A child with a rare genetic disorder treated by gene editing therapy.
With constant research and advancement in gene editing therapies, a serious breakthrough has been experienced after doctors in the USA becoming the first to treat a baby with a customised gene-editing therapy. The child wast diagnosed with a rare and severe genetic disorder that kills about half of those affected in early infancy.
Ian Sample explained to Madeleine Finlay how this new therapy works and how it paves the way for even more complex gene editing techniques.
International researchers have hailed the feat as a medical milestone, saying it demonstrates the potential for treating an array of devastating genetic diseases by rewriting faulty DNA soon after affected children are born.
“While KJ (the treated child) is just one patient, we hope he is the first of many to benefit,” said Dr. Rebecca Ahrens-Nicklas, a senior physician on the team. She also said that the breakthrough was made possible by “years and years of progress” in gene editing“.
KJ was born with severe CPS1 deficiency, a condition that affects only one in 1.3 million people. Those affected lack a liver enzyme that converts ammonia, from the natural breakdown of proteins in the body, into urea so it can be excreted in urine. This causes a build-up of ammonia that can damage the liver and other organs, such as the brain.
While some patients receive liver transplants for CPS1 deficiency, babies with severe disease can have suffered damage by the time they are big enough to operate on.
CRISPR (clustered regularly interspaced short palindromic repeats)-based gene editing can precisely correct disease-causing variants in the human genome.
Gene editing tools are incredibly complex and nuanced, and up to this point, researchers have built them to target more common diseases that affect tens or hundreds of thousands of patients, such as the two diseases for which there currently are U.S. Food and Drug Administration-approved therapies, sickle cell disease and beta thalassemia.
A Collaborative Effort
Ahrens-Nicklas and Kiran Musunuru, MD, PhD, the Barry J. Gertz Professor for Translational Research in Penn’s Perelman School of Medicine, who are co-corresponding authors on the published report, began collaborating to study the feasibility of creating customized gene editing therapies for individual patients in 2023, building upon many years of research into rare metabolic disorders, as well as the feasibility of gene editing to treat patients.
“We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life. The promise of gene therapy that we’ve heard about for decades is coming to fruition, and it’s going to utterly transform the way we approach medicine.”
