October 13, 2025| Gaucher Disease News
Gaucher disease patients are at higher risk of blood cancer, but the risk of solid tumors is similar to the general population, per a study.| Gaucher Disease News
A bone marrow biopsy — a test that examines the soft tissue inside bones where blood cells are made — proved critical in diagnosing Gaucher disease (GD) in a boy in India with growth delays and a swollen abdomen. The biopsy revealed the presence of Gaucher cells (enlarged foamy immune cells that are a hallmark […] The post Bone marrow biopsy proves key to boy’s Gaucher diagnosis appeared first on Gaucher Disease News.| Gaucher Disease News
International Gaucher Day on Oct. 1 kicks off this year's awareness month, with a goal of shortening the diagnostic journey for patients.| Gaucher Disease News
Measuring levels of lyso-Gb1, a fatty molecule often used as a biomarker of Gaucher disease (GD) severity, could help improve the accuracy of diagnostic tests for the rare condition, according to a new report from a South American research team. While low activity of the glucocerebrosidase (GCase) enzyme is the diagnostic hallmark of Gaucher, unreliable […] The post Measuring lyso-Gb1 levels may aid diagnosis accuracy in Gaucher appeared first on Gaucher Disease News.| Gaucher Disease News
A 31-year-old woman with type 1 Gaucher disease (GD) experienced worsening symptoms and rising disease activity markers after switching from long-term enzyme replacement therapy (ERT) to Cerdelga (eliglustat), according to a recent case report. The woman — who was obese and had her spleen surgically removed years earlier — developed increasing fatigue, liver enlargement, and […] The post Obesity may affect SRT treatment response in Gaucher disease appeared first on Gaucher Disease News.| Gaucher Disease News
In Gaucher disease, the toxic buildup of a fatty molecule called glucosylsphingosine (lyso-Gb1) leads to issues with how nerve cells generate energy and other cellular problems, according to a new study. Lyso-Gb1 is a biomarker of disease burden and response to treatment. The findings help to understand how the accumulation of fatty molecules contributes to […] The post Fatty molecule may cause nerve cell damage in Gaucher: Study appeared first on Gaucher Disease News.| Gaucher Disease News
Treatment with a corticosteroid and hydroxychloroquine eased symptoms of severe lung problems in an infant with type 3 Gaucher disease.| Gaucher Disease News
A boy with Gaucher disease developed digestive complications related to lymph node issues despite receiving ERT treatment, per a case report.| Gaucher Disease News