Broadly speaking, my research is focused on the genetics of birth defects. More specifically, I’m studying developmental defects in the head, or growth insufficiency that is hormonally based, e.g., pituitary gland issues.
It’s particularly interesting now because the approach to our research is changing significantly. When I first joined U-M some 25 years ago, we worked with mouse models of pituitary gland insufficiency to hunt down the genes that caused the condition. That approach – starting with mouse models and then moving toward the impact of birth defects in humans – has been turned on its head. Today, we can start with a person’s individual genome. It’s exciting to start with the patient but it’s challenging to identify causal impacts. So we use mice now to model what we find in patients.
With hormonally based growth insufficiency, clinicians can generally manage a patient’s condition with hormone replacement. So we’re not looking for a cure so much as seeking to identify the cause. This will enable us to predict the progression of disease, predict risk for future pregnancies, and provide parents with explanations for a child’s condition. The value of this research is primarily diagnostic.
I’m inspired by my students. I work with young people who are just establishing themselves in their careers. When they start pursuing their PhDs, they are learning how to take charge of and complete a research project. Over time, you see students build their confidence as they achieve small wins and realize they can tackle new and different research questions. It’s really fun and rewarding to see how the students develop.
I like to cook and work in my garden (which is unfortunately full of weeds right now!). I also play the flute in the Ann Arbor Concert Band. And I enjoy reading and running.
My postdoc mentor, Shirley Tilghman (now president of Princeton University), was instrumental in my early career development. There was only one female faculty member in the department at that time. When I joined Shirley’s lab as a postdoc, I learned a lot from observing how she handled herself, her students, her family life. I believe it’s easier to visualize and achieve your own success when you can see how someone you can identify with has done it. Things are different now. In the UMMS Human Genetics Department, more than one-half our grad students are women and 30 percent of faculty members are female.
I love to scuba dive and have been diving in the Great Barrier Reef (Australia), Belize, Indonesia and the Philippines. I would like to dive in the Maldives in the Indian Ocean. Being under water is so quiet and peaceful and the visual stimulation is incredible.
When I was a new assistant professor at U-M, I met a colleague at a retreat who I started running with a few days each week. Many years later, we are still running together, through the U-M Nichols Arboretum, a favorite Ann Arbor location. It’s a pleasure to see the peonies bloom in spring, the fall colors, and more throughout the seasons.