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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…

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,…