Editas Medicine announced results from a follow-up study to assess two different CRISPR genome editing strategies, one targeting the BCL11A erythroid enhancer and one targeting the beta-globin
locus, for the treatment of sickle cell disease and beta-thalassemia.
The gene therapy is said to work by adding functional copies of a modified form of the beta-globin
gene (betaA-T87Q-globin gene) into a patient's own blood stem cells.
The UMass study used a similar gene editing protocol to target forms of beta-thalassemia that involve splicing mutations--errors in bits of DNA near the beta-globin
gene that change how the gene is read out to assemble beta-globin
(1) HbS is caused by a single missense variation in the beta-globin
gene leading to a glutamic-to-valine substitution at the sixth residue of beta-globin
Amplification refractory mutation system-polymerase chain reaction was found to be a very sensitive method to find the known point mutations present in beta-globin
Understanding the control of the developmentally regulated switch of gene expression within the beta-globin
locus is a mainly used in today research.
The most common inherited diseases in humans result from mutations in the beta-globin
gene com-plex and the alpha-globin gene complex.
Sickle cell disease (SCD) refers to a group of autosomal recessive disorders characterized by hemoglobin S variant of the beta-globin
Sampietro et al., "Association of thalassaemia intermedia with a beta-globin
gene haplotype," British Journal of Haematology, vol.
Four protein subunits collectively form a haemoglobin molecule, two beta-globin
chains and two alpha globin chains.
Hb E is formed by a substitution of glutamic acid by lysine at codon 26 of the [beta]-globin gene as a result of a splice site mutation on exon 1 of the beta-globin