A baby boy born with a rare genetic disease is thriving after receiving an experimental gene editing treatment made specifically for him. KJ Muldoon, the nine-and-a-half-month-old from Pennsylvania, was diagnosed shortly after birth with severe CPS1 deficiency, which affects around 1 in a million babies.
CPS1 deficiency prevents the body from removing ammonia from the bloodstream, leading to toxic buildup and potentially fatal complications. A liver transplant is often considered an option for affected infants. However, the Muldoon family chose to pursue an innovative therapy that uses CRISPR gene editing to correct KJ’s faulty genetic code.
The treatment, known as “base editing,” was developed by a team at Children’s Hospital of Philadelphia and Penn Medicine, who worked closely with partners to create a customized therapy. This approach reduces the risk of unintended genetic changes, making it a promising solution for rare genetic disorders.
In just six months, KJ began receiving IV infusions with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells. Since then, he has shown significant improvement, including being able to eat more normally and recovering well from illnesses like colds.
The breakthrough comes as researchers hope to expand this technology to help millions of people worldwide who suffer from rare genetic disorders with currently no definitive treatments. Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert, believes that creating custom therapies can be done at an affordable price, potentially lowering costs for future treatments.
This pioneering study marks the beginning of a new era in treating rare genetic disorders. As scientists continue to refine and improve this technology, it is expected that the cost will decrease, making it more accessible to those who need it most.
Source: https://www.ksl.com/article/51313701/gene-editing-helped-a-desperately-ill-baby-thrive-scientists-say-it-could-someday-treat-millions