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…

  The care of Alport syndrome patients at specific critical junctions — diagnosis, transition to adult care, and pregnancy — is among the topics of a recently published review study. The review, “The importance of clinician, patient and researcher collaborations in Alport syndrome,” was published in the journal…

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 genetic variant of the COL4A5 gene was identified in the family of a Chinese boy with atypical X-linked Alport syndrome. The case was reported in the study “Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with…

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…

Scientists found two molecules called sulfatides in the kidneys of a mouse model of Alport syndrome that may play an important role during the early stages of the disease. The findings of the study, “Two Specific Sulfatide Species Are Dysregulated during Renal Development in a Mouse Model…

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…

While Alport syndrome currently remains without a cure, ongoing research is testing several strategies that hold promise, a review study shows. The review, “New therapeutic options for Alport syndrome,” was published in the journal Nephrology Dialysis Transplantation. Alport syndrome is an inherited disease caused by mutations in the…

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…