To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
News
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Panhematin (hemin for injection), an approved medication to treat acute intermittent porphyria (AIP), has been deemed an essential medicine by the U.S. Food and Drug Administration (FDA), a designation intended…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
A rare case of a woman with acute intermittent porphyria (AIP) complicated by posterior reversible encephalopathy syndrome (PRES), a neurological disorder characterized by seizures, was described in a report. Because some common anti-seizure therapies…
An Argentinian man with two different porphyria-causing mutations was described in a new case report. The unusual findings highlight the importance of thorough clinical and molecular analyses in such cases to better define treatment strategies, researchers said. The report, “Acute Intermittent Porphyria in a Man with…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
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 photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
Voting is underway for the 2021 Pet Calendar Contest organized by the American Porphyria Foundation (APF). Through Oct. 30, people can vote for their favorite pets, with each vote requiring a $2 donation. Information about the competing pets, as well as links to make vote and add an…
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