ESGLD Society

While ESGLD itself doesn’t publish large flagship discoveries, key advances by member scientists and affiliated groups include:

Mechanistic insights into lysosome biology

Researchers active in the ESGLD network have contributed to major fundamental discoveries in lysosome regulation - for example, work on transcriptional control of lysosome biogenesis by TFEB, a master regulator of lysosomal genes. This work (by member scientists like Andrea Ballabio) has reshaped how we understand lysosomal function and its role in neurodegeneration and metabolic disease.

Gene discovery and disease mechanisms

Gene discovery and disease mechanisms· ESGLD members and affiliates have helped characterize genetic bases and biochemical pathways of many lysosomal storage disorders (LSDs) - including Gaucher disease, metachromatic leukodystrophy, mucopolysaccharidoses, Pompe disease, and others — contributing to the understanding of how specific enzyme deficiencies lead to substrate accumulation and organ damage. Many such insights are regularly shared at ESGLD meetings

Translational strategies

Members of this community have been involved in developing and discussing therapeutic priorities such as enzyme replacement therapy (ERT), substrate reduction therapy, chaperone therapy, and gene therapy approaches — often presented, critiqued, and refined at ESGLD and related meetings. For example: Early enzyme replacement and substrate reduction therapies for Gaucher disease and related LSDs were pioneered by scientists active in European research networks closely linked to ESGLD member labs. Research strategies sharing animal models, biomarkers, and clinical outcomes in workshops have helped optimize timing and biomarkers for therapy evaluation across multiple LSDs.