Gaucher Disease Additional Morbidites

Introduction and Objectives

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.

Projects

Hematological and other malignancies

Members

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

Updates

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

Join

Other working groups

Gaucher Disease Diagnostic

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

Management and Monitoring

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

Laboratory

Discussing GD’s laboratory aspects, including (but not exclusively): biomarkers, biological materials, NGS technics, abnormalities other than those of the GBA gene, etc.

Supportive Care

Working on projects related to patient care that do not fall under the category of the other working groups

Ethics

Discussion of ethical questions relevant to the care of Gaucher patients throughout the world