Cristián Borgoño

A biologist in Ohio is living with a rare form of cystic fibrosis. His particular mutation is not amenable to existing drugs for the disease. And that’s why, for the last 10+ years, he has been trying to make a gene therapy to cure it. New essay today in @AsimovPress. Most people living with cystic fibrosis still make copies of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These proteins are often defective, but modern drugs can help them fold or function properly. And these drugs have been enormously successful. For decades, treatments like antibiotics and mechanical vibration vests have helped clear bacteria from the airways and raise life expectancy for people with cystic fibrosis from about 10 years to 40. Newer drugs that restore CFTR function have pushed life expectancy even higher; many patients today can live relatively normal lives. But about 5–10% of people with cystic fibrosis have mutations that prevent them from making essentially any CFTR protein at all. These are often called nonsense or frameshift mutations. And because these patients don't make the protein, the existing CFTR-modulating drugs have nothing to act upon. @jacobwitten1, the author of today's essay, is one of these patients. His laboratory at Case Western Reserve University is developing lipid nanoparticles that can deliver RNA into lung cells, with the ultimate goal of restoring CFTR function. These particles could carry RNA strands encoding the missing protein, or gene-editing tools that fix the mutation directly. This is a deeply personal essay about the last 30 years of cystic fibrosis research, the extraordinary difficulty of delivering gene therapies into the lungs, and what it’s like to try to cure your own disease. We’re extremely honored that Jacob decided to write this! The piece is charming and irreverent and, I think, a reflection of his personality. press.asimov.com/articles/cy…