Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic disorder that severely affects the quality of life, manifests early in life, and leads to premature death. PCD is characterized by dysfunction of motile cilia that causes progressive impairment of pulmonary function and severe respiratory infections. There is no specific cure.

This study demonstrates that gene dysfunction causing PCD can be permanently eliminated. This result has been achieved by replacing the mutated with the normal sequence into defective cells. The approach used, also known as gene editing, is easily transferable to other genes affecting ciliary motility of the respiratory epithelia and opens new avenues to cure PCD, cystic fibrosis, and other genetic diseases of the respiratory tract. (By Prof. Mauro Pistello, http://jmg.bmj.com/content/early/2016/01/04/jmedgenet-2015-103539 )

Video: Cilia at the cytoplasmic membrane are beating after the genetic defect has been repair.

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