News

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,…

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 diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

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 out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

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 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 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,…