Sick Baby Now Thriving After Experimental Gene Therapy

 

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 CPS1 Deficiency.  The mortality rate for infants born with this deficiency is about 50% because CPS1 keeps the body from removing ammonia in the blood, which can lead to toxic buildup that can be fatal for ½ 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 also fighting common illnesses off better.

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