This May Be the Most Important Medical Story of the Decade |
This May Be the Most Important Medical Story of the Decade
Dr. Coller directs the RNA Innovation Center at Johns Hopkins University.
When KJ Muldoon was born in the summer of 2024, his parents were told he had a disease so rare, it strikes about one in 1.3 million newborns. His condition, a severe deficiency of an enzyme known as CPS1, left his tiny body unable to properly break down protein, flooding his blood with toxins that could cause brain damage or death. A liver transplant could correct the problem, but KJ was too young and too fragile to undergo one. With each passing day, the risk of irreversible neurological damage grew.
What happened next may become the most important medical story of the decade. In just six months, a team at Children’s Hospital of Philadelphia and Penn Medicine designed a personalized therapy that could correct the single misspelled letter in KJ’s DNA using a gene editing technology known as CRISPR. To get the therapy inside KJ’s cells, doctors relied on the same kind of mRNA technology that powered the Covid-19 vaccines. He received his first dose at 6 months old. One year later, KJ is walking, talking and thriving at home with his family.
We call them rare diseases, but there is nothing rare about the suffering they cause. Some 25 million Americans, nearly one in 13, live with rare genetic diseases. More than half are children, many of whom will not live to see their fifth birthdays. Families spend years searching for accurate diagnoses, cycling through misdiagnoses and facing financial ruin and isolation. And even though the direct medical costs of rare diseases are estimated at $400 billion a year, rivaling those for cancer and Alzheimer’s disease, fewer than five percent of them have Food and Drug Administration-approved treatments.
Why so few? Because the economics of drug development work against small patient populations. When a disease affects only a few hundred or a few thousand people, it’s hard to put together a clinical trial, and there is usually insufficient return on investment. Rare disease, in aggregate, is one of the largest unmet medical needs on earth.
What makes this moment different is that the technology to do something about it finally exists. Recent advances in mRNA science and CRISPR gene editing mean that the approach that helped KJ could be used for other children. The technology can be reprogrammed for different diseases by inputting a short stretch of genetic code that tells the molecular machinery exactly where to make its correction. Build the system once, and you can redirect it to a new disease by changing that one piece.
KJ’s doctors went to extraordinary, even heroic lengths to save him. They assembled a team across multiple institutions, compressed years of treatment development into months and secured authorization to administer the experimental therapy to KJ one week after the application was submitted to the F.D.A. But no health care system can rely on heroics for every patient. Even though the technology exists, there is no established pathway to do for the next child what was done for KJ, let alone for the thousands of other children who could benefit from this approach.
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