News

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Global biotechnology company MaxCyte announced the successful correction of a genetic mutation associated with sickle cell disease (SCD) in a patient’s hematopoietic stem cells (HSCs), the type of cells that give rise to blood cells. The mutation was corrected in the hemoglobin gene using MaxCyte’s non-viral cell engineering…

Sickle cell trait (SCT) is not associated with an increased incidence of stroke, a study in African-American patients suggests. The study, “Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis,” was published in the journal JAMA Neurology. Sickle cell trait occurs in…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The U.S. Food and Drug Administration recently accepted an investigational new drug (IND) application submitted by Bioverativ and Sangamo Therapeutics for BIVV003, a gene-edited cell therapy candidate for the treatment of sickle cell disease. BIVV003 uses a nonviral approach that uses zinc finger nuclease (ZFN) gene-editing technology to…

Physicians who use stigmatizing language in their patients’ medical records could be affecting the care they receive for years to come, according to a new Johns Hopkins study. Titled “Do Words Matter? Stigmatizing Language and the Transmission of Bias in the Medical Record,” and published in the Journal…

Three programs focused on sickle cell disease (SCD) planned by St. Jude Children’s Research Hospital will benefit from a $1 million Legacy Grant awarded by The Links Foundation. The foundation, the philanthropic arm of The Links — one of the United States’ oldest and largest African-American women’s volunteer service…

Under a new treatment protocol, seven adults with sickle cell anemia were treated — and reportedly cured — using stem cells from donors previously seen as incompatible. The study reporting these treatments, “Haploidentical Peripheral Blood Stem Cell Transplantation Demonstrates Stable Engraftment in Adults with Sickle Cell Disease,” was…

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”…