Creighton researcher secures nationwide newborn screening for Duchenne Muscular Dystrophy
A Creighton University researcher has helped change the future of newborn care nationwide. Through decades of research leadership, collaboration and advocacy, Amy Brower, PhD, research professor and senior scholar in Creighton’s Institute for Population Health and assistant dean of research for the School of Medicine, contributed critical evidence that led the U.S. Department of Health and Human Services to add Duchenne Muscular Dystrophy (DMD) to the federal Recommended Uniform Screening Panel (RUSP), paving the way for universal newborn screening of the rare, life-limiting genetic condition.
Announced Dec. 16, 2025, the decision marks a milestone in population health and reflects Creighton’s commitment to translating research into meaningful, real-world impact. For families affected by Duchenne, earlier diagnosis means earlier access to care, more informed decision-making and improved quality of life during a critical window of development.
“This is a transformative moment for the Duchenne community and for newborn screening as a whole,” Brower says. “Early identification through newborn screening means children with DMD can access life-changing therapies at the most effective time, before significant muscle damage occurs.”
Research that moved national policy
Duchenne Muscular Dystrophy is an X-linked genetic disorder that affects approximately one in every 5,000 newborn males. Historically, the condition has often gone undiagnosed until age 4 or 5after irreversible muscle degeneration, cardiomyopathy and other serious complications have already begun.
That diagnostic delay was a central challenge Brower and her collaborators sought to change. Brower helped lead a national consortium whose work generated the evidence needed for federal review, including a landmark two-year pilot study conducted in New York State. The study, published in Annals of Clinical and Translational Neurology in 2023, screened 36,781 newborns using a two-tier approach that measured creatine kinase-MM (CK-MM) levels from dried blood spots, followed by confirmatory genetic testing.
The results demonstrated that Duchenne Muscular Dystrophy newborn screening is both feasible and effective within existing state screening programs. Four male infants with dystrophinopathy were identified early, allowing families to connect with care and specialists long before symptoms would typically appear.
Those findings became a cornerstone of the evidence reviewed by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, ultimately informing the recommendation adopted by HHS Secretary Robert F. Kennedy, Jr.
“Adding Duchenne to the RUSP greatly accelerates the timeframe in which newborns across the country will be screened, allowing families to connect with care and neuromuscular experts sooner and access approved therapies and supportive interventions earlier,” says Pat Furlong, founder of Parent Project Muscular Dystrophy and a partner in the pilot study.
A nationally trusted leader in newborn screening
Brower’s impact on newborn screening extends well beyond Duchenne Muscular Dystrophy. From 2008 to 2024, she served as principal investigator of the Newborn Screening Translational Research Network within the Eunice Kennedy Shriver National Institute of Child Health and Human Development, securing three consecutive five-year federal contracts totaling $40.5 million.
Under her leadership, the network modernized nationwide genomic and clinical data collection and sharing, including development of the Longitudinal Pediatric Data Resource, the nation’s largest secure repository of long-term data for children identified through newborn screening.
Brower also helped shape the national newborn screening framework as an inaugural member of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, later chairing its Laboratory and Follow-Up and Treatment subcommittees.
Personal experience, professional purpose
Brower’s work is informed not only by scientific expertise but also by personal experience. She is the mother of an adult son with Severe Combined Immunodeficiency, the first condition added to nationwide newborn screening using the coordinated evidence-review process she helped establish.
That intersection of science, compassion and advocacy reflects Creighton University’s Jesuit, Catholic mission and commitment to cura personalis, care for the whole person.
“Newborn screening isn’t just a medical advancement—it’s a moral imperative,” HHS Secretary Kennedy said during the December announcement. “Timely care is compassionate care, and our children deserve nothing less.”
Advancing Creighton’s population health mission
Brower joined Creighton University in 2025 as a research professor and senior scholar in the Institute for Population Health and assistant dean of research for the School of Medicine. She also serves on the Nebraska Newborn Screening Advisory Committee, helping guide state-level policy and implementation.
“Dr. Brower brings unparalleled expertise in translational research and a proven track record of transforming scientific discoveries into public health impact,” said Bo Dunlay, MD, dean of the Creighton University School of Medicine. “Her work exemplifies Creighton’s mission to advance health equity and improve access to high-value care for all patients, particularly those with rare and complex conditions.”
Looking ahead
With Duchenne Muscular Dystrophy now added to the federal newborn screening panel, Brower continues to support state implementation efforts while advancing research on expanded screening and long-term follow-up models. Her current work explores extending data resources into the prenatal period and strengthening systems that support children and families across the lifespan.
For Creighton University, the milestone underscores what is possible when rigorous science, compassionate leadership and a mission-centered approach converge. It is research that shapes national policy and changes lives from the very beginning.
Learn more about how Creighton University research is advancing population health and transforming lives through early detection and translational science. Explore the Institute for Population Health and its impact.
