The transient and specific formation of chromatin loops is known to juxtapose genes and their distant enhancers, thus enabling gene expression. The mechanistic relationship between looping and ...

Mandy Boontanrart, PhD, a postdoc at ETH Zurich in Switzerland, has a particularly personal motivation for her research on a novel genetic therapy for sickle cell disease (SCD). She is a carrier of a ...

FIGURE 1. Distribution of different genotypes with α-globin gene triplication in 73,967 subjects. (A) Gender distribution. (B) The proportion of different genotypes among 1,443 α-globin gene ...

Splice-site mutations in the beta-globin gene can lead to aberrant transcripts and decreased functional beta-globin, causing beta-thalassemia. Triplex-forming DNA oligonucleotides (TFOs) and peptide ...

The hemoglobinopathies, disorders that are caused by mutations in genes that encode the “adult” globins, exert a devastating toll on patients and their families. Worldwide, approximately 300,000 ...

The blood protein hemoglobin and its relative, myoglobin, carry and store life-giving oxygen in many animals. Researchers long thought these complex proteins, with their unique fold, were the only two ...

Thalassemia is a common genetic condition affecting red blood cells. Children with severe forms of thalassemia often develop symptoms early in life, but effective treatment can manage the condition.

Sickle cell disease is characterized by the painful recurrence of vaso-occlusive events. Gene therapy with the use of LentiGlobin for sickle cell disease (bb1111; lovotibeglogene autotemcel) consists ...

People with the thalassemia trait, or thalassemia carriers, may not experience any symptoms. However, some thalassemia carriers can experience anemia symptoms, such as paleness and fatigue. In people ...

Thalassemia is an inherited disease that affects the blood. The genetic features are present from birth. Children with severe thalassemia will require regular blood transfusions. Thalassemia causes ...

Scientists have revealed an entirely new mechanism through which hemoglobin gene expression is regulated by stress. Our ability to breathe oxygen is critical to our survival. This process is mediated ...