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Stressing the Importance of Genetic and Anthropological Research in Health with Dr. Mulligan

By Patrick Sherry

Connie J. Mulligan, Ph.D., Professor in the Department of Anthropology, bridges the gap between anthropological scientific inquiry and human genetics to understand the interplay between genetic and cultural influences on health. In doing so, she uses an interdisciplinary approach to create a more comprehensive understanding of the multiple factors that influence health and disease.

Her research specifically addresses how human evolution, population history, and migration are significant factors in different health issues, but also how cultural factors influence health as well.

“What anthropology brings into questions of health is the fact that we have a much broader perspective,” said Mulligan. “Anthropology by virtue of having this very broad, interdisciplinary view means I can consider more factors that impact health than I would otherwise, such as genetic variation and ancestry as well as psychosocial stress and trauma.”

Photo courtesy of Dr. Connie Mulligan. Pictured is Dr. Mulligan collecting saliva and dried blood samples in Yemen to reconstruct the migration path of the first anatomically modern humans out of Africa.

Her research career began with tRNA splicing at Yale, but she was most fascinated by the field of genetics and how you can trace the flow of information from one generation to the next. This led her to pursue a life-changing experience of studying human population genetics and people of the Americas during a postdoc at the Smithsonian Tropical Research Institute in Panama. This anthropology research and interactions with indigenous populations provided invaluable perspectives on the complexities of different research questions and how important anthropology is to the study of human-related topics. Following this, she worked at the National Institute of Alcohol Abuse and Alcoholism where she was able to combine her research into human evolution and population history with health and disease – ultimately leading to a position at UF’s Anthropology Department.

Furthermore, with the advancements in genetic technology, specifically sequencing the human genome, what intrigued Dr. Mulligan at the time was a problem defined as missing heritability. Statistical evidence showed that the heritability of complex traits and diseases was high yet the genetic variants being identified in GWAS only accounted for a small portion of the variation of the trait. Something was missing, and Dr. Mulligan thought that genetic and environmental factors needed to be included in the same study rather than controlling for the missing factors.

“The vast majority of the literature for complex diseases looks at the genetic factors or the environmental factors,” said Mulligan. “But it’s very unusual to have papers that include both genetic and environmental data in one study, where both datasets are equally rich, equally deep – even though complex diseases, by definition, have both genetic and environmental factors.”

Using an interdisciplinary approach, she has identified multiple examples of interactions between genetic and environmental factors that would have been missed in a study that focused on only one type of data.

“Until I started collaborating with cultural anthropologists in my department, I had spent my whole career looking at genetic data,” said Mulligan. “It was fascinating to expand my research so I could compare how specific genetic variants contribute to something like blood pressure variation, but also how cultural factors like discrimination, psychosocial stress, and socioeconomic status also contribute to a particular disease or phenotype.”

One of Mulligan’s largest areas of interest is using an interdisciplinary approach to investigate psychosocial stress and its impact on health. While stress is ubiquitous across species, there is limited understanding of why and how it impacts genetic expression and health outcomes. Her research studies the role of epigenetic and microbiome variation in mediating the impact of stress on health, possibly in an intergenerational manner.

This has led to several research projects around the world in places like the Democratic Republic of Congo and Syria, where she is researching the impact of psychosocial stress and violence trauma on the epigenome and microbiome and testing for associations with health outcomes and risk of infectious diseases such as malaria.

Photo courtesy of Dr. Connie Mulligan. Pictured is molecular genetics lab set up at HEAL Africa by Nikki D’Errico and Connie Mulligan in the Democratic Republic of Congo.

Dr. Mulligan points out that her research is largely the result of interdisciplinary collaborations. Collaboration with others allows her to develop a comprehensive research program and address bigger questions. She recently started a collaboration with colleagues in the College of Engineering to combine her expertise in genetics and ancestry with their mission to develop new biomaterials to improve health.

“I love how interdisciplinary my research is because I can’t know everything; I can’t be an expert in all of the fields related to health and disease,” said Mulligan. “I have to collaborate with people and that keeps me constantly learning new things, which I love.”

Overall, Dr. Mulligan maintains that similar to her complex research, the complexities of life and the different paths you take are the ones that help truly shape who you are and allow you to find your passion.

“Resist the pressure to have this detailed plan for what you’re going to do with your life,” said Mulligan. “Instead, be open to taking advantage of new opportunities that present themselves. If you have a good idea of the things you’re interested in and what drives you, taking new paths and constantly learning will lead to success.”