gaucher disease

Gaucher disease is the most common lysosomal storage disorder, caused by glucocerebrosidase deficiency and leading to accumulation of glucocerebroside in macrophages of the liver, spleen, and bone marrow. Enzyme replacement therapy and substrate reduction therapy are established treatments that have transformed the management of type 1 disease. Research is expanding into gene therapy, with lentiviral and mRNA-based approaches in clinical development.