News

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

After the death of a 20-year-old man with erythropoietic protoporphyria (EPP), clinicians in Japan reported that a split liver transplant — a procedure in which an organ donor’s liver is divided and transplanted into two different people — may not be an effective treatment for EPP patients with liver…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

A boy in Iran was found to carry two copies of a previously unknown mutation in the PPOX gene that caused both skin and neurological symptoms of variegate porphyria (VP), according to a recent case report. “To the best of our knowledge, around 15 cases with homozygous VP [both…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

Patients with acute porphyria have a higher risk of developing primary liver cancer, a Swedish study has found. Researchers observed that primary liver cancer was 38 times more likely to occur in patients with acute porphyria than in the general population. This risk was even higher for those with…

Raising awareness about acute hepatic porphyria (AHP) and helping to shorten the time it takes to get diagnosed with the rare disease are the goals of a new documentary by Alnylam Pharmaceuticals. The film, “Two of Me: Living with Porphyria,” chronicles the lives of seven people from different…

Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…