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.
| 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.
