Genetic edition saves baby and can help millions, scientists say

A baby who was born with a rare and dangerous genetic disease is growing and thriving after receive a Experimental genetic editing treatment made especially for him.

Researchers described the case in a new study, stating that it is among the first to be treated successfully with personalized therapy Which seeks to correct a small but critical mistake in its genetic code that kills half of the affected babies. Although it may take some time until similar personalized treatments will be available to others, doctors expect technology to one day help the millions of people who have been behind, even with the advancement of genetic medicine, as their conditions are so rare.

“This is the first step towards the use of genetic editing therapies to treat a wide variety of rare genetic diseases for which there are currently no definitive medical treatments,” said Dr. Kiran Musudu, a genetic edition specialist at the University of Pennsylvania, co-author of the study published on Thursday at the New England Journal of Medicine.

The baby, KJ Muldoon, by Cliftton Heights, Pennsylvania is one of 350 million people worldwide with rare diseases most of which are genetic. It was diagnosed shortly after birth with severe CPS1 disabilities, which, according to estimates from some experts, affects about one in every million babies. These babies do not have an enzyme necessary to help remove ammonia from the body, so that it can accumulate in the blood and become toxic. A liver transplant is an option for some.

Knowing the chances of KJ, parents Kyle and Nicole Muldoon, both 34, were concerned about losing him.

“We were, like, you know, evaluating all the options, asking all the questions about liver transplant, which is invasive, or something that has never been done before,” said Nicole.

“We prayed, we talked to people, collected information, and finally decided that this was the way we should go,” added her husband.

In six months, the team of the Children’s Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy to correct the defective KJ gene. They used CRISPR, the genetic editing tool that earned their inventors the Nobel Prize in 2020. Instead of cutting the DNA tape as the first CRISPR approaches, doctors employed a technique that reverses the “letter” of Mutated DNA – also known as the basis – for the correct type. Known as “base editing”, it reduces the risk of unintentional genetic changes.

It is “very exciting” that the team created therapy so quickly, said Senthil Bhoopalan, a genetic therapy researcher at St. Jude Children’s Research Hospital in Memphis, who did not participate in the study. “This really defines the rhythm and pattern for such approaches.”

In February, KJ received its first intravenous infusion with genetic editing therapy, administered through small fat droplets called lipid nanoparticles, which are absorbed by liver cells.

Although the room was full of enthusiasm that day, “he slept throughout the process,” recalled the study author, Dr. Rebecca Ahrens-Nicklas, a Chop Genetic Therapy expert.

After the monitoring doses in March and April, KJ was able to feed more normally and recovered well from diseases such as colds, which can overload the body and aggravate the symptoms of CPS1 syndrome. The 9 and a half month old baby also takes fewer medications.

Considering his previous bad prognosis, “every time we see the slightest milestone he is reaching – such as a small wave or rollover – this is a great time for us,” his mother said.

Still, the researchers warn that only a few months passed. They will need to observe it for years.

“We are still in the early stages of understanding of what this medicine may have done with KJ,” said Ahrens-Nicklas. “But every day, he shows us signs that he is growing and developing.”

The researchers expect what they have learned from KJ to help other patients with rare diseases.

Genetic therapies, whose development can be extremely expensive, usually target more common disorders, partly for simple financial reasons: more patients potentially mean more sales, which can help pay development costs and generate more profit. The first CRISPR therapy approved by the US Food and Drug Administration (FDA), for example, treats sickle cell anemia, a painful blood disease that affects millions of people worldwide.

Musudu said his team’s work – partly funded by national health institutes – showed that creating personalized treatment does not need to be prohibitively expensive. The cost “was not too far from the more than $ 800,000 of a liver transplant and related care, he said.

“As we increasingly improve in the production of these therapies and further shorten the deadline, the economies of scale will take action and I hope the costs will decrease,” said Mudunuru.

Scientists will not need to redo all the initial work every time they create personalized therapy, said Bhoopalan, so this research “prepares the scenario” for the treatment of other rare conditions.

Carlos Moraes, professor of neurology at the University of Miami who did not participate in the study, said research like this open doors for further advances.

“When someone has a breakthrough like this, it won’t be long” so that other teams apply the lessons and advance, he said. “There are barriers, but I predict that they will be overcome over the next five to ten years. Then the whole field will move like a block, because we are practically ready.”

Day of care for the care of the premature baby is recognized

This content was originally published in genetic edition saves baby and can help millions, scientists say on CNN Brazil.

Source: CNN Brasil