Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes?

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 ...

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.

Whether you inherit alpha- or beta-thalassemia depends on which genes are affected. The number of affected genes can determine the subtype of alpha- or beta-thalassemia and the severity of your ...

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 ...

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 ...

(MEMPHIS, Tenn. – October 12, 2022) Scientists at St. Jude Children’s Research Hospital have shown how a protein responsible for adapting to low oxygen conditions (hypoxia), causes increased ...