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
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
August 27, 2025| Gaucher Disease News
Living with Gaucher disease has shaped how I think about my body in ways I never expected. For many people, body image is about appearance. For me, it has been less about the surface and more about the deeper, unsettling feeling that my body is failing me. When I was diagnosed with Gaucher, it came […] The post My Gaucher diagnosis made me feel like my body had betrayed me appeared first on Gaucher Disease News.| 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
As the Jewish new year approaches, I find myself in a season of reflection. I’m looking back on the past year and taking stock of how far I’ve come, while also looking ahead with hope and intention. Living with Gaucher disease means that I’m always aware of my body, my energy, and my limits. But […] The post Reflecting on how I’ve grown stronger over the past year 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
Pilates workouts have become my “me time.” Once or twice a week, I step away from everything else — work, parenting, and the constant noise of daily life — and focus on myself and rebuilding my strength. After pregnancy, I felt especially weak, and Pilates offered a safe way to regain stability without putting unnecessary […] The post Strength training with Pilates while living with Gaucher disease appeared first on Gaucher Disease News.| Gaucher Disease News
Treatment with corticosteroids and hydroxychloroquine to dampen inflammation helped ease serious lung problems in an infant with type 3 Gaucher disease, a case report shows. The child developed breathing difficulties and low blood oxygen despite being diagnosed early and starting enzyme replacement therapy (ERT). Because doctors suspected inflammation caused by the buildup of Gaucher cells […] The post Anti-inflammatory drugs treat lung issues in baby with Gaucher disease appeared first on ...| Gaucher Disease News
Differences in nerve cell function may explain why some people with Gaucher disease develop the neurodegenerative Parkinson’s disease and others do not, a study found. When researchers compared nerve cells derived from siblings with Gaucher with different outcomes — one developed Parkinson’s while the other did not — they found differences in certain protein levels and the […] The post Why do some Gaucher patients face Parkinson’s disease risk? appeared first on 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
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…| Gaucher Disease News
Gaucher disease is a genetic disorder that can cause enlarged organs, blood disorders, bone abnormalities, and neurological complications.| Gaucher Disease News