When Melissa Uveges joined the Connell School of Nursing at Boston College as an assistant professor, she brought her passion for pediatrics and genetics.
That passion has now earned her the largest American Heart Association (AHA) research grant for $396,500—the largest the organization has ever awarded at Boston College.
“It was such a good surprise,” Uveges said. “We just feel really grateful to have the opportunity to do this research and to have it funded by the AHA, which is such a proponent of people having longer, healthier lives.”
The grant supports Uveges’s research into pediatric screening for Familial Hypercholesterolemia (FH), a genetic condition that can cause dangerously high cholesterol levels.
While the AHA recommends universal FH screening for children, the United States Preventive Services Task Force cites a lack of evidence to make such a recommendation.
Uveges hopes her study will fix this discrepancy. Her work would inform screening guidelines as well as change how heart disease prevention for children is approached in U.S. healthcare.
For most children, a cholesterol test is rarely part of a routine checkup. Yet, for the one in 250 individuals born with Familial Hypercholesterolemia, missing the test can increase risk of heart disease.
FH can lead to premature heart attacks, strokes, and even early death if left undetected. Uveges’s goal is profound: catch the risk early so every child can look forward to a healthy future.
“What’s interesting about FH is that no amount of exercise or eating right is going to make it better,” Uveges said. “You usually have to take some kind of medication to get your cholesterol to come down. If we could identify who has it when they’re young, we can treat it so that later on they don’t have those early cardiovascular events.”
Uveges’ study primarily focuses on developing strategies for families, and providers to improve FH screening among children. Her research includes surveys of healthcare professionals and organizations, as well as interviews with families.
Sarah de Ferranti, associate professor of pediatrics at Harvard University and chief of the division of ambulatory cardiology at Boston Children’s Hospital, serves as a co-investigator on the project.
“I’ve spent most of my career thinking about Familial Hypercholesterolemia,” de Ferranti said. “What drew me to this project was the chance to explore how family dynamics are influenced—how parents and children are both affected.”
De Ferranti highlighted Uveges’ effort to collaborate with all the members of the project, even in the face of extremely detailed and taxing research.
“She’s a really fun person to work with,” de Ferranti said. “Research can be tough— it can be difficult to get the funding you want or to find the answers that you want. Enjoying the people that you’re working with as a team is really important.
Each member of the research team is focused on a different part of the project. For example, Whitney Irie, assistant professor at BC’s School of Social Work, helps the team apply its findings into real-world practice.
“My role is to support the implementation side of this study,” Irie said. “We’re asking why this screening protocol isn’t happening in many care settings and what barriers providers face. Once Dr. Uveges identifies those barriers, my job is to help figure out what strategies can make implementation more effective.”
Irie reemphasized de Ferranti’s comments on the Uveges’ positive collaboration, as well as how she uses her expertise to lead with skill and purpose.
“Dr. Uveges allows the space to to be one of true inquiry and in collaboration, by holding an energy of curiosity,” Irie said. “She holds that energy very well, and I think that’s such a strength, and it makes it very easy and enjoyable to work with her. I think that she’s a great leader, and she has intentionally and thoughtfully built a great team.”
Uveges’ interest in FH did not come out of thin air, though. Her focus on pediatric genetics originates from her time working as a nurse in the neonatal intensive care unit (NICU).
“I took care of a lot of babies who had birth defects or other genetic conditions,” Uveges said. “A lot of the babies in the NICU that I took care of were getting genetic testing to try to determine whether their illness had a genetic component, and maybe what that genetic alteration or variation was.”
Around the same time she was working in the neonatal unit, the completion of The Human Genome Project piqued her interest in the ethical and social implications of genetic research.
“It was one of the first times we really understood what the human genome looked like,” Uveges said. “But I was also really interested in the ethical and social issues that come up when you do genetic testing in children—both for families and for providers.”
Uveges began working at the Connell School of Nursing in 2020. She noted that she was drawn to the University’s Jesuit mission, as well as the Connell School’s emphasis on education and service.
“The mission of Boston College, the focus on justice, the high priority that Boston College places on teaching the next generation of nurses was really important to me,” Uveges said. “As somebody who had studied pediatrics, ethics and genetics, the mission of Boston College was really closely aligned with my personal goal to really use my research and my teaching to promote child health.”
Currently, she serves on Boston Children’s Hospital’s Ethics Advisory Committee and is an active member of the American Heart Association, the International Society of Nurses in Genetics, the American Society for Bioethics and Humanities, and the International Family Nursing Association.
Uveges’ mentorship and leadership in national and international organizations allows her to continue making a lasting impact on the fields of nursing and genetic research.
Looking ahead, Uveges and her team are preparing surveys which are designed to capture insights from families and providers about FH screening practices.
“The data you receive back is only as good as the survey you send out,” Irie said. “As a team, we’re being thoughtful about what’s important, what’s redundant, and what’s really going to shape the next steps.”
As her research progresses, Uveges hopes her work will bring awareness to FH and inspire screening practices that can save lives, one child at a time.
“I’m motivated for not just children here in the Boston area, where healthcare is so plentiful and specialized and really strong, but for children everywhere to have access to health care that would be able to diagnose FH and be able to start them on treatment and prevent cardiovascular issues in the future, to help them live healthier lives,” Uveges said.
