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May 23, 2019

Preclinical Data Has AVR-RD-02 Gene Therapy on Track for First Trial in Humans

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Avrobio presented updated preclinical data for AVR-RD-02, its gene therapy candidate for Gaucher disease, and announced its plans to begin the first clinical studies in patients with type 1 ... Read more

May 16, 2019

Gene Activity Profiling Reinforces Inflammation’s Role in Gaucher Disease

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Gene activity profiles of cells from Gaucher disease patients confirm the idea that inflammation plays an important role in the disease’s development, a study reports. Researchers argue that the ... Read more

May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

May 6, 2019

Gaucher Disease Leads to Eye Manifestations Needing Early Diagnosis, Treatment, Review Suggests

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Manifestations in the eye are rare symptoms of Gaucher disease that can affect patients with all disease subtypes, a review study suggests. These symptoms should be diagnosed and treated early to ... Read more

April 25, 2019April 25, 2019

Nonprofit Group Works to Raise Rare Disease Awareness in India

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With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients ... Read more

April 22, 2019

Detection of Gaucher Biomarker Not Affected by Similar Molecule, Study Reveals

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Plasma levels of a molecule called galactosylsphingosine are low enough that they do not interfere with the detection of the Gaucher disease biomarker glucosylsphingosine, or Lyso GL-1, a study ... Read more

April 18, 2019

Better Measures Needed in Morocco to Avoid Underdiagnosis of Gaucher Disease, Case Report Suggests

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Morocco needs better facilities specialized in the screening, diagnosis, and management of Gaucher disease to prevent underdiagnosis of the disorder, a report of two cases suggests. Additionally, clinicians should consider other ... Read more

April 15, 2019

Case Report Raises Awareness on Multiple Myeloma Risk in Gaucher Disease Patients

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A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, ... Read more

April 12, 2019

Microscopy Approach Enables Precise Visualization of GBA Used in Enzyme Replacement Therapy

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A new microscopy technique enables visualization of beta-glucocerebrosidase (GBA) given in enzyme replacement therapy (ERT) to people with Gaucher disease. This could help improve treatment efficiency in this patient ... Read more

April 11, 2019

Computer Model Reveals Changes in Glucocerebrosidase Function in Certain Gaucher Mutations

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Using machine-learning approaches, researchers unraveled how certain mutations in the GBA gene — responsible for Gaucher disease — affect the function of the glucocerebrosidase enzyme at the molecular level. The study ... Read more

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