Have we seen a breakthrough in preventing genetic diseases?

我们是否看到了在预防遗传病方面的突破?

The Inquiry

2025-06-10

22 分钟
PDF

单集简介 ...

The creation of a landmark gene editing drug used to treat a baby with a rare genetic mutation which could help transform personalized medicine. Blood tests showed baby KJ had sky-high levels of ammonia, a toxic substance the body usually expels. The root cause was his genes - or more particularly a specific gene mutation. The race was on to try and treat him before his condition took a firm hold. His doctors came up with a radical solution - for the first time ever, they designed and applied a gene-editing drug in record time, specifically for him. Have we seen breakthrough in preventing genetic diseases? With Fyodor Urnov, a professor in the Molecular and Cell Biology Department at the University of California, Virginijus Šikšnys professor at the Life Science Center of Vilnius University, Waseem Qasim from the UCL Institute of Child Health in Great Ormond Street Hospital in London and Jennifer Doudna, Professor, University of California, Berkeley and founder of the Innovative Genomics Institute. Presented by Tanya Beckett. Produced by Bob Howard. Researched by Mauve Schaffer Edited by Tara McDermott.
更多

单集文稿 ...

  • Welcome to The Inquiry from the BBC World Service.

  • I'm Tanya Beckett.

  • Each week, one question, four expert witnesses and an answer.

  • In August of last year,

  • a baby boy was born in a hospital in Philadelphia in the United States.

  • He looked healthy, but very quickly it became clear something was wrong.

  • He was sleeping too much and wasn't eating.

  • Blood tests showed that baby KJ had sky-high levels of ammonia in his body.

  • The root cause was his genes, or more particularly,

  • a specific gene mutation that didn't allow his liver to expel the ammonia.

  • Doctors and scientists entered a race to try to treat him before his condition led to a coma.

  • In a few short months,

  • they had designed and gained government approval for a gene editing drug tailored specifically to him.

  • Earlier this year, baby KJ received three infusions, each a month apart,

  • containing billions of microscopic gene editors that honed in on the mutation in his liver.

  • He became the first ever recipient of a gene therapy designed to treat a single person.

  • KJ will need to be monitored for the rest of his life,

  • but a few months after the treatment, his health improved beyond recognition.

  • So this week on The Inquiry, we're asking,

  • have we seen a breakthrough in treating genetic diseases?