Gaucher disease is a rare inherited condition caused by the body’s inability to break down a fatty substance called glucocerebroside. This happens due to a lack of an important enzyme known ...

The bone marrow biopsy confirmed my diagnosis of Gaucher disease—given that it’s genetic, it showed up in my DNA on the test. I was 26, and it was late to be diagnosed with a genetic disease ...

It acquired rights to taligurase alfa, a form of the enzyme glucocerebrosidase in development for the treatment of Gaucher's disease, from Protalix Biotherapeutics in Carmiel, Israel. Protalix has ...

Learn how metabolic disorders are detected and diagnosed with Dr. Irene De Biase, professor of clinical pathology at the ...

England’s NHS will routinely fund Sanofi/Genzyme’s Cerdelga (eliglustat) for the rare condition Gaucher disease after a recommendation from NICE. The cost effectiveness body published final ...

Infants with Type 2 Gaucher disease may experience symptoms such as poor muscle tone, seizures, and developmental delays, often leading to death at a young age. “Diagnosing Gaucher disease ...

Javed Shaikh, Director of RWE & HEOR, Axtria, explains how harnessing next-generation sequencing and AI-powered analytics ...

Apr. 7, 2025 — A study found that a significant proportion of Parkinson's disease diagnoses are later corrected. Up to one in six diagnoses changed after ten years of follow-up, and the majority ...

Kolkata: A three-year-old girl waiting for treatment for a rare disease died without getting any medical assistance under the ...

Together the organisations are developing algorithms for identifying Fabry and Gaucher patients ... “There’s been a lot of progress in rare disease diagnosis in the last decades, as well ...

As measles outbreaks in the U.S. continue, here's what to know about how the disease spreads, what its symptoms are, and how to protect yourself and community from the illness.