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October 12, 2020October 12, 2020

Gaucher Type 1 Therapy AVR-RD-02 Granted EU Orphan Drug Status

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An experimental gene therapy known as AVR-RD-02 has received orphan drug designation from the European Commission for the treatment of Gaucher disease type 1. In the European Union, orphan drug ... Read more

October 6, 2020October 6, 2020

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

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Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare ... Read more

September 28, 2020September 28, 2020

Efforts Continue Beyond Awareness Month to Expand Newborn Screening Panels in US

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It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they ... Read more

September 21, 2020September 21, 2020

Potential SRT for Neuronopathic Gaucher Shows Efficacy in Early Study

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A substrate reduction therapy (SRT) candidate known as Genz-667161 effectively reduced the buildup of glucocerebroside in the brain, improved survival, and reversed changes in gene activity in a mouse ... Read more

September 14, 2020September 14, 2020

Fatty Liver Common, Linked to Scarring, in Type 1 Gaucher, Study Finds

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Liver steatosis, a condition characterized by the buildup of fatty tissue inside the liver, is common in adults with type 1 Gaucher disease and is strongly associated with metabolic changes ... Read more

September 10, 2020September 10, 2020

Activities Underway for Newborn Screening Awareness Month

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As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. ... Read more

September 3, 2020September 3, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

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Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme ... Read more

August 31, 2020August 31, 2020

Type 3 Gaucher Patients at Greater Risk of Parkinson’s as They Age, Case Series Suggests

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Much like people with type 1 Gaucher disease (GD), patients with type 3 may be at greater risk of developing features of Parkinson’s disease as they get older, a case ... Read more

August 25, 2020August 25, 2020

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

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Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient ... Read more

August 24, 2020August 24, 2020

Centogene, Evotec Expand Collaboration to Develop New Gaucher Treatments

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Centogene and Evotec have expanded their collaboration agreement to focus on the development of new treatments for Gaucher disease and other rare disorders caused by mutations in the GBA gene, ... Read more

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