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Soliris (eculizumab) treatment shows a long-term positive benefit-risk profile in both adult and pediatric patients with atypical hemolytic uremic syndrome (aHUS), a registry study reports. The study, “Eculizumab Safety: 5-Year Experience from the Global aHUS Registry,” was published in the journal Kidney International Reports. Soliris, an engineered…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Soliris (eculizumab) withdrawal after several months of treatment and full recovery in people with atypical hemolytic uremic syndrome (aHUS) is both safe and cost effective, a study suggests. The study, “Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

A multidisciplinary approach is needed to evaluate patients suspected of having atypical hemolytic uremic syndrome (aHUS) and to select the best course of treatment in each instance, a case report says. The report, “A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome,” was…

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…

Bloody stools in children with atypical hemolytic uremic syndrome (aHUS) may indicate the simultaneous presence of inflammatory bowel disease (IBD), three case studies report. These findings raise questions about the connection between aHUS and its associated defects in the complement system, and the gut inflammation characteristic of…

Clinical features and outcomes of patients with anti-factor H antibody, associated with atypical hemolytic uremic syndrome (aHUS), were reported in a nationwide study conducted by Indian researchers. The study, “Clinical and Immunological Profile of Anti-factor H Antibody Associated Atypical Hemolytic Uremic Syndrome: A Nationwide Database,” was published…

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…