Gaucher disease is a genetic disorder when the body is unable to break down certain fats, leading to fat accumulation in the ...

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

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

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 ...

National Policy for Rare Diseases 2021 addresses diagnosis and treatment, categorizing diseases and advocating for affordable ...

Sanofi is still running studies of the glycosphingolipid (GSL) inhibitor in rare lysosomal storage diseases like Gaucher disease type 3, Fabry disease and GM2 gangliosidosis (also known as Tay ...

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 ...