Topic: Gaucher Disease: From Pathogenesis to Precision Care

Gaucher disease is a rare inherited lysosomal storage disorder with a broad spectrum of clinical manifestations and considerable variability in disease severity and progression. Although major advances have been made in understanding the disease and developing effective treatments, important questions remain regarding its pathophysiology, clinical heterogeneity, long-term complications, comorbidities, and optimal management.

The introduction of enzyme replacement therapy and substrate reduction therapy has substantially improved outcomes for patients with Gaucher disease. More recently, advances in genetics, biomarkers, and our understanding of disease mechanisms have opened new opportunities for earlier diagnosis, individualized treatment, and improved monitoring. At the same time, increasing attention is being given to complications that are not fully addressed by current therapies, including bone disease, neurological manifestations, Parkinson disease, and hematological malignancies. As patients live longer, understanding comorbidities and age-related health conditions has also become increasingly important.

This Special Issue aims to present recent research on Gaucher disease, covering basic, translational, and clinical aspects. Topics of interest include disease mechanisms, genotype–phenotype relationships, diagnostic approaches, biomarkers, hematological and skeletal manifestations, neurological complications, comorbidities, emerging treatments, and long-term outcomes.

We particularly welcome studies using real-world data, patient registries, and longitudinal follow-up to improve our understanding of disease progression and treatment outcomes. Research addressing quality of life, supportive care, and the needs of patients across different ages and stages of life is also encouraged.

The goal of this Special Issue is to bring together research that can contribute to a better understanding of Gaucher disease and improve patient care.