Beeke Wienert's Paper was published today!

Date: 
May 14 2015 - 9:00am

There was a lot of excitement in our lab today, as Beeke Wienert's paper was released & had articles written about it.

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

Genetic disorders resulting from defects in the adult globin genes are among the most common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is silenced. Genome editing could permit the introduction of beneficial single-nucleotide variants to ameliorate symptoms. Here, as proof of concept, we introduce the naturally occurring Hereditary Persistance of Fetal Haemoglobin (HPFH) −175T>C point mutation associated with elevated fetal γ-globin into erythroid cell lines. We show that this mutation increases fetal globin expression through de novorecruitment of the activator TAL1 to promote chromatin looping of distal enhancers to the modifiedγ-globin promoter.

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

Genetic disorders resulting from defects in the adult globin genes are among the most common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is silenced. Genome editing could permit the introduction of beneficial single-nucleotide variants to ameliorate symptoms. Here, as proof of concept, we introduce the naturally occurring Hereditary Persistance of Fetal Haemoglobin (HPFH) −175T>C point mutation associated with elevated fetal γ-globin into erythroid cell lines. We show that this mutation increases fetal globin expression through de novorecruitment of the activator TAL1 to promote chromatin looping of distal enhancers to the modifiedγ-globin promoter.