News

September 3, 2020September 3, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

News, syndicated

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, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

News, syndicated

August 31, 2020August 31, 2020

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

News

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

News, syndicated

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

News

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

August 17, 2020August 17, 2020

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

News, syndicated

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. ... Read more

August 12, 2020August 12, 2020

New Streaming Channel Showcases Rare Disease Films

News, syndicated

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the ... Read more

August 10, 2020August 10, 2020

Measuring Lyso-Gb1 in Dried Blood Spots Can Help Monitor ERT Effectiveness

News

Measuring the levels of glucosylsphingosine (Lyso-Gb1) — a diagnostic biomarker of Gaucher disease — in dried blood spots is a reliable method to monitor the effectiveness of enzyme replacement ... Read more

August 3, 2020August 3, 2020

Children With Gaucher May Need Long-term ERT to Reach Desired Immune Responses, Study Says

News

Children with Gaucher disease who are on enzyme-replacement therapy (ERT) continue to have abnormal levels of immune cells, despite partial improvements, a study suggests. Therefore, these patients may need ... Read more

July 20, 2020July 20, 2020

25% of Patients in Spain on ERT Report Missed Doses Due to COVID-19

News

In Spain, a quarter of Gaucher disease patients being given enzyme replacement therapy (ERT) infusions at hospitals experienced dose interruptions due to the COVID-19 pandemic, a study reports. Greater attention needs to ... Read more

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