A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him, the Associated Press reports.
Researchers described the case in a new study, saying he’s among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants. Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare.
“This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,” said Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine.
The baby, KJ Muldoon of Clifton Heights, Pennsylvania, is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some.
Within six months, the team at Children’s Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ’s faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020.
Emmanuelle Charpentier of France and Jennifer A. Doudna of the United States won for developing CRISPR-cas9, a very simple technique for cutting a gene at a specific spot, allowing scientists to operate on flaws that are the root cause of many diseases.
Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA “letter” — also known as a base — to the correct type. Known as “base editing,” it reduces the risk of unintended genetic changes.
Nobel laureate Emmanuelle Marie Charpentier revealed her Armenian identity in an exclusive interview with the Public Radio of Armenia back in 2022.
Ms. Charpentier said her grandfather escaped to France during the Armenian Genocide. “It’s a very strange story, which my father actually got to know much later. So, my name should not have been Charpentier. It should have been an Armenian name,” she said, adding that her grandfather’s surname was Sinanian.
He met Charpentier’s grandmother in Marseille, but they met again only five years after her father was born and spent all their lives together.
“My father got to know it, when he was 60 and needed to renew his ID. He then figured out that his last name Charpentier was the name of his mother,” Ms. Charpentier said.
