Gene activity profiles of cells from Gaucher disease patients confirm the idea that inflammation plays an important role in the disease’s development, a study reports. Researchers argue that the new insights favor looking to anti-inflammatory agents when seeking new therapies for…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…
Manifestations in the eye are rare symptoms of Gaucher disease that can affect patients with all disease subtypes, a review study suggests. These symptoms should be diagnosed and treated early to avoid complications, including loss of sight. The study, “Ophthalmic manifestations of Gaucher disease: the most common lysosomal…
With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…
Plasma levels of a molecule called galactosylsphingosine are low enough that they do not interfere with the detection of the Gaucher disease biomarker glucosylsphingosine, or Lyso GL-1, a study using a new analytic approach has found. The study, “Galactosylsphingosine does not interfere with the quantitation of…
Morocco needs better facilities specialized in the screening, diagnosis, and management of Gaucher disease to prevent underdiagnosis of the disorder, a report of two cases suggests. Additionally, clinicians should consider other disease markers besides β-glucocerebrosidase, due to the fact that nearly 1 in 5 patients…
A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, associated with Gaucher disease. The case study, “A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma,”…
A new microscopy technique enables visualization of beta-glucocerebrosidase (GBA) given in enzyme replacement therapy (ERT) to people with Gaucher disease. This could help improve treatment efficiency in this patient population, the researchers suggested. The study, “Localization of Active Endogenous and Exogenous GBA by Correlative Light-Electron Microscopy…
Using machine-learning approaches, researchers unraveled how certain mutations in the GBA gene — responsible for Gaucher disease — affect the function of the glucocerebrosidase enzyme at the molecular level. The study with that finding, “Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep…
Gaucher disease took center stage at a recent medical conference in Vienna, Austria, organized by Ari Zimran, MD, director of the Gaucher Clinic at Israel’s Shaare Zedek Medical Center. “Gaucher is an amazing model for rare diseases, because even though here in Israel it’s far more common —…
