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Use of genetic testing enabled the detection of hereditary angioedema (HAE) in a previously misdiagnosed woman, found to be carrying a gene variant linked with HAE of unknown genetic cause. The findings support the consideration of genetic testing to diagnose unexplained angioedema, with an end goal of speeding treatment…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Older patients with hereditary angioedema types 1 or 2 can as safely be treated for an acute attack with Firazyr (icatibant) as younger ones, a study found, even though people 65 or older tend to metabolize medicines differently and often are being treated for multiple disorders. The study, “…

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…

Researchers have developed a new rat model of hereditary angioedema (HAE) that more closely mimics the swelling episodes experienced by humans, which might improve studies about the mechanisms that cause the disease. The model has been described in a new paper, “Endothelial B2-receptor overexpression as an…

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,…

Firazyr (icatibant acetate) does not appear to be superior to placebo or symptomatic therapies in treating attacks of angioedema (swelling) caused by angiotensin-converting enzyme (ACE) inhibitors, a pooled analysis of three clinical studies shows. In all trials combined, injections of Firazyr considerably shortened mean time to…

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…

Regenxbio is exploring a new hereditary angioedema (HAE) treatment that harnesses viral vectors to deliver an antibody-based gene therapy, the company announced. The treatment will deliver the genetic sequence for an antibody that targets plasma kallikrein, a protein involved in swelling attacks in…