News

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

Study Supports Genetic Testing to Diagnose HAE of Unknown Cause

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…

New Rat Model of HAE More Closely Mimics Human Disease

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…