Mary Lauren Benton, Ph.D., Gives Insight to her Newly Published Article on the Influence of Evolutionary History on Human Health and Disease

February 3, 2021
WACO, Texas (February 3, 2021) – Tools of innovation, science and technology look to the future. To fully understand problems of now and in the future, however, history cannot be ignored. Mary Lauren Benton, Ph.D., assistant professor of bioinformatics, brings those worlds together in her research to solve the biggest mystery of all – the human genome.

“I’m really interested in understanding how genetic variants, differences between people’s DNA sequences, can influence their risk for different diseases,” Benton said. “We know that within our DNA sequences, we have different genes that code for proteins that perform essential functions in our cells. Gene regulatory elements are the pieces controlling when these genes are turned on and off. Figuring out what switches are encoded in our DNA, turning genes on and off at the right times and in response to the right environments, that’s the process that I’m really interested in studying in my research.”

In her recently published article, “The Influence of Evolutionary History on Human Health and Disease,” in the Nature Reviews Genetics Journal, Benton lays a foundation for her thought process and method.

Benton tells us more about the article and her ‘why’ behind it.

Q: Why did you want to write this article?
The take-away I wanted to give people as they read this article is that it’s not enough to understand what’s happening in a person right now or in the last five years, but understanding the million-year history of how people got here is equally important to make these new advances in personalizing medicine, especially genomic medicine. Having that long lens is something that I think is often lost in the day-to-day operations of a doctor’s office. The people thinking about how to revolutionize medicine need to think about these really long-term scales.

Q: How do computer science and biology work together to help solve these problems?
I think that genetics and computer science go really well together because genomics gives us a huge amount of information. Any single person’s genome is about 3 million base pairs. Now we have DNA sequences, from 100s of thousands of individuals from around the world, as well as information like their health records and experimental data from laboratories. Our ability to combine all that information and make sense of it by finding patterns or testing hypotheses relies on computers. We need the tools from computer science to store, manage and use that information. Computer science gives me a foundation to understand how to use biological information to ask the bigger questions that I’m interested in.

Q: What do you do with those patterns you find in the data?
I look for patterns to build a model that makes predictions. For example, if researchers give a certain input, I predict a certain output. These models can be tested by sending them to other researchers who run experiments. Those labs can test it by giving my model that same input in the lab and measuring what comes out, and report if they agree.

Q: With this kind of data, can we design personalized medicine or predict diseases in the future?
Definitely. If we can better understand our genomes, then we can better understand risk for disease broadly, but also for specific people. Understanding how genetic variants relate to disease can help us tailor treatments, preventative measures or drugs. Evolution plays into what variants we have, which variants have stuck around, which people they are present in and why. I think evolution gives us context for what we want to use in the clinic moving forward.

Benton teaches Genomics, Bioinformatics and Computational Biology in the Department of Computer Science. Read more about her research in the full article.

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