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.
