News

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…

People with Sjögren’s syndrome — particularly women, younger patients and those receiving certain immunosuppressant therapies — are at higher risk of developing Parkinson’s disease, according to a new study. The study, “Risk of Parkinson disease in Sjögren syndrome administered ineffective immunosuppressant therapies,” was published in the journal Medicine. Recently, studies have…

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…

A new study in mice suggests that metformin — a drug typically used to control blood sugar levels in diabetes — may be able to reduce inflammation and damage to the salivary glands in Sjögren’s syndrome. The study, “Metformin improves salivary gland inflammation and hypofunction in…

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…

Immune regulatory B-cells (Bregs) are less abundant in patients with primary Sjögren’s syndrome, and are inversely correlated with disease activity, a study suggests. Therefore, low blood Bregs may help to discriminate between patients and healthy subjects, and assist doctors in diagnosis, especially when patients lack the classical…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Pain, depression, and daytime sleepiness are significantly associated with both mental and physical fatigue in patients with primary Sjögren’s syndrome, even after adjusting for comorbidities and medication, a new study shows. Management of fatigue in these patients should thus be tailored to each patient, depending on potential contributors, and focused…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…