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.
| Andrea Dardis (Chair) – | Italy |
| Paula Roszenfeld – | Argentina |
| Amber Van Baelen – | Belgium |
| Ksenija Fumic – | Croatia |
| Magy Abdelwahab – | Egypt |
| Helen Michelakakis – | Greece |
| Shoshana Revel-Vilk – | Israel |
| Francesca Carubi – | Italy |
| Maria Cappellini – | Italy |
| Eleonora Pavan – | Italy |
| Irene Motta – | Italy |
| Hans Aerts – | Netherlands |
| Marta Artola Perez – | Netherlands |
| Lukina Kira – | Russia |
| Pilar Giraldo – | Spain |
| Urh Groselj – | Slovenia |
| Maciej Machaczka – | Sweden |
| Christine Serratrice – | Switzerland |
| Ozlem Goker-Alpan – | United States |
| Jaehyeok Roh – | United States |
| Neil Weinberg – | United States |
| Andrew Auruku – | IGA |
| Tanya Collin-Histed – | IGA |
| 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.
