Kimberly Doheny

Kimberly Doheny, Ph.D.

Kimberly Doheny, assistant director of the Institute of Genetic Medicine Center for Inherited Disease Research (CIDR) and the director of the CIDR Genotyping Lab and JHU SNP Center, on getting a handle on basic biology and just scratching the surface:

What do you tell people you do?

DOHENY:  In short, I say I’m a human geneticist. And people usually say, “that’s cool” and then turn the other way. In the event they want more detail, I tell them basically that I’m the head of a research lab that generates large data sets from researchers around the world looking for genes that contribute to common diseases.

You’ve been with CIDR since the beginning. In fact, CIDR prides itself on employee retention, right?

DOHENY: I was the second employee, hired as director of technology development. I feel like it’s my baby, my center. CIDR started with me, Dave Valle, Alan Scott and our administrator, Kim Kutchins, and then we went out and hired the people we needed—employees who have grown with us and now are in leadership positions. It’s a very collaborative, team-oriented work environment. We felt our way along through the years and decided as a group where we wanted to go and how we wanted to grow. People here feel real ownership of the center and the work we do, even though we aren’t the principal investigators on the studies.

How do you—and your colleagues at CIDR—become so vested in research on which you aren’t the PI?

DOHENY:  CIDR is a hybrid between a clinical lab and a research lab. We feel responsible for this data that we’re generating because it’s the basis for many experiments—even ones that won’t happen until many years later. These are the discovery data sets for people who’ve been collecting samples for a long time; it’s hypothesis-free, bias-free, based on looking at the whole genome and finding out what genes might be related to particular phenotypes. We feel like we are contributing to the future of medical genetics and public health. We feel like we are having an impact.

When did you first become interested in genetics?

DOHENY:  In my sophomore year of college, I took an intro class in human genetics that completely grabbed my attention. I loved chromosomes—loved looking at them under the microcscope. One of the grunt-work tasks I was assigned was to take photos of chromosomes and cut them out and line them up to compare the banding patterns. I thought they were the coolest things!

So you came to grad school at Hopkins?

DOHENY: At the time, there were few specialized programs offering a focus in human genetics.  I was impressed and inspired by the enthusiasm of the faculty at Hopkins, even though it was scary for me coming from a small town in the Midwest to Homewood where I had bars on the windows of my first-floor housing. There were five people in my entry-year class; we became a nice little community of our own.

You started out studying yeast genetics and ended up with a Ph.D., as well as certifications by the American Board of Medical Genetics in clinical cytogenetics and clinical molecular genetics.  It sounds like you’ve got one foot in basic science and one in clinical medicine?

DOHENY: I’ve always been driven by the basic biology. The fact that I identified the first kinetochore protein in brewer’s yeast wasn’t immediately going to have an impact on human health, but it was going to help us understand the basic mechanics of chromosome segregation, and when chromosome segregation gets messed up, that’s how you get cancer. Here at CIDR, we’re doing all this huge science to get a handle on the basic biology in hopes of finding a set of variants that will be more predictive than family history. As of now, it’s much more predictive to know that your dad had heart disease and your mom was a diabetic than any variants we’ve found. But we’re just starting to scratch the surface.

Related story:

The Genome Explosion