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 of neuronopathic Gaucher disease, a study showed. The study, “Substrate…
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 to fatty liver disease, an Italian study has found. The condition is also associated with liver scarring…
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 First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…
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 Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
Much like people with type 1Â 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 suggests. The study, “Parkinsonism in patients with neuronopathic (type 3) Gaucher disease: A…
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 into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
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 companies announced. This expanded partnership builds upon a previous collaboration agreement, launched in 2018,…
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 initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
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 to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…
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 therapy (ERT) in people with the disease, a study shows. The findings, based on Lyso-Gb1 monitoring over more…
