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 Swedish group of Gaucher patients showed clinical features never previously reported in this disease — a rapid and repetitive dystonia-like hyperkinetic movement disorder that may be unique to this group of people, researchers reported. The study, “Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients,” was published in…
An artificial version of the protein progranulin could reverse most cellular defects found in Gaucher disease, according to study led by researchers at NYU Langone Medical Center. Gaucher disease (GD), a rare condition characterized by the inability of cells to break down fats, presents many symptoms including enlarged spleen and liver, blood disorders, joint…
A team of researchers from Peking Union Medical College Hospital in Beijing, China reported the rare case of patient diagnosed with Gaucher Disease who developed mesenteric lymphadenopathy, or an inflammation of the lymph nodes in the membrane that connects the bowel to the abdominal wall.
Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to follow the temporal evolution of neurobehavioral dysfunctions and brain pathology triggered by GD. The study “Progression of Behavioral and…
Patients with type 1 Gaucher disease being treated with VPRIV (velaglucerase alfa) can safely transition to Cerdelga (eliglustat) or Cerezyme (imiglucerase) and maintain clinical stability, according to a new study that draws on data from the ENCORE trial. The study, “Stability Is Maintained In Adults With Gaucher Disease Type 1 Switched From…
Targeting mitochondrial dysfunction and the improper production of glucocerebrosidase, the faulty protein in Gaucher disease (GD), may be a promising therapeutic approach for the treatment of neurological symptoms associated with GD, according to a new study. The study, “Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in…
Researchers have identified a new marker present in the blood of type 1 Gaucher disease (GD) patients that can potentially be used in disease diagnosis and progression, according to a study published in the journal FEBS Open Bio. The study, “Elevation Of Glycoprotein Nonmetastatic Melanoma Protein…
Researchers in the U.S. identified a novel small molecule that is able to effectively reduce the manifestation of Gaucher Disease in a mouse model of the condition. According to the researchers, the molecule called Genz-682452 “holds promise as a potential therapeutic approach for patients with type-3 [Gaucher Disease]”
Researchers are exploring the use of next-generation sequencing (NGS), a technique used to analyze genes and find mutations, as a way to diagnosis Gaucher disease (GD) in a fetus. Prenatal disease screening using NGS has the potential to be used as a secondary diagnostic option for lysosomal diseases, and researchers…
