Gene-editing Technique in Mice Shows Promise for Genetic Disorder in Utero

 

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New research presents a promising new avenue for research into treating genetic conditions during fetal development.
Credit: © llhedgehogll / Fotolia

Each year roughly 16 million parents receive the heartbreaking news that their child is likely to be born with a severe genetic disorder or birth defect. And while these genetic conditions can often be detected during pregnancy, using amniocentesis, there haven’t been any treatment options to correct these genetic conditions before birth. Well – thanks to a group of researchers at Carnegie Mellon University and Yale University that could one day change and offer alternative treatment options for children with genetic disorders while they are still in the womb.

For the first time ever, according to a Carnegie Melon press release, scientists used a gene editing technique to successfully cure a genetic condition in a mouse in utero. Their findings, published in Nature Communications, not only present a promising new avenue for research into treating genetic conditions, but they also open the doors for additional treatment options in the future.

In this study, the researchers used a synthetic molecule called a peptide nucleic acid (PNA) as the basis for a gene editing technique. They had previously used this method to cure beta-thalassemia, a genetic blood disorder that results in the reduced production of hemoglobin, in adult mice. Their technique uses an FDA-approved nanoparticle to deliver PNA molecules, paired with donor DNA, to the site of a genetic mutation. When the PNA-DNA complex identifies a designated mutation, the PNA molecule binds to the DNA and unzips its two strands. The donor DNA then binds with the faulty DNA and spurs the cell’s DNA repair pathways into action, correcting the error.

The researchers believe that their technique might even be able to achieve higher success rates if they can administer it multiple times during gestation. They also hope to see if their technique can be applied to other conditions.

While this research is promising there is a long way to go before the team will be ready to test it in people. However, one CIRM-supported project has already reached that milestone. Dr. Tippi MacKenzie and her team at UCSF are using in utero blood stem cell transplants from the mother to the fetus to help treat alpha thalassemia major, a blood disorder that is almost always fatal.

We recently blogged about this research and how it helped one couple deliver a healthy baby.

https://blog.cirm.ca.gov/2018/06/04/cirm-funded-study-results-in-the-first-ever-in-utero-stem-cell-transplant-to-treat-alpha-thalassemia/

 

 

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