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November 13, 2018

Two New Mutations Linked to Gaucher Type 1 Identified in Indian Study

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Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first time, the estimated carrier frequency ... Read more

November 6, 2018

Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

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A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, ... Read more

October 30, 2018

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

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Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. ... Read more

October 29, 2018

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach

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With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax ... Read more

October 25, 2018

Case Report on 3 Relatives Stresses Importance of Early Diagnosis and ERT in Gaucher Disease

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A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to prevent disease progression and improve quality ... Read more

October 23, 2018

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

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Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. ... Read more

October 18, 2018

‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

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Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who ... Read more

October 16, 2018

Cerdelga May Be a Cost-saving Treatment Option for Gaucher Type 1, Study Finds

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Switching patients with Gaucher disease type 1 (GD1) from enzyme replacement therapy (ERT) to Cerdelga (eliglustat), an oral substrate reduction therapy (SRT), may strongly reduce treatment-associated costs, a recent study ... Read more

October 11, 2018

Cerdelga Continuously Provides Long-term Benefits for Gaucher Patients, Study Shows

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Long-term treatment with Cerdelga (eliglustat), a substrate reduction therapy for Gaucher disease type 1, is safe and continuously improves blood parameters, decreases spleen and liver volumes, and reduces markers ... Read more

October 9, 2018

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based ... Read more

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