Children’s Hospital of Philadelphia
KJ receives the visit from Kiran Musudu and Rebecca Ahrens-Nicklas, the researchers who created the technique that treated him
A baby born with a rare and dangerous genetic disease is growing healthily after receiving experimental genetic editing treatment especially for him – a treatment that scientists say could one day treat millions of people.
A personalized genetic therapy allowed to correct a tiny error but critical in the genetic code of a baby, who kills half of the affected children.
The case, one of the first to be treated successfully with specific therapy to a patient, was presented in a published on Thursday in the The New England Journal of Medicine.
Although it may take some time until similar personalized treatments are available, doctors now expect technology to one day Help millions of people Which, even with the advancement of genetic medicine, were behind because their conditions are too rare.
“This is the first step for the use of genetic editing therapies in the treatment of a wide variety of rare genetic diseases for which there are currently no definitive medical treatments, ”he says Are you rentingresearcher at the University of Pennsylvania and first author of the study, in.
Or baby, KJ Muldoonwas born in Clifton Heights, Pennsylvania, is one of 350 Millions of people worldwide with rare diseasesmost of which are genetic. Was diagnosed after birth with Severe CPS1 deficiencywhich affects about one in every million babies.
These babies do not have an enzyme necessary to remove the ammonia of the body, which can accumulate in the blood and become toxic. In some cases, the condition can be treated with a liver transplant.
The therapy used to correct the defective KJ gene was created by a team of researchers from the Philadelphia Children’s Hospital and the University of Pennsylvania, who used the genetic editing technique, a tool that was worth the 2020 Emmanuelle Charpentier e Jennifer A. Doudna the prize.
Instead of cutting the DNA chainas in the first CRISPR approaches, the team used a technique that Change the Bases (Units that form the “steps” of the DUN Double Hélice) that are mutated by the correct base – adenine, guanine, cytosine or thymine. Known as “base edition”, the technique reduces the risk of unintentional genetic changes.
“It is very exciting that the team created the therapy so quickly“, it says Senthil Bhoopalanresearcher of genetic therapy at St. Jude Children’s Research Hospital in Memphis, who was not involved in the study. “This really establishes the rhythm and standard for these approaches“.
In February, KJ received its first infusion Intravenous with genetic editing therapy, administered through tiny fatty droplets called lipid nanoparticles that are absorbed by liver cells.
After monitoring doses in March and April, KJ has been able to eat more normally and recovered well from diseases as constipationswhich can overload the body and exacerbate the symptoms of CPS1.
Considering its unfavorable initial prognosis, KJ’s mother is very excited. ”Whenever we see even the smallest progress that kJ reaches, as a simple nod, It’s a great time for us“.
Investigators now hope that what they have learned from KJ helps other patients with rare diseases. Second Carlos MoraesProfessor of Neurology at the University of Miami, who was not involved in the study, research like this open the door for further advances.
“After someone gets a breakthrough like this, It doesn’t take much time Until other teams apply the lessons and advance too, ”predicts Moraes.“ There are barriers, but they will be exceeded in the next five to ten years. So this whole field will advance in block, because We are practically ready“.
