Researchers have reported the case of a young man with type 1 Gaucher disease caused by a rare mutation in the GBA1 gene, which may help explain how this mutation affects the disease and response to treatment. The mutation, known as p.Thr82Ile, was found in both copies of the man’s GBA1 gene,…
Living with Gaucher disease means I always have a strong awareness of my body in all its functions. Bone health, energy levels, and long-term stability aren’t abstract ideas — they’re part of my daily calculations, even when I’m considered “stable.” Recently, I finished a nutrition course, not because…
The three main types of Gaucher disease differ not only in symptoms but also in the biological processes driving the disease at a molecular level, according to a study. Type 1 Gaucher disease is associated with changes in immune regulation, tissue structure, and cellular stress responses, while types 2…
