News

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…

A small molecule targeting a protein of the complement system — a large group of plasma proteins that normally react with one another to fight infection — may help prevent the destruction of red blood cells that characterizes autoimmune hemolytic anemia (AIHA), a study suggests. The study “…

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…

APL-2, Apellis Pharmaceuticals’ investigational compound for the treatment of autoimmune hemolytic anemia (AIHA), increases the levels of hemoglobin and reduces red blood cells’ destruction (hemolysis) in patients with cold agglutinin disease (CAD) and warm antibody autoimmune hemolytic anemia (wAIHA), a Phase 2 clinical trial shows.

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…

The case report of a patient with cold agglutinin disease (CAD) who developed chronic inflammation of the gums (periodontitis) highlights the need for dentists to be aware of CAD signs and symptoms. The study, “Cold agglutinin disease and its implications for dental treatment,” was published in the journal…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

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 the…

A case study detailing the treatment of an 84-year-old man who developed B-cell prolymphocytic leukemia and cold type autoimmune hemolytic anemia (AIHA) suggests possible “innovative” therapies for these rare diseases. The study, a letter to the editor titled “Hot and Cold: A Concurrent Warm and Cold Autoimmune Hemolytic…