A scoring system of swallowing difficulties may be a simple and valuable way of staging neurological decline in infants with type 2 Gaucher disease, which is useful to guide clinical care and evaluate potential therapies, a post-hoc study has found. The study with the findings, “Five-parameter evaluation of…
A Penn State University researcher will use a $65,000 grant from the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) to create a 3-D bone tissue model for the study of Gaucher disease. Ibrahim Tarik Ozbolat, Hartz Family Career Development associate professor of engineering science…
Germany’s Centogene is introducing a free smartphone app that lets people with Gaucher disease monitor their own progress. But an organization that represents Gaucher patients is concerned about what the company will do with the data it collects — and with whom it will be shared. Peter Bauer, Centogene’s…
Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone alterations in cellular models of the condition, a study found. The treatment was also effective in cell models of Fabry disease, another lysosomal storage disorder. The study, “…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. The study, “Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher…
Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children with Gaucher disease, helping physicians determine when enzyme replacement therapy should be initiated, a study suggests. The study, “Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease,” was…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy,” was published in the Journal of Psychosomatic Research. To date, there are few…
