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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

October 4, 2018

Worsening of Untreated Retinal Detachment in Boy with Gaucher Type 3 Described in Case Report

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A new case report describes a 14-year old boy diagnosed with Gaucher disease (GD) type 3 with retinal detachment in his right eye that worsened rapidly without treatment. The report, ... Read more

October 2, 2018

AVROBIO Advances AVR-RD-02 Gene Therapy into Gaucher Disease Phase 1/2 Trial in Canada

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AVROBIO is advancing its gene therapy for Gaucher disease, AVR-RD-02, into a Phase 1/2 clinical trial after Health Canada raised no objections to its clinical trial application, the company announced. The ... Read more

September 25, 2018

Lab-grown Bone Cells May Predict Gaucher Patients’ Response to Bone Disease Therapy

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Generating specific bone cells derived from Gaucher patients may be used to monitor the progression of bone disease and predict treatment response in Gaucher disease patients, according to researchers. ... Read more

September 21, 2018September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan ... Read more

September 20, 2018

Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

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When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at ... Read more

September 18, 2018

Liver Fibrosis Common in Gaucher Type 1, and ERT Is Seen to Be Beneficial, Study Reports

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Liver fibrosis is a common condition in patients with Gaucher disease type 1 (GD1) and can be predicted by factors such as disease severity and spleen removal, according to ... Read more

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