News

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,…

People with porphyria cutanea tarda (PCT) have higher risks of developing gastrointestinal diseases and certain types of cancer, compared with individuals from the general population, a study says. They also are more likely to die prematurely. The findings of the study, “Increased mortality in patients with porphyria…

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…

Alnylam Pharmaceuticals and Ironwood Pharmaceuticals are joining forces to better inform healthcare professionals about givosiran, Alnylam’s potential therapeutic for acute hepatic porphyria (AHP). Givosiran (also known as ALN-AS1) is an RNA-based therapy that works by blocking the activity of the enzyme aminolevulinic acid synthase 1 (ALAS1), whose loss stops…

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,…

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 “…