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The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD. Yet, in part because of the rarity of GD, but also because of a lack of awareness by physicians, diagnostic delay too often leads to a belated management of patients having accumulated comorbidities. Gaucher cells, the most visible consequence of glucocerebrosidase deficiency, have been known for many years. However, the pathophysiological mechanisms underlying some major lesions, such as bone disease, predisposition to Parkinson's disease in Type 1 GD, or neurological involvement in Type 2 and Type 3 GD, remain poorly understood. Diagnostic, therapeutic, and follow\u2010up issues associated with these symptoms remain critical to optimize the care of these patients. In this review, clinical characteristics, pathophysiology, diagnosis, treatment, and prognosis of GD are successively considered, highlighting for each of them the remaining challenges. Continued efforts to better understand pathophysiological mechanisms, use of the most modern methods such as artificial intelligence, international collaboration, and development of new therapeutic strategies seem essential for the future of this rare disease.<\/jats:p>","DOI":"10.1111\/joim.20114","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:15:01Z","timestamp":1751588101000},"page":"155-172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Gaucher disease, state of the art and perspectives"],"prefix":"10.1111","volume":"298","author":[{"given":"Fabrice","family":"Camou","sequence":"first","affiliation":[{"name":"Internal Medicine and Infectious Diseases, H\u00f4pital Haut\u2010L\u00e9v\u00eaque, Bordeaux University Hospital  Pessac France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc 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