The discovery of a ‘switch’ that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.
Researchers from the Walter and Eliza Hall Institute made the discovery while investigating foetal development in an animal model of DiGeorge syndrome. DiGeorge syndrome affects approximately one in 4000 babies.
Dr Anne Voss and Dr Tim Thomas led the study, with colleagues from the institute’s Development and Cancer division, published today in the journal Developmental Cell.
View the original article here: Gene ‘switch’ may explain DiGeorge syndrome severity
