Patricia Inácio, PhD,  science writer—

Three women in Nepal were diagnosed with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, as described in a recent case report. Genetic analyses revealed the presence of a rare mutation in the UROS gene, one of the two genes underlying CEP, in two of…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Rapid and severe damage to peripheral nerves, those sending sensory and motor information from the brain and spinal cord to the rest of the body, can be a rare sign of acute intermittent porphyria (AIP), a case report suggests. Early diagnosis of AIP is key in avoiding serious nerve…

People with acute intermittent porphyria (AIP) have structural changes in the brain, namely an enlargement of the brain’s ventricles — a set of four communicating cavities — associated with a reduction in the brain’s blood flow, a study suggests. A liver-targeted gene therapy designed to restore the levels of…

A long-term study seeking to deepen the understanding of the natural history of porphyrias — both acute, typically affecting the nervous system, and cutaneous, which causes skin symptoms — is recruiting participants. The Longitudinal Study aims to assess the prevalence of specific indicators of disease severity, and to…

Real-world data support the effectiveness of Scenesse (afamelanotide) in extending tolerance to sunlight among adults with erythropoietic protoporphyria (EPP), a Swiss study found. Treatment with Scenesse increased damage-free light exposure from a median of 10 minutes to three hours. The study, “Increased phototoxic burn tolerance time and…

People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) experienced a rapid and lasting reduction in porphyria attacks — and most remained attack-free for the first six months of the ENVISION trial’s extension study. In addition, no new…

Alnylam Pharmaceuticals has awarded a total of $270,000 to seven patient advocacy groups, including the American Porphyria Foundation (APF), in the company’s Advocacy for Impact grants program. The second annual program, designed to help advocacy groups address unmet needs in rare diseases, will be funding projects that look to promote…