A baby boy born with a rare genetic disease, CPS1 deficiency, has thrived after receiving an experimental gene editing treatment made just for him. Researchers say he’s one of the first to be successfully treated with a custom therapy that corrects a critical error in his genetic code.
The 9 ½-month-old baby, KJ Muldoon, is among the 350 million people worldwide affected by rare diseases, most of which are genetic. He was diagnosed shortly after birth and had poor odds, but his parents decided to try an experimental treatment that could change his life.
Within six months, a team of researchers created a therapy using CRISPR gene editing technology that flips mutated DNA “letters” to the correct type. The therapy has already shown promising results, with KJ able to eat more normally and recover from illnesses like colds.
While the study is still in its early stages, researchers are hopeful that this breakthrough could one day help millions of people worldwide. Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert, said that creating custom treatments doesn’t have to be prohibitively expensive, and costs may come down as the technology improves.
The use of CRISPR technology has opened up new possibilities for treating rare genetic disorders, and researchers are confident that this approach will pave the way for more advances in the field. With further research, scientists hope to unlock the full potential of gene editing therapies and make them available to those who need them most.
Source: https://apnews.com/article/crispr-gene-editing-rare-disease-mutation-chop-penn-4ab95afadde97164ae6c2450d79acbf8