The study, performed by biologists at the Children’s Hospital of Philadelphia, was a form of genetic utero editing was performed using an animal model. The researchers successfully blocked a harmful mutation that causes death within hours after birth. The success paves the way for a new approach for treating lung diseases before birth.
The CRISPR technique was applied to gene tied to surfactants, a crucial lipoprotein that reduces lung surface tension and enables normal lung function. The lung disease that was cured was surfactant protein deficiency, a progressive disorder that leads to severe lung disease and, where patients survive, requiring mechanical ventilation and even cardiopulmonary bypass.
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To achieve this, the scientists carefully timed an in utero delivery of CRISPR gene-editing reagents into the amniotic fluid during fetal development. This precise process resulted in targeted changes in the lungs of mice. The required changes occurred to alveolar epithelial cells and airway secretory cells lining the lung airways of the rodents.
What is CRISPR?
CRISPR (an acronym for Clustered regularly-interspaced short palindromic repeats), as Digital Journal has reported (see: “Is CRISPR technology set to change biological science?”), is a form of biological cut-and-paste technology which enables scientists to detect a gene defect within living cells and then apply molecular “scissors” to make changes. Such changes include deleting the gene; repairing it; or completely replacing it.
The new procedure stands as a midpoint between early embryo editing (where genetic alterations can be passed to future generations) and editing after birth, which, in the case of the lung disease, would be too late for patients. While the results were successful for some of the rodents (100 percent would be expected to die), further research is required. With these studies, the prenatal gene editing to inactivate the mutant gene resulted in improved lung morphology and survival of 22 percent of the animals.
According to principal scientist William H. Peranteau: “The ability to cure or mitigate a disease via gene editing in mid- to late gestation before birth and the onset of irreversible pathology is very exciting. This is particularly true for diseases that affect the lungs, whose function becomes dramatically more important at the time of birth.”
The research study has been reported to the journal Science Translational Medicine, with the research paper titled “In utero gene editing for monogenic lung disease.”
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