When CRISPR was introduced for the first time as a genetic publishing tool in 2012, the world was impressed by all the possibilities it held – finally winning its discoverers the Nobel Prize for Chemistry in 2020. Now, after years of refining technology and clinical test management, the gene editor has made a major jump to personalized medicine.
As Kiran Musunuru, Translational Research Professor at the Penn’s Perelman School of Medicine, put it in a press statement“The promise of gene therapy that we have heard of for decades is materialized, and this will completely transform the way we approach medicine.”
Musunuru and a team from the Children’s Hospital in Philadelphia and Penn Medicine successfully treated a little boy with a rare metabolic disorder using personalized crispr therapy. Their case studypublished in The New England Journal of MedicineDemonstrates the powerful potential of the edition of precision genes for rare diseases.
A child living with a rare disease
Ironically, rare genetic diseases are not as rare as they seem. In the United States, about 1 in 10 people live with a rare disorder. What makes them “rare” is that each individual condition generally affects less than 2,000 peopleMake research and development of treatment incredibly difficult.
One of the affected people is KJ. It was born with a deficiency in CPS1, a urea cycle disorder caused by the absence of a key enzyme that the body needs to eliminate ammonia – a toxic by -product from protein metabolism. Since liver transplants are not viable as long as patients are older, this condition has a death rate of 50% at the beginning of early childhood.
Fortunately, Musunuru and Rebecca Ahrens-Nicklas, director of gene therapy for the program inherited from Metabolic Frontier (GTIMD) disorders, have been studying this disorderly class for years and contacted KJ’s family shortly after his diagnosis.
“We thought it was our responsibility to help our child, so when the doctors came to us with their idea, we trust them in the hope that it could help not only KJ but other families in our position,” said his mother, Nicole Muldoon in the press release.
Find out more: Why metabolisms are unique and why they are important to your health
CRISPR – SCALS FOR YOUR DNA
In just six months, researchers have developed personalized treatment. In February 2025, KJ received his first infusion – a dose of CRISPR components delivered to his liver using lipid nanoparticles.
Crispr (In short for Shortly paalindromic repeats regularly stored regularly) Acts like an intelligent pair of molecular scissors. In the case of KJ, it was made to measure to find the defective gene and repair the error – as correcting a typing fault in its DNA.
After receiving several doses, KJ showed a significant improvement. He is now able to eat more protein and recover from daily childhood illnesses without the dangerous accumulation of ammonia which has once threatened his life. Even better, it had no serious side effects of treatment.
“While KJ will have to be carefully monitored for the rest of his life, our first conclusions are quite promising,” added Ahrens-Nicklas.
Widen success to more patients
This breakthrough is based on years of fundamental research and collaboration. For KJ and his family, the little boy’s apparently endlessly endless hospital stays now.
“We are delighted to finally be able to be at home together so that KJ can be with his brothers and sisters, and we can finally regain a deep inspiration,” said his father, Kyle Muldoon, in the press release.
“Years and years of progress in gene publishing and collaboration between researchers and clinicians have made this moment possible, and although KJ is just a patient, we hope that he is the first to benefit from a methodology that can be set up to meet the needs of an individual patient,” added Ahrens-Nicklas.
This affair offers a way of hope – another where the edition of the genes can now keep its brilliant promise to save patients without other treatment options.
This article does not offer medical advice and should be used for information purposes only.
Find out more: CRISPR eliminates targeted tumors of 50%
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Having worked as a biomedical research assistant in laboratories in three countries, Jenny excels in translating complex scientific concepts – ranging from medical breakthroughs and pharmacological discoveries to the last nutritions – into accessible and engaging content. His interests extend to subjects such as human evolution, psychology and stories of eccentric animals. When it is not immersed in a popular scientific book, you will find it to catch waves or sail on the island of Vancouver on its longboard.
