The Rarest of All Diseases Are Becoming Treatable

"For a decade after its discovery, CRISPR gene editing was stuck on the cusp of transforming medicine. Then, in 2023, scientists started using it on sickle-cell disease, and Victoria Gray, a patient who lived with constant pain-like lightning inside her body, she has said -got the first-ever FDA-approved CRISPR gene-editing treatment. Her symptoms vanished; so did virtually everyone else's in the clinical trial she was a part of."

"Most of the 8 million people globally who have sickle-cell disease share the same genetic mutation; treating rare disorders will require dealing with many different mutations, even within the same disease. And although rare diseases affect 30 million Americans in total, relatively few people are diagnosed with each one. Fyodor Urnov, the scientific director of UC Berkeley's Innovative Genomics Institute (IGI), showed me a list of rare diseases and pointed to one carried by only 50 people."

"The technology is ready to treat at least some of these diseases, though. "There's a whole toolbox now that can target arguably any part of the genome pretty precisely," Krishanu Saha, a gene-editing researcher at the University of Wisconsin at Madison, told me. If researchers could build one CRISPR platform for a single disease, or even several similar ones, and tweak that template to suit each patient, they could target extremely rare disorders more quickly and economically."

CRISPR achieved the first FDA-approved gene-editing therapy for sickle-cell disease in 2023, eliminating symptoms in trial participants including Victoria Gray. Many rare disorders require addressing many distinct mutations, and individual conditions can affect only dozens of people, creating weak financial incentives for drug developers. A flexible approach would build a CRISPR platform template for a disease and then tweak that template per patient. A template strategy could reduce development from roughly $2 million and a year for an initial treatment to about $100,000 and a month by the third patient. A precise genome-targeting toolbox now exists to enable this model.

Read at The Atlantic