Where and when were you born?
Greensburg, Pennsylvania, 10 February 1971. It’s a small town about an hour from Pittsburgh.
How has this shaped you?
I like to think that my small-town sensibility has given me a can-do attitude. I don’t mind getting my hands dirty and I like being part of a team. I don’t need to be “the one” in the limelight all the time.
How did you react to the news that you were one of the most influential scientific minds in 2014?
I was surprised! But understanding how the ranking is determined makes sense. As the leading US-based genome centre, my team is involved in many high-profile collaborative projects. We generate large datasets so we get included on many publications.
How does it feel to be the scientist with the most “hot papers”, which means that your research and experiments are “groundbreaking and influential” and have had a “notable impact” on your fellow scientists?
I feel very proud of the work we do and it’s very exciting to see large-scale DNA sequencing making a real difference to understanding the molecular basis of disease.
What can be done about the under-representation of women both in science and in senior academic and higher education management positions in general?
Two things come to mind – earlier emphasis and encouragement for elementary and middle school-aged girls to feel empowered and that it’s OK to be good in math and science…it’s not just a thing for boys. Later in life it has a lot to do with support for working parents and building in flexibility so that women don’t feel forced to choose between being a mum and being a leader in their career.
Do you think/hope achievements such as yours (and the others in the list) can inspire the next generation of leading female scientists and academics more broadly?
Absolutely! It’s one of the coolest things about such recognition.
What advice would you give to your younger self?
Be more confident and don’t be afraid to voice your opinion.
What kind of undergraduate were you?
I was more timid than I should have been. Coming from a small town and a very small, rural high school, I think I held back a lot.
What’s your most memorable moment at university?
On the academic side, it had to be meeting Dr Aravinda Chakravarti who would become my PhD adviser. He hired me to be a phlebotomist – at the time I was a working part-time as a phlebotomist, a job I took on to prepare myself for medical school, during my junior year of college. As part of his research he needed a phlebotomist to take blood samples from the Amish who have a high incidence of the disease that is the subject of his research, Hirschsprung’s disease. I met the families, took their blood and became involved in isolating DNA and eventually the genetic mapping studies that led to the identification of a new gene for the disease and a specific mutation that the families carry. It was fascinating, and thwarted my interests in medical school, leading me to do a PhD in genetics in his lab.
What are the best and worst things about your job?
The best things are experiencing first-hand the pace of technology change and being able to do things I never imagined possible – such as sequencing the human genome in a day! [Also] the people I get to work with. The worst thing is hearing about or seeing desperately sick people that we cannot help yet. There’s still a lot of research to do and discoveries to be made before we can routinely perform tests that give people answers or cures.
What do you do for fun?
Spend time with my family. I have an 11-year-old daughter who keeps me very busy! Right now I am wedding planning, too, which is fun. I am getting married in October to a wonderful man.
What’s your biggest regret?
Not inviting my parents to the public defence of my PhD dissertation. I was so incredibly nervous that I felt they would be too worried for me and make me even more nervous! Now being a parent, I understand that’s just part of the job!
What’s an undergraduate degree worth?
A tremendous amount – for me it was the exposure to a range of disciplines and areas of studies that ultimately changed my mind from what I originally thought I would do. And that was the best thing that could have happened for me.