Researchers Produce Gene Editing Techniques for Treatment of Rare Genetic Disease

Researchers from the Perelman School of Medicine explored CRISPR gene editing techniques that can be used for potential treatments of Phenylketonuria (PKU). The two methods may be used for further research in the field of medical applications.

Phenylketonuria is a newborn genetic disease that causes the phenylalanine (Phe) amino acid to accumulate in the bloodstream. Impacts of uncontrolled PKU include intellectual disability, seizures, and psychiatric issues. There are current therapies that help with this disease, but patients need to observe meticulous, lifelong compliance, which may be challenging to do.

In order to help with this disorder, a team of researchers studied a prime editing approach that may correct the PAH c.1222C>T genetic variant that causes the condition. The team experimented on the liver of mice and human liver cells and proved the effectiveness of the method.

The research team also has another study where they used base editing for Phenylketonuria treatment. Their results showed that the phenylalanine levels returned to normal within 48 hours. Related studies even demonstrated an observed reduction in phenylalanine levels for a year.

For more information, read the news release of Penn Medicine.