In world's first, doctors customise DNA to treat baby with rare liver disorder
He was born with a severe condition called carbamoyl phosphate synthetase 1 (CPS1) deficiency, a disorder so rare it affects only one in a million births.The disease is caused by a faulty gene in the liver, leading to dangerous build-ups of ammonia in the blood, which can cause brain damage, coma, or even death. if not managed properly.The boy's case was reported in The New England Journal of Medicine (NEJM) and at a gene therapy meeting.PERSONALISED GENE EDITINGKJ was treated using base editing, a more precise and safer version of the better-known CRISPR gene editing tool.Unlike standard CRISPR, which cuts both strands of DNA, base editing changes just a single letter in the DNA sequence, which minimises the risk of any damage.Scientists and doctors from the University of Pennsylvania and Children's Hospital of Philadelphia (CHOP) custom-designed the base editor specifically to fix the mutation in KJ's CPS1 gene.advertisementBy this, they developed the entire treatment, from concept to delivery, in just six months.The editing tool was delivered through tiny fat particles called lipid nanoparticles, which were injected into KJ's bloodstream so they could reach his liver cells.HOPE AFTER THREE DOSESThough KJ still requires a special diet and medications to help control his condition, early signs suggest gene editing is working.After receiving three doses of the base editor, he can now tolerate more protein in his diet and needs less medicines to control his ammonia levels.Even more promising, KJ recently recovered from two viral infections without the usual dangerous spikes in ammonia that typically follow in such patients.According to the report, doctors did not perform a liver biopsy to confirm the gene correction directly, as it was considered too risky for the child.However, his improved condition is "strong indirect evidence" that the treatment has worked at least in part.His father, Kyle Muldoon, said during a press conference, "We're very, very happy with the results."KJ is expected to go home soon, doctors said.NOT A CURE, BUT A MAJOR STEP FORWARDWhile KJ isn't cured, he may need additional doses in the future.advertisementHowever, his cause proves that personalised gene editing for rare genetic diseases is not only possible but can be done in a matter of months.Dr. Kiran Musunuru of Penn Medicine, one of the lead researchers of the case, said, 'Our hope is that this will be the start of something that many others around the world will pick up on.'TAILOR-MADE GENOMEThe success of this personalised base editor adds to a growing list of gene therapy approaches for rare diseases.Other methods include using CRISPR-like tools to insert entire healthy genes into the genome. One such treatment recently helped another baby with a similar urea cycle disorder, allowing that child to stop medication and eat a normal diet.While these treatments are still experimental and can carry risks, such as unwanted immune responses or unintended gene edits, the scientists believe they represent the future of medicine for patients with rare and deadly genetic conditions.'This seems to be safe. And there are early signs that it's going to benefit him,' said Dr. Rebecca Ahrens-Nicklas, who helped treat KJ.This historic step in gene editing could soon change how doctors treat, not just manage, genetic diseases, one patient at a time.
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