News

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

From tweeting disease facts to taking photos with licence plates, supporters worldwide are participating in International Gaucher Disease Awareness Month, set aside each October to bring global attention to the disorder and needs of the patient community. Gaucher disease, a disorder that can affect many organs and tissues, occurs…

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…