News

A rare case of atypical hemolytic uremic syndrome (aHUS) manifesting in generalized seizures in a 14-month-old girl highlights the importance of prompt diagnosis and treatment to ensure better outcomes for this young population, a report says. The case was described in a study, “…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Omeros Corporation’s lead therapy candidate, OMS721, being developed for the treatment of complement- and inflammation-related disorders including atypical hemolytic uremic syndrome (aHUS), will now be known as narsoplimab, the company announced. The generic name narsoplimab was approved by the United States Adopted Names (USAN) Council in consultation…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

It may be possible, in some atypical hemolytic uremic syndrome (aHUS) cases, to limit the duration of treatment with Soliris (eculizumab), the therapy of choice for this disease, according to Gema Ariceta, MD, an expert in kidney diseases at the Universitat Autonoma de Barcelona in Spain. However,…

Scientists have created a new mouse model for atypical hemolytic uremic syndrome (aHUS) that fully mirrors the clinical symptoms of the disease seen in human patients. The animals, which harbor a genetic mutation in the C3 protein, may be used in the future to test new therapeutic agents…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…