News

A €1.4 million grant from the Eurostars-2 program, with funding from others, will support Gain Therapeutics and its partners in developing treatment candidates for Gaucher disease, Parkinson’s, and GM1 gangliosidosis. The grant, worth about $1.57 million, supports ongoing research by Gain and its collaborators  Maurizio Molinari,…

Gaucher disease is among the more costly of chronic diseases to treat in Iran, and efforts are needed to minimize the financial burden facing patients and health authorities in the country, researchers say. Findings of their study, “Healthcare resource utilization and cost of care for Gaucher patients in…

When school psychologist Wayne Rosenfield was 5 years old, he had an enlarged spleen. Doctors in his hometown of Springfield, Massachusetts, brushed it off, telling his parents: “He’s just a kid with a larger than normal spleen.” Later, when the boy complained of nosebleeds, their advice: “Tell him to keep…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

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…