Elaine Fuchs pioneered the field of reverse genetics—studying proteins and learning what they do, and how they do it, in order to identify the genetic disease they cause when they malfunction.
Narrator: How do you go forward in reverse? Ask Elaine Fuchs. She created a field called reverse genetics that revolutionized the study of genetic disease.
Elaine Fuchs: At the time, researchers would identify a large family that had a inheritable trait that was passaged on to their offspring.
Narrator: Geneticists would study the DNA of unhealthy family members, compare that to the DNA of healthy family members, and try to find differences that may or may not have been the source of the disease.
Elaine Fuchs: So, they would use that information to then do what I consider quite boring science at the time. And that was to slog through megabases of DNA and try to find a needle in the haystack.
I thought, ‘Wouldn't it be nice if you could just start with the protein?’
Narrator: Proteins are critical molecules in our cells. And each protein has a different job, like cellular structural support and defense against germs.
Fuchs began to disrupt the proteins in skin cells and then implant those mutated proteins in mice to see what skin abnormalities might development.
Elaine Fuchs: That's what we call reverse genetics, starting with the protein and working your way up to a genetic disease rather than starting with the disease and working your way down to the protein.
We engineered a mouse to express our mutant protein and let the mouse pathology guide us to what disease the human must have.
So, when I first presented this work at a scientific meeting, the chairman took the microphone and said, "I don't know what disease you've got, but it's certainly not the one that you think it is. And this to me just seems like really ridiculous science. I think we should move on."
And the audience was silent. Nobody spoke up. One woman finally stood up in the audience and said, "I think you should give this woman a chance."
And it was six months later that we proved we had been right in our diagnosis.
Narrator: Fuchs not only solved what caused the skin disease, she forever changed genetic science, an impressive achievement for a small-town girl.
Elaine Fuchs: I was born in Downers Grove, Illinois, just southwest of Chicago. My aunt and my fathe
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