A noninvasive way of screening newborns for Gaucher disease, using dried blood spots, is both efficient and feasible, according to a recent Chinese study. Besides making early treatment possible so as to prevent irreversible damage, screening can provide information about the number of affected individuals in a region to inform health policy. But starting…
Researchers suggest that a compound called ambroxol should be explored in clinical trials as a potential drug for Gaucher disease. Their study in non-human primates showed that the drug increased the activity of brain glucocerebrosidase — the enzyme lacking in this disease. Since patients with Parkinson’s disease might also have mutations…
Genetic screening for Gaucher disease identifies many patients that may never experience symptoms, according to a new study, and researchers argue that the benefits of early diagnosis of potentially harmful genetic mutations outweigh the negatives. In the study, “Children with type 1 Gaucher disease: Changing profiles in the 21st century,” the…
Making lysosomes more acidic may be an ingeniously simple, yet efficient, way to prevent the consequences of lysosomal storage disorders such as Gaucher disease. And restoring acidity can be achieved with repurposed drugs that are already in use for other diseases. The discovery by researchers at the University of…
Imiglucerase (Cerezyme) has an excellent track record in treating type 1 Gaucher disease, according to a recent review that analyzed 26 years worth of publications on the topic. The study, “Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy,” was published in…
Researchers from New York University School of Medicine recently found that treating a mouse model of Gaucher disease with a key part of the protein progranulin led to marked improvement. The finding may lead to new treatments for Gaucher and other lysosomal storage diseases. The study, “Progranulin Recruits HSP70 to β-Glucocerebrosidase…
A case of a woman with Gaucher disease who was also diagnosed with systemic lupus erythematosus has raised questions about whether the two conditions may be related. But researchers behind the study, titled “Gaucher disease and Lupus: A rare association?” published in the journal Nefrologia, admit that to…
A recent review of substrate reduction therapy for Gaucher disease, by the National Health Institute Doutor Ricardo Jorge, in Portugal, explored how well the strategy performs and identifies areas of treatment improvement for Gaucher and other lysosomal storage disorders. Gaucher disease, caused by the lack of an enzyme called glucocerebrosidase, is typically managed with…
A case report by researchers at Chacha Nehru Bal Chikitsalya Hospital in India described a child with a rare type of lung involvement in Gaucher disease. The study underscored that lung damage in Gaucher patients might be irreversible, highlighting the importance of an early diagnosis. The study, “Lung lysed: A…