
  • Revised Belgian guidelines for the diagnosis, treatment and monitoring of Gaucher’s disease
  • François Eyskens (Belgium)
  • Lyso-Gb1 as a Gaucher-specific biomarker: data from clinical trials using velaglucerase alfa
  • Deborah Elstein (Israel)

    11:05-12:05 Session 5: Treatment
    Chairs: Gregory Pastores, Maja di Rocco

    Oral presentations

  • In vivo cellular pathways for infused human recombinant glucocerebrosidase
  • Margarita Ivanova (USA)
  • Intravenously administered gene therapy for the treatment of neuronopathic Gaucher disease
  • Giulia Massaro (UK)
  • Long-term safety and efficacy of Taliglucerase Alfa in Pediatric Patients with Gaucher Disease Who Were Treatment-naïve or Previously Treated with Imiglucerase / Long-term efficacy and safety results of Taliglucerase alfa through 5 years in adult treatment-naïve patients with Gaucher disease
  • Ari Zimran (Israel)
    12:05-13:00 Lunch
    13:00-13:45 POSTER Tour II
    Chairs: Maciej Machaczka, Hanna Rosenbaum
    13:45-15:05 Session 5: Treatment
    Chairs: Gregory Pastores, Maja di Rocco

    Invited lecture: Treatment options in 2016: clinical view/a proposal for an algorithm

    Carla Hollak (The Netherlands)

    Oral presentations

  • CNS-accessible inhibitor of glucosylceramide synthase for substrate reduction therapy of neuronopathic Gaucher disease
  • John Marshall (USA)
  • Four-year follow-up from the ENCORE trial: oral eliglustat in patients with Gaucher disease type 1 stabilized on enzyme therapy
  • Ozlem Goker-Alpan (USA)
    15:05-15:20 Coffee break
    15:20 -16:20 Session 5: Treatment
    Chairs: Gregory Pastores, Maja di Rocco

    Oral presentations

  • Transformation in pre-treatment presentations of Gaucher disease in first 2 decades of Imiglucerase enzyme replacement therapy: report from the international collaborative Gaucher group Gaucher Registry
  • Pramod Mistry (USA)
  • Development of a new therapeutic strategy for Gaucher disease (GD) using ex vivo targeted genome editing
  • Andrea Dardis (Italy)
  • pH-sensitive glucocerebrosidase ligands as non-inhibitory pharmacological chaperones for Gaucher disease
  • José M. García Fernández (Spain)

    16:20-18:00 Session 6: Humanitarian Aid Session
    Chairs: Pascal Niemeyer, Carla Hollak

    Oral presentations

  • EGA Updates
  • Pascal Niemeyer (EGA)
  • The EGA’s role in supporting the growing unmet need of Gaucher patients globally that cannot access treatment in their own country
  • Tanya Collin-Histed (EGA)
  • Working within the Governments capabilities to support Gaucher patients in Pakistan; an alternative strategy
  • Huma Cheema (Pakistan)
  • Managing the symptoms of Gaucher patients without access to ERT in India
  • Sujatha Jagadeesh (India)
  • A practical experience of dealing with two siblings from Jordan & the German experience of managing refugees with Gaucher disease in Germany with Gaucher Disease
  • Jörg Reinke (Germany)
    17:50-18:00 Questions & Answers

    Saturday, July 2nd, 2016

    08:00-10:40 Session 7: Parkinson disease
    Chairs: Ozlem Goker-Alpan, Marieke Biegstraaten

    Invited lecture: Molecular mechanisms underlying the association between Gaucher disease and Parkinson disease

    Mia Horowitz (Israel)

    Oral presentations

  • Glucosylceramide synthase inhibition reduces alpha-Synuclein pathology and improves cognition in murine models of synucleinopathy
  • S. Pablo Sardi (USA)
  • GBA1 haploinsufficiency in a Parkinson mouse model results in an earlier disease onset and more rapid progression of symptoms
  • Nahid Tayebi (USA)
  • Processing of alpha-Synuclein and Parkin in peripheral blood mononuclear cells in patients with Gaucher disease
  • Renuka Pudi Limgala (USA)
  • Studying the link between Gaucher and Parkinson’s Disease. Cell models and disease-modifying factors
  • Derek Burke (UK)
  • Glucocerebrosidase variants ARE modifiers for onset and clinical symptoms in Parkinson disease patients – a multinational study of GBA gene sequences using Next Generation Sequencing (NGS)
  • Rike Bender (Germany)
  • Unbiased approach reveals higher risk for PD in carriers of severe vs mild GBA mutations
  • David Arkadir (Israel)
    10:40-11:00 Coffee break

    11:00 -13:20 Session 8: Bone disease
    Chairs: Mercedes Roca, Paula Rozenfeld
    11:00- 11:40

    Invited lecture: Genetic of osteoporosis

    Nerea Alonso Lopez (UK)

    Oral presentations

  • Measurement of bone marrow fat fraction with gradient-echo MR imaging in Gaucher disease patients; a practical alternative to Dixon quantitative chemical shift imaging
  • Martine Regenboog (The Netherlands)
  • Osteocyte alterations contribute to bone pathology in Gaucher disease
  • Juan Marco Mucci (Argentina)
  • Effect of two different therapeutic interventions: SRT in comparison to ERT on immune aspects and bone involvement in Gaucher disease
  • Renuka Pudi Limgala (USA)
  • Risk factors for fractures in Imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher registry
  • Stephan vom Dahl (Germany)

    13:00-13:30 Summary, Poster prizes,, “EGA young doctor Award” and Invitation to the next EWGGD meeting
    13:45 End of the meeting

      12th EWWGD meeting - Zaragoza, June 29th- July 2nd 2016 Legal warning       Privacy policy