In the United States, a person with a rare hereditary disease has been treated with a personalized method, the so -called genome processing. As a Thursday treated doctors, the tailor -made therapy was used for the now nine and a half month -Oold KJ Muldoon.
Shortly after birth, the life-threatening hereditary disease CPS1 deficiency was diagnosed shortly after birth. The new Awakens therapy hopes for other people with rare hereditary diseases. In therapy, the so-called CRISPR/CAS9 technology-also known as Genschaar-where the developers had received the chemical Nobel Prize in 2020.
In people with a CPS1 deficiency, a gene is mutated that produces an enzyme that is decisive for liver function. For the affected ones, certain toxic metabolic waste products have therefore not been broken down.
“If you go Google, CPS1 deficiency”, something comes to the death rate or liver transplantation, “said the baby’s mother, Nicole Muldoon, in a video published by the Treat Children’s Hospital in Philadelphia.
Liver transplantation as an alternative
Given the poor prediction, KJS doctors suggested something that has never tried before: a personalized treatment to repair the genetic material of the baby with the help of a hen scissors. The decision about that was extremely difficult, said KJ’s father.
“Our child is sick. We will have a liver transplant or give him this medicine that has never been administered before, is it correct?” Kyle summarized Muldoon. In the end, the parents decided the treatment documented in a study published on Thursday in the magazine “New England Journal of Medicine”.
A genmedication was “designed” for KJ, said Rebecca Ahrens-Nicklas of the child’s medical team. It is tailored to its gene variants and therefore really “personalized medicine”. KJ received the first infusion with the customized medication in February, followed by two more. The GenSchaar contained the liver cells in it to restore the defective genes there.
Long -term observation is necessary
After the treatment, KJ can now eat more protein -rich foods that would have harmed him earlier because of his hereditary disease. Moreover, he no longer needs as many medicines as before gene therapy. How safe and effective the treatment is can only show long -term observation.
Ahrens-Nicklas hope that one day KJ only has to take a few or no medicines. “We hope that he is the first of many to benefit from a method that can be adapted to the individual needs of the patient,” the doctor said.
In April, KJ received a total of three doses of gene therapy – so far without serious side effects, as the children’s hospital in Philadelphia announced.
Source: Krone
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