News

The U.S. Food and Drug Administration (FDA) has accepted and granted priority review status to Alnylam Pharmaceutical’s new drug application (NDA) seeking approval of givosiran for treating acute hepatic porphyria (AHP). Priority review means the FDA’s decision on whether to approve the therapy is expected within six months instead of the 10…

Erythropoietic protoporphyria (EPP) with mild or no liver disease can be caused by two co-occurring mutations in the FECH gene, researchers report. One of the two mutations has not previously been described. Their study, “Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic…

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…

Forty previously unreported mutations in the HMBS gene have been identified and found to be associated with the development of acute intermittent porphyria. Researchers at the Icahn School of Medicine at Mount Sinai, New York, described the mutations in the study “…

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…

Continued support, counseling, and education are important for patients with acute intermittent porphyria so that they can use that knowledge to avoid disease recurrence, a study says. The findings of the study, “Self-efficacy and self-management strategies in acute intermittent porphyria,” were published in BMC Health Services Research.

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 new technique that analyzes a group of genes associated with acute hepatic porphyrias (AHPs) is more sensitive and requires less DNA samples, a process that may speed diagnosis, according to a recent study. The research, “A next-generation-sequencing panel for mutational analysis of dominant acute hepatic…

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…