The baby suffered from a rare genetic disease and had two prospects: moving liver or death.
A nine-month-old American with a rare metabolic disease is the first patient in the world to receive individual genetics using molecular scissors (CRISPR-CAS9). In 2020, this technology received the Nobel Prize in Chemistry, reports CrisPr Medicine News and Children’s Hospital of Philadelphia.
Doctors say that without this technology, the child would have to survive the liver.
After birth, Jay Maldun revealed a severe metabolic violation – a lack of phosphates of carbamoil -sphatsinetase 1 (CPS1). This genetic disease is caused by gene mutations that denote a key enzyme for the liver. The disease prevents the body from eliminating toxic waste of metabolism.
“If you look for Google, what CPS1 is, you’ll see: either death or liver transplant,” said boy’s mother Nicole Maldun.
Doctors offered therapy to the experimental family using CrisPR-CAS9 technology.
“Our son was seriously ill. We had a choice: either a liver transplant, or treatment they had never made to anyone before … it was a very difficult decision,” commemorated Father Kyle Maldun.
Despite the fear, the couple will come down. In February, the child introduced the first infusion, and then two more.
“This treatment was created exclusively for Jay, adapted to his unique genetic options. This is a truly personalized drug,” explained doctor Rebecca Arenas -Nicklas, and the geneticist of children’s medicine.
After the administration of the drug, molecular scissors enter the core of the liver cells and try to change the defective gene. According to doctors, the therapy results promise.
Now Kay Jay can consume more protein and require a significant smaller amount of drugs. However, as the doctor emphasizes, long -term observation is required to fully evaluate the safety and effectiveness of the treatment.
Doctors hope that this breakthrough will allow the child to live “with a minimum number of drugs or they are not at all”, and will be the basis for therapies adapted to the needs of other patients.
Earlier it was reported that LVIV doctors had saved the patient with a rare tumor.
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Source: korrespondent
I am Ben Stock, a passionate and experienced digital journalist working in the news industry. At the Buna Times, I write articles covering technology developments and related topics. I strive to provide reliable information that my readers can trust. My research skills are top-notch, as well as my ability to craft engaging stories on timely topics with clarity and accuracy.