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February 12, 2020February 12, 2020

FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar

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The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous ... Read more

February 10, 2020February 10, 2020

Thermo Fisher Develops Test to Screen Genes Linked to Gaucher, Other Hereditary Disorders

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Thermo Fisher Scientific said it has developed a new test that will allow reproductive health investigators to screen 420 genes for markers of several disorders, including Gaucher disease. This ... Read more

February 7, 2020February 7, 2020

With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

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The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over ... Read more

February 6, 2020February 6, 2020

IGA, Kantar Partner to Build Global Gaucher Registry for Type 2 and 3 Patients

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The International Gaucher Alliance (IGA), which includes members from 54 countries, has announced a partnership with the London-based data consulting company Kantar to manage its new patient registry for neuronopathic Gaucher ... Read more

February 3, 2020February 3, 2020

Gaucher Mouse Model Mimics Broad Set of Symptoms to Aid in Therapy Discovery, Study Says

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An in-depth characterization of a mouse model of Gaucher disease shows that it effectively mimics many of the visceral and neurological aspects of the disorder. Because of this, these ... Read more

January 30, 2020January 30, 2020

Case Report Identifies New GBA Gene Mutation in Woman with Gaucher Type 1

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A newly identified mutation in a region of the GBA gene that lacks information necessary to make the resulting beta-glucocerebrosidase (GCase) protein was found in a woman with Gaucher disease (GD) ... Read more

January 27, 2020January 27, 2020

Targeted Gene Therapy Prevents Neurological Symptoms, Extends Survival in Gaucher Mouse Model, Study Shows

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Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and ... Read more

January 23, 2020January 23, 2020

Careful Monitoring for Lung Involvement Urged for Gaucher Children, Even Absent Symptoms, Study Reports

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Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an ... Read more

January 20, 2020January 20, 2020

‘Floaters’ That Impair Vision May Help Track GD3 Severity, Small Study Suggests

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White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small ... Read more

January 16, 2020January 16, 2020

Avrobio Cleared to Expand to the U.S. its Gene Therapy Trial for Gaucher Disease

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The U.S. Food and Drug Administration (FDA) has approved Avrobio‘s application to expand to the U.S. its ongoing Phase 1/2 trial testing its gene therapy candidate AVR-RD-02 in people with ... Read more

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