News

A new mutation in the FECH gene was identified as the cause of erythropoietic protoporphyria in a 14-year-old Japanese boy, as described in a recent study. The case report was published in the form of a letter to the editor in The Journal of…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

An 18-year-old woman developed skin lesions associated with variegate porphyria (VP) — a type of acute porphyria — after having a progesterone birth control device called Nexplanon implanted under her skin. According to the researchers, this is the first reported case of variegate porphyria triggered by a progesterone-release birth…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

A new mutation in the UROS gene, combined with another previously reported mutation, was identified as the cause of congenital erythropoietic porphyria (CEP) in an elderly Japanese woman, according to a recent case report. Researchers found the new mutation with genetic testing, following a porphyrin test that showed elevated levels in…

Note: This story was updated April 1, 2022, to add events being held by Global Porphyria Advocacy Coalition, the umbrella organization for porphyria patient advocacy organizations. From hosting film watch parties to posting photos of pets, supporters are set to mark Porphyria Awareness Week (PAW), observed April 2–9 this…

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…