Ten newborns with rare genetic diseases, known as boy blister disease, were cured with genetic therapy . Treatment seems to completely deprive children of their immune disorder without side effects or complications – the result that scientists have been looking for decades through careful research and disappointing failure.
The previous attempt to use gene therapy for the treatment of severe combined immunodeficiency disease, or SCID, was stopped in 2003 after researchers realized that therapy gave children cancer. The treatment that was released on Wednesday does not have such adverse side effects, and experts hope that it can help cure other rare genetic disorders, such as sickle cell disease.
"This is a change of game," said Jennifer Hemall, a pediatric immunologist. at the Philadelphia Children's Hospital, which was not involved in the study. "For immunologists who follow this disease, gene therapy has always been a hope for the future. It's interesting when this wave of treatment really becomes a reality. "
Infants with SCID are essentially born without functioning of the immune system. Without treatment, they rarely experience their first birthday and can be killed by infections as harmless as a common cold. Such children once remained isolated in sterile conditions, generating the term "boy-bubble". Their unusual situation attracted the attention of national cinematographers and television shows.
Survival in recent years has increased with arrival. large-scale screening tests and refreshing rescue procedures such as bone marrow transplantation. Such treatment has come about with complications, often leaving children dependent on regular infusion of immunoglobulin or causing their new immune system to attack their own body.
New gene therapy – developed by San Francisco's Benioff UCSF Children's Hospital and Children's Hospital and published in the New England Journal of Medicine – corrects the genetic defect of DNA in children after their birth, inducing their bodies to generate missing parts of their immune system.
In an interview, researchers stated that they first extracted blood stem cells from bone marrow infants. They used a modified virus as a means to deliver the correct copy of the defective gene in the stem cells of these patients. Then, these corrected cells were re-poured back into the patient, where they spread and created healthy immune cells.
In order to avoid the accidental inclusion of cancer-causing genes, as was done by previous gene therapy, researchers have incorporated "isolates" into the virus, so that adjacent genes cells will not be affected when the virus enters it in DNA. In another innovation, researchers gave their children a small amount of chemotherapy to clear existing cells from the bone marrow before they were re-embedded in treated cells, giving the adjusted cells more chance of doing.
in the children's research hospital of St. Their team leader and senior author on paper, Brian Sorrentino, spent the last months of their lives in racing against fatal cancer to complete their work on experimental treatments.
Sorrentino was diagnosed at a young age with Hodgkin's lymphoma, saying that his widow, Susanna Sorrentino. Since modern treatments did not exist, his doctors treated him using radiation that weakened his heart and caused lung cancer that killed him in November last year.
"Losing hair, pain and agony of treatment is what made him find new ways to treat other diseases in children," – said his wife in an interview