News

November 28, 2017

Gaucher Outcome Survey Patient Registry Provides Global Insights into Disease

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. ... Read more

November 21, 2017

Abcertin Clinical Data Supports Use as Alternative Replacement Therapy for Type 1 GD

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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 ... Read more

November 21, 2017

Rare Disease Patient Groups Unite to Preserve Orphan Drug Tax Credit in US

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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 ... Read more

November 16, 2017November 16, 2017

Baylor Study Links Mutations in Lysosomal Genes to Parkinson’s Disease

News

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 ... Read more

November 9, 2017November 9, 2017

JScreen Targets Universities to Test Jews for Gaucher Disease, Other Genetic Conditions

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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 ... Read more

November 7, 2017

Baby with Gaucher Type 2 Not Inherited from Mother Detailed in Case Study

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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 ... Read more

November 2, 2017

Children’s National, NORD Partner to Create Rare Disease ‘Centers of Excellence’

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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 ... Read more

October 26, 2017

Why Variations in the Neurological Manifestations of Gaucher Make It Difficult to Diagnose

News

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. ... Read more

October 24, 2017

Recently Identified Biomarker Could Be Valid Diagnostic Tool for Gaucher Disease, Mouse Study Suggests

News

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 ... Read more

October 23, 2017October 23, 2017

#NORDsummit – Alternatives to Large Placebo Trials, Grant Awards Among Ways FDA Supporting Rare Diseases, Chief Says

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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 ... Read more