Thursday, 15 May, 2025
NIH-supported gene-editing platform gives groundwork to develop rapid treatment for other rare genetic diseases.
A research team supported by the National Institute of Health (NIH) has developed and safely distributed an individual gene editing therapy to treat an infant with incurable genetic disease. The infant, which was diagnosed shortly after birth, was diagnosed shortly after birth with a rare condition carbamoyal phosphate synthetz 1 (CPS1) deficiency. The process ranging from diagnosis to treatment took only six months and the technique was successfully deployed for the first time to treat a human patient. The technique used in this study was developed using a platform that can be tickled to treat a wide range of genetic disorders and opens the possibility of creating personal treatment in other parts of the body.
A team of researchers at the Children’s Hospital in Philadelphia (Chop) and the Perelman School of Medicine at the University of Pennsylvania (Pen) developed adapted therapy using the gene-editing platform. crisprHe corrected a specific gene mutation in the child’s liver cells, causing the disorder. CRISPR is an advanced gene editing technique that enables accurate changes to DNA inside living cells. This is the first known case of a personal crispr-based drug administered to a single patient and was carefully designed to target non-reproductive cells so that changes only affect the patient.
“As a platform, gene editing-pun: promises a new era of accurate drug for hundreds of rare diseases manufactured and rarely on rapid adaptation, when the time matters the most, from time to time brings life-long remedies for patients: Initial, fast, and individual, and the person’s National Center for Advanced of NCD (NIH’s National Center for Advancen’s National Sciences (NCD’s National Center for Advanced (
The deficiency of CPS1 is characterized by inability to completely break from protein metabolism in the liver, making ammonia to a toxic levels in the body. It can cause severe damage to the brain and liver. Treatment involves a low protein diet until the child becomes enough for a liver transplant. However, in this waiting period, there is a rapid risk of organ failure due to stresses such as infection, trauma or dehydration. High levels of ammonia can be coma, brain inflammation, and fatal or permanent brain damage.
The child initially received a very low dose of therapy at the age of six months, then later a high dose. The research team indicated that therapy was almost effective from the beginning. The six -month -old old began taking more protein in the diet, and the care team can reduce the drug required to keep the level of ammonia in the body low. After the child’s improvement, the child came after the cold, and later, had to deal with a gastrointestinal disease. Generally, in this situation such infections can be extremely dangerous for a child, especially the possibility of reaching dangerous levels in the brain with the possibility of ammonia.
“We knew that the method used to give gene-editing machinery to the child’s liver cells allowed us to give us frequent treatment. This means that we can start with a low dose that we were sure that we were safe,” Chop Pediatrician Rebecca Ahrens-Nickels, MD, Ph.D.
Penn Geneticist and first writer Kiran Mussunuru, MD, Ph.D. For now, a lot of work remains, but researchers are carefully optimistic about the child’s progress.
Scientists announced their work at the American Society of Jean and Sale therapy meeting on 15 MayWan And described in the study The New England Journal of Medicine,
The money for this project was provided by NIH Common Fund Somatic cell genome editing Program Grants, U01TR005355, U19NS132301, U19NS132303, DP2CA281401, and National Heart, Lung, and Blood Institute R35HL145203 and P01hl142494. The contribution to the study was contributed by acuitas theraputics, integrated DNA Technologies, Aldevron and Danaher Corporation. Additional funds were provided by gene therapy of the Chop Research Institute for the frontier program of inherited metabolic disorders.
About National Institute of Health (NIH): NIH, the country’s medical research agency, includes 27 institutions and centers and is a component of the US Health and Human Services Department. NIH is the primary federal agency that is conducting and supporting basic, clinical and translational medical research, and is investigating the causes, treatments and treatment for both common and rare diseases. For more information about Nih and its programs, travel www.nih.gov,
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Reference
Mussunuru et al, “Patient-specific in Vivo gene editing to treat a rare genetic disease.” An Angl J Made. Online May 15, 2025. Doi: 10.1056/nejmoa25047477
