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 ...

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 ...

DNA sequences located in a region 6-18 kilobases (kb) upstream from the human ε-globin gene are known as the locus-activating region (LAR) or dominant control region. This region is thought to play a ...

Figure 1: Spatial organization of the mouse β-globin locus. Figure 2: A developmental switch occurs in contacts between individual β-globin genes and the core ACH of the mouse β-globin locus. Figure 3 ...

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 ...

The cloned chromosomal rabbit $\beta $-globin gene has been introduced into mouse fibroblasts by DNA-mediated gene transfer (transformation). In this report, we examine the expression of the rabbit ...

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 ...

In 1976, my final year of medical school, I travelled abroad and spent several months working in the hematology clinic at Hadassah Hospital, in Jerusalem. Every day, I attended to children and ...

The evolution of biomedical science can be appreciated through studies of hemoglobin, the oxygen-carrying protein in red cells. Before molecular cloning, the geneticist Arno Motulsky noted, “Many ...

Scientists at St. Jude Children's Research Hospital have shown how a protein responsible for adapting to low oxygen conditions (hypoxia), causes increased expression of fetal hemoglobin (HbF) in ...

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.