A team of researchers led by the University of Victoria, British Columbia, have recently identified two novel mutation sites characteristic of Gaucher Disease Type 1 (GD1). The findings, “Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous…
The biochemical responses in patients with Gaucher disease type I (GD1) treated with some selected therapeutic options have been compared in a study, “Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients,” published in Orphanet J Rare Dis. A…
The diagnostic and therapeutic approaches in children living in Iraq with Gaucher disease (GD) were recently evaluated in a study, “Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects),” published in the Pak J Med Sci. Gaucher disease is caused by a deficient enzyme…
A team of researchers recently discussed the recommended uses of the drug eliglustat in American adults suffering from Gaucher disease type 1 (GD1). These findings, “Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States,” were published…
An initial study from Japan demonstrated that oral ambroxol may help treat forms of Gaucher disease characterized by neurological symptoms. The study, “Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study,“ was published in the journal, Annals of Clinical and Translational Neurology. Ambroxol is used to treat respiratory…
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, “…
