The current EWGGD-WGs list has been constructed to avoid the generation of too many small WGs. Boarder topics have been chosen in which sub-groups can work on particular aspects of the theme. Some sub-groups topics may, if applicable, develop to become a stand-alone WGs. Please refer to the EWGGD Working Group policy for further information.

You are invited to join one or more working groups; please join by completing the form in the relevant working group below.


The working group discusses GD’s laboratory aspects, including (but not exclusively): biomarkers, biological materials, NGS technics, abnormalities other than those of the GBA gene, etc. The working group will develop standardization, protocols and research activities, with periodic interaction with clinical WGs.

Standardise materials and biomarkers assays relating to Gaucher diagnosis in our laboratories. The chosen strategy implies the blind analysis of a series of the same samples from GD patients and from controls by the different partner laboratories, then to compare the techniques used and the procedures for rendering results in order to develop homogeneous procedures, and then to re-analyse the same series of samples in order to evaluate the effect of the homogenisation of the techniques

Hans Aerts (Chair)                                         Netherlands

Marc Berger (Chair)                                      France

Maria Blomqvist                                            Sweden

Andrea Dardis                                               Italy

François Eyskens                                         Belgium

Ksenija Fumić                                               Croatia

Simon Heales                                                UK

Martin Hrebicek                                            Czech Republic

Lucia Lacerda                                               Portugal

Laura Lopes de Frutos                                  Spain

Eugen Mengel                                               Germany

Helen Michelakakis                                       Greece

Shoshana Revel-Vilk                                     Israel

Anna Tylki-Szymanska                                  Poland

Two surveys sent to biologists have made it possible to identify the laboratories carrying out the analysis of 1, 2, or 3 Gaucher disease biomarkers, and to identify the referents and contacts for this work and for the centralized shipment of samples from the French biological collection of patients with Gaucher disease.

The choice of the shipping company has just been validated. The contracting is in progress for a shipment of samples during the summer of 2021.

The analyses will be performed in September-October for a report in November.


The group discusses technical and ethical issues associated with the diagnostic process of Gaucher disease, including biochemical and molecular diagnosis, newborn screening, IA, and other diagnostic techniques (imaging, molecular diagnosis, biomarkers, etc.). The aim is to develop protocols and evidence-based recommendations to best meet the patients’ needs, ensuring timely and accurate diagnosis.

  • Clinical signs and symptoms leading to suspect GD diagnosis
  • Laboratory diagnosis
  • Newborn screening

Magy Abdelwahab                            Egypt

Hans Aerts                                        Netherlands

Maria Cappellini                               Italy

Tanya Collin-Histed                          IGA

Andrea Dardis (Chair)                       Italy

Ksenija Fumic                                   Croatia

Urh Groselj                                        Slovenia

Lukina Kira                                        Russia

Maciej Machaczka                             Sweden

Helen Michelakakis                            Greece

Paula Roszenfeld                               Argentina

Jasenka Wagner                                IGA

The group has been working on four topics; (i) clinical signs and symptoms leading to suspect GD diagnosis (ii) GD Biomarkers, (iii) enzymatic activity and (iv) genetic testing. Members have been divided in sub-groups and each one has been working on a specific topic: gathering evidence, formulating evidence-based recommendations, and drafting an evidence-based consensus document using a template recently adopted by the board.


The group will create guidelines for the management and monitoring of GD which can be used internationally to improve experience and outcomes for Gaucher patients


  1. To improve access to treatment for all patients
  2. To reduce health inequalities for GD patients
  3. To produce guidelines based in available evidence
  4. To define evidence gaps and a plan for research in relation to gaps
  5. To create international consensus based in evidence
  6. To publish guidelines rapidly in an easily accessible open access format
  7. To simultaneously publish a patient- accessible version of the guidelines
  8. To publish guidelines in a peer reviewed journal as appropriate

The aim of the adopted methodology is to define the critical needs for guideline statements, to review currently available evidence and to build consensus around statements to ensure wide adoption. The group will understand the need for guidelines to specific problems in the management of Gaucher Disease through surveying our members and affiliated stakeholders. We will then use a synthesis of evidence and consensus to create recommendations which address this need. Areas to be addressed include the use of specific therapies for Gaucher disease in adult and children with both non-neuronopathic and neuronopathic GD. All guidelines will be per reviewed and presented on the EWGGD website

Guidelines for the treatment and monitoring of GD1

Magy Abdelwahab                            Egypt

Magdalena Ceron Rodriguez             Mexico

Michaela Dan                                    France

Paul Guijt                                           IGA

Pilar Giraldo                                      Spain

Derralyn Hughes (Chair)                   United Kingdom

Istaiti Majdolen                                  Israel

Kartha Reena                                    USA

Andreas Kindmark                            Sweden

Rodic Predrag                                   Serbia

Ari Zimran                                         Israel

The group has been working on understanding what is most important from our members, colleagues and patients for a guideline. We have been considering the methodology for gathering evidence and creating evidence-based consensus for the various management issues


The additional morbidities working group has first discussed extensively that we should move away from “complications’ or ‘co-morbidities’ and define the occurrence of disorders that can be related or unrelated to GD as “additional morbidities”. Next, different topics were discussed that could be prioritized. These include, amongst others, malignancies, bone disease, Parkinson’s disease, metabolic syndrome and fatigue.

Hematological and other malignancies

Hagit Baris Feldman                          Israel

Maria Camprodon                              Spain

Margaret Giuliani                               IGA

Carla Hollak (Chair)                           Netherlands

Ivana Kavecan                                   Serbia

Patricia Lucki                                      IGA

Eugen Mengel                                    Germany

David Moreno Martinez                      United Kingdom

Uma Ramaswami (Chair)                   United Kingdom

Thomas Stulnig                                  Austria

Neal Weinreb                                     United States

The first project that we focus on is: “Hematological and other malignancies”. We hope to produce a first draft of the consensus document which describes the epidemiology with practical guidelines for surveillance


The supportive care working group works on projects related to patient care that do not fall under the category of the other working groups. The aim is to develop patient-centric guidelines.

  • Supportive and symptomatic care, focusing on adults, children, and women-related issues for type 1 and neuronopathic GD
  • The transition of care from childhood to adulthood and care coordination
  • Patients reported measurement outcomes (PROMs)
  • Self-management
  • Home therapy

Magy Abdelwahab                                       Egypt

Vesna Aleksovska                                         IGA

Nadia Belmatoug                                          France

Francesca Carubbi                                        Italy

Daniela Castillo-García                                 Mexico

Tanya Collin-Histed                                      IGA

Paul Guijt                                                      IGA

Beata Kieć-Wilk                                            Poland

Uma Ramaswami                                         United Kingdom

Shoshana Revel-Vilk (Chair)                         Israel

Christine Serratrice                                       Switzerland

Karolina M Stepien                                       United Kingdom

Irena Znidar                                                   IGA

The EWGDD Gaucher supportive care working group have been working on four related topics; the first is supportive and symptomatic care, focusing on adults, children, and women-related issues, the second is the transition of care from childhood to adulthood and care coordination, the third is patients reported measurement outcomes (PROMs), and the fourth is self-management. Each subgroup is working on writing a guidelines document using a template recently adopted by the board


The ethics groups will arrange discussion of ethical questions relevant to the care of Gaucher patients throughout the world. A Preliminary meeting between the IGA and EWGGD boards occurred. Anyone interested should get in touch with Derralynn or Tanya and we will be providing further information on the program of talks and discussions later in the year.

Information to come

Information to come

Information to come

Information to come