According to a story from EurekAlert!, a group of researchers affiliated with Penn Medicine and Children’s Hospital of Philadelphia recently conducted an experiment in which the scientists used CRISPR gene editing technology to alter the genetic makeup of mice that were modeled with a rare genetic defect that would have caused fatal lung problems just hours after the animals were born.
The results of this proof of concept study provide further support for using gene editing approaches to help cure or treat disease before the patient is born. The researchers were not sure if the approach would be successful but they were able to direct CRISPR to specifically target the cells that were affected by the lethal mutation. This lead to the successful survival of the mice.
Treating Congenital Lung Diseases
How would the findings of this study translate into treating human patients? There are a number of congenital lung disorders that could theoretically be treated using this approach, such as cystic fibrosis, alpha 1 antitrypsin deficiency, and surfactant protein deficiency. These are all illnesses that are characterized by breathing complications that can range in severity from total respiratory failure soon after the patient is born to chronic progressive lung disease that cannot be halted with currently available therapies.
Respiratory disorders comprise a significant percentage of hospitalizations involving children, at around 22 percent. To put it another way, this means that almost a fourth of pediatric hospital admittances are the result of lung related problems. The ability to intervene in these diseases before birth is appealing because, if successful, it could theoretically prevent the onset of symptoms before they ever have a chance to appear in the first place. If breathing problems are present at birth, the baby’s life is immediately in danger and doctors are under the gun to keep the child alive. This is another reason why this approach is appealing.
The procedure requires precise timing. These mice were administered treatment four days before being born, which is roughly equivalent to the third trimester in humans. Ultimately, proof of concept experiments such as these pave the way for potential human trials that could have a major impact on how congenital lung disorders are treated.
The original study was published in Science Translational Medicine.