News

September 28, 2020September 28, 2020

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

News, syndicated

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 found ... Read more

September 21, 2020September 21, 2020

Potential SRT for Neuronopathic Gaucher Shows Efficacy in Early Study

News

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 model ... 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 linked ... 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. Baby’s ... 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 “A ... 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 series ... 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 input ... 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, the ... 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. The ... 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 films ... Read more