News

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

It’s been nearly half a century since the end of Alabama’s Tuskegee experiment, the infamous 40-year study in which the U.S. government intentionally gave 399 syphilis-infected black men useless placebos — like aspirin and mineral supplements — instead of penicillin, which could have cured them. Yet suspicions still linger, complicating today’s…

It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH)…

In-person education of caregivers increases their knowledge of sickle cell trait (SCT), according to researchers. But new strategies are needed to make sure caregivers don’t forget what they learned. The study, “Sickle cell trait knowledge and health literacy in caregivers who receive in‐person sickle cell trait education,” appeared in…

The amount of oxygen the blood loses when traveling through the brain could help identify children with sickle cell disease who are at risk of having a stroke, a study reports. Scientists call the measurement the oxygen extraction fraction because it refers to the percentage of oxygen that the brain…

Novo Nordisk has obtained worldwide rights to EpiDestiny’s sickle cell disease treatment EPI01. The disease-modifying therapy, consisting of decitabine and tetrahydrouridine, is aimed at  helping patients increase fetal hemoglobin levels to replace the hemoglobin that’s defective in the disease. The idea is to prevent red blood cells from becoming sickle-shaped,…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Researchers have pinpointed a specific genetic profile that could help identify sickle cell disease (SCD) patients who are at risk for developing acute chest syndrome (ACS), a common and severe complication of SCD. One of the major hallmarks of SCD is hemolysis – or breakdown of red blood cells –…

The European Medicines Agency recently granted orphan drug status to Sancilio Pharmaceuticals’ Altemia for the treatment of sickle cell disease (SCD) in pediatric patients, the company announced. Altemia is a specific formulation of lipids designed to replenish the elements needed for healthy red blood cells that are damaged…

Researchers used a gene editing tool to insert mutations into blood cells to increase their production of fetal hemoglobin, which may advance the development of new therapies for sickle cell anemia. The study, “Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding,” was…