Gene Editing Breakthrough
Introduction to Gene Editing
A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a new study, saying he’s among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants. Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare.
The Baby’s Condition
The baby, KJ Muldoon of Clifton Heights, Penn., is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some.
The Gene Editing Treatment
Within six months, the team at Children’s Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ’s faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA “letter” — also known as a base — to the correct type. Known as “base editing,” it reduces the risk of unintended genetic changes.
The Treatment Process
In February, KJ got his first IV infusion with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells. After follow-up doses in March and April, KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate symptoms of CPS1. The 9 ½-month old also takes less medication.
The Future of Gene Editing
Researchers hope what they learn from KJ will help other rare disease patients. Gene therapies, which can be extremely expensive to develop, generally target more common disorders in part for simple financial reasons: more patients mean potentially more sales, which can help pay the development costs and generate more profit. The first CRISPR therapy approved by the U.S. Food and Drug Administration, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide.
Cost and Accessibility
Musunuru said his team’s work — funded in part by the National Institutes of Health — showed that creating a custom treatment doesn’t have to be prohibitively expensive. The cost was “not far off” from the $800,000-plus for an average liver transplant and related care, he said. “As we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down,” Musunuru said.
Conclusion
The successful treatment of KJ Muldoon using gene editing therapy is a significant breakthrough in the field of genetic medicine. While there are still challenges to overcome, this achievement offers hope for the millions of people worldwide who suffer from rare genetic diseases. As research continues to advance, it is likely that gene editing therapies will become more accessible and affordable, providing new treatment options for patients who previously had limited choices.
FAQs
What is gene editing?
Gene editing is a technology that allows scientists to make precise changes to the DNA of living organisms. It has the potential to revolutionize the treatment of genetic diseases.
What is CRISPR?
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a gene editing tool that won the Nobel Prize in 2020. It allows scientists to make precise changes to the DNA of living organisms.
What is base editing?
Base editing is a type of gene editing that involves flipping a mutated DNA "letter" (or base) to the correct type. It reduces the risk of unintended genetic changes.
How much did the gene editing treatment cost?
The cost of the gene editing treatment was "not far off" from the $800,000-plus for an average liver transplant and related care.
Will gene editing therapies become more accessible and affordable?
Yes, as research continues to advance, it is likely that gene editing therapies will become more accessible and affordable, providing new treatment options for patients who previously had limited choices.
