Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
News
A blood stem cell transplant can successfully correct defects in the body’s ability to make heme — a molecule that helps transport oxygen through the bloodstream — in people with bone marrow-based porphyrias, a small study showed. Thus, in patients with severe porphyrias, stem cell transplants should be considered…
A baby girl was found to have congenital erythropoietic porphyria, highlighting the importance of closely examining the bone marrow for diagnosing this rare form of porphyria. Her case was described in the study, “Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria,” published in the…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
Givlaari (givosiran) may cause homocysteine, an amino acid, to rise to unhealthy levels in some people with acute intermittent porphyria (AIP), according to a recent case study of two patients. Blood levels of homocysteine should be tested in people with acute porphyrias being considered for this treatment, and checked regularly…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
A man with porphyria cutanea tarda (PCT) linked to a chronic hepatitis C virus infection was successfully treated for both conditions with direct-acting antiviral agents. Researchers considered this case notable for the patient’s dramatic recovery, and the lack of excessive iron in his liver,…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
Disc Medicine has entered into an exclusive worldwide licensing agreement to develop and commercialize Roche’s bitopertin, an oral candidate therapy for blood disorders. Disc will initially develop bitopertin for erythropoietic porphyrias, a group of porphyrias that mainly affect red blood cells and bone marrow. The company is planning…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
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