News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Novartis and the Bill and Melinda Gates Foundation are collaborating to develop a single-shot gene therapy that would cure sickle cell disease (SCD) without the need to engineer cells outside the body. The partnership aligns with Novartis’ efforts to better treat SCD, and the Gates Foundation‘s…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Bluebird Bio has paused two clinical trials of LentiGlobin, its gene therapy candidate for sickle cell disease (SCD), after learning that a patient who received treatment more than five years ago now has developed acute myeloid leukemia (AML), a type of blood cancer. In line with study protocols,…

A good diet and companionship, or treatment with an antidepressant called duloxetine was seen to significantly lessen pain in a mouse model of sickle cell disease (SCD), a study reports. Notably, each intervention was associated with higher levels in the animals of serotonin, a brain chemical messenger involved in stabilizing…

Oxbryta (voxelotor) can help ease, or fully heal, painful leg ulcers in people with sickle cell disease (SCD), according to a post-hoc analysis of a Phase 3 trial. These promising findings support the launch of future trials investigating the potential benefits of Oxbryta — already conditionally approved…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

A new National Heart, Lung, and Blood Institute (NHLBI) challenge will award a first prize of $25,000 to a team of college or graduate students who develop an innovative tool to help spread evidence-based information about sickle cell disease (SCD). A total of $50,000 will be granted to the three…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Red blood cells in people with sickle cell disease (SCD) flow through blood vessels in a manner that damages the walls, which may explain blood vessel problems and increased inflammation in SCD, new research indicates. The study, “Flow-induced segregation and dynamics of red blood cells in sickle cell…