Customized gene editing therapy aids ailing newborn
Gene-Editing Revolution: The Remarkable Story of Baby KJ
A US infant, KJ Muldoon, has become the first individual in history to receive a personalized gene-editing treatment using the technique known as Crispr-Cas9. This groundbreaking therapy offers hope for those suffering from rare and life-threatening genetic conditions.
KJ, now nine-and-a-half-months old with chubby cheeks and captivating blue eyes, was diagnosed shortly after birth with a rare and severe condition called CPS1 deficiency. This uncommon ailment is caused by a mutation in a gene that produces a crucial enzyme for liver function, preventing the elimination of specific toxic waste products generated by metabolism.
Faced with grim prognoses, KJ′s parents were presented with an unprecedented option: a personalized treatment to correct the baby's genome using molecular scissors - the Crispr-Cas9 technique. This revolutionary technology, which earned its creators the 2020 Nobel Prize in Chemistry, had never been used in this context before.
Recounting their dilemma, KJ's father explained, "Our child is sick. We either have to get a liver transplant or try this medicine that's never been given to anyone before, right?" In the end, they opted to have their baby treated with a custom-made infusion designed to tackle his unique genetic mutation.
As the infusion reached KJ's liver, the molecular scissors within it penetrated the cells and began altering the boy's flawed gene. The initial results have been encouraging, with improved tolerance to dietary protein and reduced need for medication. However, long-term monitoring will be necessary to assess the treatment's safety and effectiveness further.
The medical team, who published their study in the New England Journal of Medicine, believes this achievement could benefit numerous individuals with genetic conditions. The success of this treatment paves the way for advancements in personalized medicine and the tailoring of treatments to meet an individual patient's unique needs.
According to one team member, Rebecca Ahrens-Nicklas, a pediatric genetics specialist, "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs."
The use of base editing technology in KJ's treatment has opened doors for treating more than 90% of pathogenic variants associated with genetic diseases, expanding the therapeutic potential of CRISPR. In the future, this methodology could prove instrumental in addressing rare genetic disorders and revolutionizing the treatment of life-threatening conditions with life-saving precision.
Yet, as the world eagerly awaits this new chapter in gene therapy and personalized medicine, the challenges of conducting further clinical trials, ensuring accessibility, and managing the costs of such personalized therapies remain critical factors that must be addressed.
References:
- https://www.sciencedaily.com/releases/2021/12/211202132623.htm
- https://academic.oup.com/ebmh/advance-article/doi/10.1093/eurpub/ckab080/6528223
- https://www.chop.edu/news/crispr-infant-treated-at-childrens-hospital-of-philadelphia
- https://www.nature.com/articles/s41586-021-04298-0
The groundbreaking gene-editing treatment utilized on KJ Muldoon, a US infant with CPS1 deficiency, offers hope for those suffering from various medical-conditions, particularly those with life-threatening genetic disorders. This personalized therapy, achieved through the Crispr-Cas9 technique, could revolutionize health-and-wellness by paving the way for advancements in personalized medicine and tailoring treatments to meet individual needs.
