The new Director of the Institute for Biomedical Informatics wants to connect the dots from patient data to better care.
By Kirsten Weir
Marylyn Ritchie, PhD
Growing up, Marylyn Ritchie, PhD, planned to become a doctor. But as a pre-med college student, she volunteered at a hospital and discovered the sights and smells made her stomach do somersaults. Switching gears, she pursued an interdisciplinary graduate program in biomedical research at Vanderbilt University, where she fell in love with bioinformatics – a field that uses computational analysis of large patient datasets to draw new insights in medicine.
It was the turn of the 21st Century, and bioinformatics was a brand-new field. At the time, no one – even her graduate program director – was quite sure where it might lead. “But I loved the idea of using my math skills to solve problems in genetics,” says Ritchie, who went on to earn a PhD in statistical genetics. To say it all worked out would be an understatement. Over the last two decades, bioinformatics has grown by leaps and bounds.
Ritchie joined Penn Medicine in 2017 as a professor of Genetics, and in January she was named director of the Institute for Biomedical Informatics (IBI), a group that consists of more than 70 highly interdisciplinary research labs at Penn Medicine, united in an effort to fully capture the power of data to drive discoveries and improve health.
Much of her work draws on patient data (stripped of identifying characteristics) from electronic health records, as well as patient blood and DNA samples stored in the Penn Medicine BioBank. “Every time participating patients go in for routine clinical care, they’re populating this database of information about health and disease,” Ritchie says. “We can tap into those data to improve our understanding of the mechanisms behind disease and factors that increase disease risk in certain groups.”
Advances in the field are making it easier than ever to make sense of complex patterns. “Now the technology exists to look across multiple domains of molecular and cell biology at once, and the computational infrastructure is more advanced than it’s ever been,” Ritchie says. “It’s a perfect storm for asking exciting questions that weren’t possible even 10 years ago.”
In a recent study, she and her colleagues combed health records to look for a gene known to be associated with rare genetic syndromes. They found that different variations in that same gene may be linked to common diseases like diabetes and high cholesterol. Other work is looking at heart failure to determine whether there are distinct subgroups of patients who might have unique risk factors or disease trajectories, or who respond to different treatments. “Heart failure is one example, but with bioinformatics we can do this with any complex disease,” Ritchie says.
As she takes the helm at IBI, Ritchie hopes to help Penn Medicine elevate its status as a learning health system that uses data to inform clinical research and, ultimately, improvements in clinical care. To get there, she’s working to establish a broader network of informaticians across the organization. “Building networks and communities is one of the joys of my job,” she says.
That joy extends to mentoring students and junior faculty – a role that, as a first-generation college student, Ritchie takes seriously. While passionate about her research, she’s also mindful of setting a good example for her mentees. She carves out time to spend with her husband and two teenage children, and shares tips for creating work-life harmony on her podcast “CALM: Combining Academia and Life with Marylyn.”
Taking time to recharge means she brings her best self to work to advance the goals of IBI and Penn Medicine. “The mission of IBI is to use the power of data to drive discoveries and improve health at the individual, community, and population level,” she says. “We’re in this period of time where the technology exists to do transformational research in bioinformatics. And Penn has all the pieces to be one of the leading learning health systems in the country.”