News

Results from the ongoing Gaucher Outcome Survey (GOS) continue to provide new insights into Gaucher disease (GD) characteristics, as well as improved assessments of treatment patterns and long-term global outcomes. The GOS (NCT03291223) is an international, observational disease registry promoted by Shire, a biotech focused on rare diseases,…

Phase 3 clinical data demonstrated that Abcertin, an investigational formulation of imiglucerase being developed by ISU Abxis, is a safe and effective therapeutic option for the treatment of patients with type 1 Gaucher disease. Gaucher disease is a genetic disorder that is characterized by low levels of the…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

A  new study by researchers at Houston’s Baylor College of Medicine has linked a group of genes associated with lysosomal storage disorders, such as Gaucher disease, to the onset and progression of Parkinson’s disease. The study, “Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease,” appeared…

JScreen, a nonprofit group affiliated with Atlanta’s Emory University, spent October — Gaucher Disease Awareness Month — screening Jewish students for Gaucher and other genetic conditions at U.S. college campuses with high Jewish populations. It partnered with the National Gaucher Foundation to run the tests run for 200-plus conditions,…

The case of an infant with type 2 Gaucher disease who clearly inherited one disease-causing mutation from his father but whose mother did not show evidence of the second defective gene was detailed by a research team at the National Human Genome Research Institute (NHGRI). Genetic mutations associated with…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

A major challenge of diagnosing Gaucher disease is that its neurological manifestations can appear very early in life or much later, according to a National Institutes of Health review of the rare condition. Also making a diagnosis difficult is the broad range of symptoms the hereditary disorder can display. In some cases its…

Glucosylsphingosine (lyso-Gb1), a recently identified biomarker for Gaucher disease (GD), was shown to contribute to the development or peripheral symptoms in a mouse study, potentially validating its use as a diagnostic tool, according to new research. The study, “Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…