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…
A potential clinical biomarker — a measurable disease indicator in the blood or tissues — for Gaucher disease (GD) may have been identified in a recent study. The study, “Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models,” was a collaborative effort among researchers…
Dantrolene could be a new therapeutic agent to improve neurological function and disease symptoms in neuropathic Gaucher disease (nGD), according to a collaborative research study developed on a mice model and led by Cincinnati Children’s Hospital Medical Center. The study, “Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in…
Researchers from Cincinnati Children’s Hospital Medical Center in Ohio described in detail the brain and behavioral abnormalities of a mouse model of chronic neuronopathic Gaucher disease. This information is invaluable and can be used for experimental designs to evaluate novel therapies for the disease in the future.
A new study identified a group of genes that may be involved in the development and severity of Gaucher disease. Researcher also found that memantine, a drug used in the treatment of Alzheimer’s disease, increased the life span of animal models with Gaucher disease (GD). The study, titled “Identification of…
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…
Levels of a protein called progranulin (PGRN) are significantly lower in the blood of Gaucher disease (GD) patients compared to the general public according to a study conducted by a team of international researchers and led by Dr. Chuan-ju Liu of New York University School of Medicine.
Global Genes, a global advocacy nonprofit working for patients and families of rare and genetic diseases, will help hundreds of patient advocates worldwide, including those for Gaucher disease, with travel stipends up to $100,000 so that they can attend this year’s 5th Annual RARE Patient Advocacy Summit. The…
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…
