Decoding a genetic mystery

Stephen Warren Alumnus, 1976, 1981 Atlanta, Georgia

As a human geneticist who researches diseases, Stephen Warren is part detective, part explorer--searching for subtle clues in DNA and charting new medical territory.
“You don’t discover things every day,” says Warren, chairperson of the Department of Human Genetics at Emory University. “But when you do, it’s really fun.”

In 1991, Warren was instrumental in identifying the gene responsible for fragile X syndrome--a form of autism that causes developmental delays and cognitive impairments. That milestone was the tip of a complex iceberg that he’s been chipping away at ever since.

Nearly two decades later, Warren and fellow Emory researchers continue working to enhance their understanding of the syndrome, with the goal of developing a therapeutic treatment that could open a new world for those with autism.


Stephen Warren
BS, zoology,1976; PhD, human genetics, 1981
Chairperson, Department of Human Genetics, Emory University
Atlanta, Georgia

I do medical research. I'm a human geneticist. We are interested in variation in the genome that can influence health and disease. Specifically, what we have worked on for many years is a form of autism called fragile X syndrome, where we identified the gene responsible for that disorder back in 1991 and we have been working on that since then.

These are children and adults with learning disability, developmental delay, and, in the past, they might have been called mentally retarded. The disorder went kind of unrecognized for many years because these children don't look very different than normal kids.

Parents notice first; they have concerns about delay in speaking language. So usually around age 3 is when they first start seeking help or telling their pediatrician that something may be wrong. So back in 1991, we discovered the gene responsible for fragile X syndrome.

In the last almost 20 years now, we have understood quite a bit about this syndrome, way down to what is going on in the nerve cells. And that has led to some approaches or therapeutic drugs that may be beneficial. If one is looking to intervene in a genetic disease, something drug based is the most logical approach.

I get a lot of calls from physicians all around the world when they have an unusual case. They don't quite know from reading the literature what to make of it, what to tell the parents. So they call me to get my opinion.

Families a lot of times want to know just what is new, what looks like promising research on the horizon. And I think it just gives them hope that there are people working on the disorder that may eventually lead to some therapeutic benefit. So the work goes on.

There is a lot we still don't fully understand. But we are now more directed at translational research, where we are trying to take what we have learned in the last two decades and really think deeply about how can we come up with small molecules that might form a drug that might be useful.

I think that if you have a successful career in science, it is very satisfying because you learn something that no one knew before. And from that point on, people know about it. That is kind of the basis of discovery. You don't discover things every day, that is for sure. But when you do, it is a lot of fun.


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