Elinor Karlsson draws disease insights from dog descent

In a #WhyIScience Q&A, Broad's director of vertebrate genomics talks about her career and explains how studying man's best friend could help inform our understanding of human health and disease.

Photo by Juliana Sohn
Credit: Photo by Juliana Sohn

As the director of the Vertebrate Genomics Group at the Broad, Elinor Karlsson searches for evolutionary clues—particularly those hidden in the genomes of mammals—to help understand, and ultimately fight, human disease. In her role at the Broad, and as an assistant professor in Bioinformatics and Integrative Biology at the University of Massachusetts Medical School, Karlsson oversees comparative genomics projects on mammalian genomes, as well as studies on the evolution of infectious disease resistance in humans, and the evolution of dog behavior and disease.

She’s a proponent of science communication and outreach, and has become a popular source for journalists, recently appearing in such outlets as the New York Times, Washington Post,  Nature News, and CBS. She has also found her communication skills essential to her research, some of which relies on citizen-science-style participation on behalf of pet owners to get the sample-sizes needed for informative, genomic research.

Karlsson spoke with us about her work, her upbringing, and her love of science for the first of this month’s #WhyIScience Q&As.

Q: How would you describe your research?
A: I use evolution as a tool for understanding how DNA works. When environments change, animals need to adapt to survive, and this happens through changes in their DNA—sometimes in really creative ways! Finding the changes in their DNA, and figuring out how those changes work, can help us discover totally new ways to help people.

Q: What, would you say, has been your biggest scientific accomplishment to date?
Well, this isn’t really mine, but I think it is probably our Darwin’s Dogs citizen science project. I still can’t quite believe that thousands of people have volunteered to help us with our research. Science is such a big part of my world, and I’m excited other people want join in the fun.

Dogs are a species that have evolved dramatically in the last 20,000 years, since they adapted to live with humans. We’re trying to figure out how dogs and wolves are different, and also what genetic changes shape each dog’s behavior and personality. To do this, we need people to tell us all about their dogs. Luckily, that is a topic they love talking about! They’ve answered over 1.5 million questions for us so far.

Q: What got you interested in science, and in your field of study particularly?
Both my parents immigrated to this country to pursue PhDs, and I think they always encouraged me to ask questions. My mother, Kathryn Karlsson (who actually did her PhD on “play”) was way ahead of her time in believing that her children should discover and learn through play, and not just memorize facts out of books. Maybe because of that, I always liked figuring out how things worked—the why, rather than the what. (Plus, I’m really bad memorizing facts, so I’m sure that played a role: I only remember things once I know the why.)

I think if I had to specify a particular moment, though, it would probably be my ninth grade science class, when we learned about Gregor Mendel and his pea plants and genes and alleles. I was captivated by the idea that we could combine biology and math to predict what an organism would look like. Of course, I then went to college and did degrees in both biochemistry and fine arts, and it took me about 10 years to get back doing research that was, basically, biology and math. This time, though, I was doing it as part of the human genome sequencing project, and we were using very big computers to try and puzzle out what our genome looked like.

Q: In addition to your parents, were there others who inspired or pushed you along the way?
I had lots of mentors—I don’t think I would ever have gotten where I am without their help! Kim Worley, at the Baylor College of Medicine, took a big risk and hired me as a programmer for the Human Genome Project when I was a senior at Rice University—despite my having had only one programming class and a summer internship. Kerstin Lindblad-Toh gave me my first job at the Broad, and then mentored me through my whole PhD. She got me started on dog genetics and gave me an opportunity to work independently on really exciting new problems, as well as the space and guidance to figure things out for myself.

Elinor Karlsson in Bangladesh
Elinor Karlsson in Bangladesh as a postdoc in the Sabeti Lab.

Actually, I had a pretty incredible team helping me get my PhD: Jill Mesirov also mentored me, and together Kerstin and Jill  inspired me to persevere even when our research felt like it was going nowhere. Our study on bone cancer in dogs, which eventually turned into a really elegant paper, took years! We were developing new technology for doing genomics in dogs, new analysis methods, and just trying new approaches every time we got stuck—which was often! And then Pardis Sabeti was my advisor for my postdoc. I joined her lab just as she was getting it started, and I learned SO much about how to run a research lab, which is about far more than just science. Her guidance helped me build my own research lab when the time came, filled with brilliant, and hopefully happy, scientists.

Q: What advice do you have for people entering scientific fields today?
A: Make sure you stand up for yourself, and your own interests. You may not be as knowledgeable as people with more experience, but you may be just as smart. Experience can be valuable, but some of the best ideas come from outsiders who aren’t restricted in their thinking by too many preconceptions. Also, make sure you’re having fun, at least most of the time! Being a scientist means that you get to play, to think of new ideas, and make new discoveries!