Question: how close are we to finding a cure to genetic disorders?

Martin Johnsson answered on 11 Mar 2020:

I’m afraid I’m going to give the stereotypical scientist’s answer: “It really depends!”

There are some genetic disorders, like beta-thalassemia, where there have been successful gene therapy research studies, where some people have been cured. But even in the best cases, we are probably looking at many years before these studies become useful cures. 🙁

Some background: rare genetic disorders are often caused by a genetic variant that, completely or almost completely, breaks the function of one gene. There are thousands of such genetic disorders caused by broken variants of different genes. With modern genetic methods, it is much easier than before to discover what gene might cause a rare disease. Unfortunately, it is still super difficult to turn that information into a useful cure.

For decades, scientists have dreamed of being able to do so called “gene therapy” for genetic disorders. That is, you would use some genetic modification method to replace the broken gene copy. It has turned out to be difficult, because you both need a safe way to deliver the functioning gene copy to the right part of the body.