Advances in Gene Editing Technology

Overview of CRISPR-Cas9

Recent advancements in gene editing technology have opened new avenues for addressing genetic and congenital diseases. The primary system used for gene editing is known as CRISPR-Cas9, a revolutionary genome editing technique derived from the immune systems of bacteria. This innovative system enables researchers to remove or repair defective genes or modify entire segments of DNA within cells.

Pioneering Prenatal Gene Editing

A collaborative team from the Children’s Hospital of Philadelphia and the University of Pennsylvania has achieved a significant milestone by performing prenatal gene editing for the first time. Their study, published in Nature Medicine, involved experiments conducted on mice and may pave the way for future prenatal treatments of congenital diseases in humans.

Study on Hereditary Tyrosinemia Type 1

The mice utilized in this research were affected by a life-threatening liver condition known as hereditary tyrosinemia type 1 (HT1). In human infants, HT1 is typically diagnosed shortly after birth and can be managed through a strict diet and medication. However, if these interventions prove ineffective, patients face the risk of liver failure or liver cancer. The ability to treat HT1 in utero could potentially avert the onset of the disease.

Methodology and Results

The researchers injected a specially designed CRISPR-Cas9 system into the fetal mice to target and edit the genes responsible for HT1. The team monitored the mice for three months following their birth and reported long-term success in treating the condition.

Future Implications

The findings of this study provide a promising proof-of-concept for the feasibility of prenatal gene editing. The researchers express hope that this methodology can be adapted to address other congenital diseases in the future. However, substantial further research is necessary before applying prenatal gene editing techniques in humans.

References

Rossidis AC, Stratigis JD, Chadwick AC, et al. In utero CRISPR-mediated therapeutic editing of metabolic genes. 2018. Nature Medicine 24:1513-1518.
Guided by CRISPR, prenatal gene editing shows proof-of-concept in treating disease before birth [Internet]. EurekAlert!. 2018 [cited 24 October 2018]. Available from: https://www.eurekalert.org/pub_releases/2018-10/chop-gbc100518.php