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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…

A team of researchers led by HudsonAlpha Institute for Biotechnology and the Clinical Sequencing Exploratory Research (CSER) consortium found that genome sequencing enabled the diagnosis of almost 30 percent percent of children with unexplained developmental delay or seizures. Some of the participants carried genetic…

Researchers found that inhaled corticosteroids (ICS) given at the time of hospital admission did not improve outcomes in children with sickle cell disease (SCD)-associated acute chest syndrome. The study, “Early initiation of inhaled corticosteroids does not decrease acute chest syndrome morbidity in pediatric…

Patients with sickle cell disease show the highest rates of readmission and hospitalization within 30 days of being discharged from an emergency department, a single-center study found. The study, “Patients Discharged From the Emergency Department After Referral for Hospitalist Admission,” was published in The American Journal of Managed…

Negative experiences with a racial connotation are common among adolescents and young adults with sickle cell disease (SCD), Connecticut Children’s Medical Center researchers showed in a recent study. In the United States, sickle cell affects mainly African-Americans, and is historically perceived in the medical community as a “black disease.”…

Researchers found that a new conditioning regimen for adult sickle cell disease (SCD) patients undergoing allogeneic peripheral blood stem cell transplantation (allo-PSCT) shows remarkable success in preventing the immune system from reacting against the treatment, a condition known as graft-versus-host disease. The study detailing that finding, “Allogenic peripheral stem…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

The European Medicines Agency (EMA) has signaled that it is ready to begin reviewing Emmaus Life Sciences’ Xyndari as a possible treatment for sickle cell disease (SCD). The signal was the agency’s validation of the company’s marketing authorization application (MAA) for Xyndari. Xyndari increases the amount of free glutamine in the…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…