Gene editing has come a long way as a treatment option in the last several years. Rapid advances in technology continue to find more and more novel therapies. According to a PRNewswire report, scientists recently performed the first ever prenatal gene editing therapy. Scientists used the new technique to treat a rare case of tyrosinemia. Research from Children’s Hospital of Philadelphia, and Perlman School of Medicine at the University of Pennsylvania provides supporting evidence and proof for the method used. Keep reading to learn more, or follow the original story here for additional details.
What is Tyrosinemia?
Tyrosinemia (TYR) is an inherited metabolic disorder. TYR prevents the body from properly breaking down an amino acid called tyrosine. Tyrosine is a common component of protein. Depending on the type of tyrosinemia it may result in serious health risks and it can even be potentially fatal.
Type 1 tyrosinemia typically occurs during infancy. Gastrointestinal problems are common. Some children may become jaundiced, experience rickets, or kidney dysfunction. Type 2 TYR most commonly affects mood and behavior. It may also cause other cognitive and developmental difficulties. Type 3 TYR is the rarest form. It is characterized by cognitive symptoms such as seizures, vertigo, and problems with the gait.
As Soon as Possible
Diagnosing and treating diseases early can be the key to improving and saving lives. With that fact in mind, there is no earlier time to correct a disorder than before a child is even born.
In recent research, scientists were able to model this form of treatment in groups of mice. Using gene editing tools based on CRISPR technology, researchers succeeded in regulating cholesterol levels in utero. A similar test shows how researchers manipulated genes to improve liver function in mice with hereditary tyrosinemia type 1 (HT1). The changes made in the HT1 mouse group not only improved liver function, but saved the lives of these mice.
HT1 often develops during infancy in human children and is regulated with drug therapy and strict dieting. When treatment is ineffective, however, the results are fatal. This form of early detection and treatment could prevent the disease altogether.
Investigating safety should be a major concern in any medical endeavor. Researchers are open in admitting that there is much to do in regards to safety when it comes to prenatal gene editing. The current technique employs adenovirus vectors to deliver treatment. Existing research, however, shows that these may have unintended and sometimes dangerous effects on the immune system. As such, other vectors are being investigated. Lipid nanoparticles are one possible alternative. A large amount of work remains to be done before these techniques will be ready for clinical trials with human patients.