A study by an international group of researchers in Israel, the U.S., and Germany indicates that type I interferon may contribute to Gaucher disease, specifically in a subset characterized by neuroinflammation. The report, “Induction of the type I interferon response in neurological forms of Gaucher disease,“ appeared in the…
In a study involving an Egyptian cohort of patients with neuronopathic Gaucher disease, researchers observed that patients show diverse clinical outcomes that are markedly different from those exhibited by patients in other countries. The results are summarized in a study titled “Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in…
GBA1 mutations underlying Gaucher disease are not a good prognostic factor for the likelihood of patients developing Parkinson’s disease, according to the results of the study “Clinical course and prognosis in patients with Gaucher disease and parkinsonism,” published in the journal Neurology Genetics. A small fraction…
Fatigue is a debilitating symptom of Gaucher disease (GD) patients that substantially impairs their quality of life, but is usually not clinically assessed by physicians. A new study, entitled “Rethinking fatigue in Gaucher disease,” and published in the Orphanet Journal of Rare Diseases, now…
Scientists in the Netherlands have made a discovery that may advance the treatment of the genetic disorder known as Pompe disease. Along with co-workers in England, they found a possible blocker to halt the disease’s progression, which might also aid in the development of diagnostics and treatments for Gaucher disease. The study, “…
