This article details advancements in personalized medicine. Specifically, how this experimental therapy helped a once-sick baby now prosper. KJ Muldoon, the ill baby, was born with a rare and life-threatening condition called Carbamoyl phosphate synthetase I deficiency, or CPS I Deficiency. The mortality rate for infants born with this deficiency is about 50% because CPS I keeps the body from removing ammonia in the blood, which can lead to toxic buildup that can be fatal for 1/2 of the cases. Researchers at CHOP and Penn Medicine thought that a base editing technique could fix the mutation. They used precise technology known as CRISPR methods. This involved "cutting" DNA to change one letter, and therefore, fix the mutation. How did this work out for KJ Muldoon? According to the article, he is growing, and he can eat a more regular diet. His body is fighting common illnesses off better, as well.
Picture Picture & Article: https://www.pbs.org/newshour/science/experimental-gene-editing-helped-a-desperately-ill-baby-thrive-scientists-say-it-could-someday-treat-millions
Second Article: https://almanac.upenn.edu/articles/medical-miracles-at-penn-medicine-breakthrough-with-customized-crispr-treatment-for-patient-with-cps1
It is amazing to see how researchers were able to target and correct a life threatening mutation. This highlights the potential of genetic therapies to treat rare diseases that previously had very limited treatment options.
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