Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who have, or are suspected of having, specific types of lysosomal storage disorders, including Gaucher disease. Those…
When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at the Royal Free Hospital and University College Medical School in London, the study, “A health…
Children with type 1 Gaucher disease have deterioration of white matter in their brains before they show any clinical symptoms, researchers at China’s Capital Medical University found. According to the study, “Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion…
Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children with mild or atypical symptoms, a study from China reports. This finding could be particular importance to children at high risk…