A Baby Is Healed Using Gene-Editing Tech

A doctor at the Children’s Hospital of Pennsylvania teamed up with a gene-editing researcher at the University of Pennsylvania to develop a personalized CRISPR therapy to save the life of a baby named KJ Muldoon with a rare genetic disorder.

Why It Hits: The success of the personalized therapy was the first time such a feat has been accomplished in human history. By paving the way for drugs to be developed for an individual (an undertaking that typically wouldn’t make financial sense for pharmaceutical companies), KJ’s case opens the door for 30 million Americans with one of 7,000 rare genetic disorders to get a chance at healing.

Behind the Treatment: KJ was born with CPS1 deficiency — a disease caused by an inability to rid the body of ammonia, affecting only one in 1.3 million babies — which gave him a 50% chance of dying within a week or living life with severe developmental delays and other issues.

That could now be a thing of the past.

• KJ’s doctor, Dr. Rebecca Ahrens-Nicklas, reached out to Penn researcher Dr. Kiran Musunuru about helping with KJ’s condition… and he immediately sprang into action, recruiting dozens of scientists and researchers across the country.
• Together, they created a bespoke treatment that pinpoints and edits the one rogue mutation in KJ’s DNA (one in three billion). It was given priority approval by the FDA.
• The treatment is infused into his bloodstream, traveling to his liver, where CRISPR tech (a “molecular GPS”, per NYT) locates the specific DNA letter that needs correcting.
• After receiving three rounds of therapy (which have been reduced in dose), KJ is now 9-months-old, has hit all of his developmental milestones, and is healthy enough to go home soon.

The Future: The technological miracle of KJ’s treatment was made possible through years of federally funded biotech and medical research. KJ’s case represents a breakthrough in the use of CRISPR technology to tackle one-off genetic deficiencies or common genetic disorders (a medicine has already been created for sickle cell disease). All that needs to be changed are the actual CRISPR directions to find and edit a person’s DNA.

Prediction: Expect pharma giants and startups alike to jump at the chance to develop CRISPR treatments… and people to make sure they’re covered under their next insurance plan.