Spinal muscular atrophy poses a significant concern for healthcare providers. This rare genetic condition primarily affects children, weakening muscles and impairing movement and other essential functions. Without early diagnosis and treatment, it is fatal in most cases. Motivated by its devastating impact on infants and their families, Serbia has made a determined effort to establish a nationwide program for newborn screening.
This inspiring story of teamwork and innovation was made possible by Serbian scientists, led by Dr. Miloš Brkušanin, alongside doctors, patient advocates, pharmaceutical companies, and policymakers. Together, they tackled the challenges of addressing SMA, ensuring every newborn in Serbia is tested for this life-altering condition. Their work is detailed in a study published in the International Journal of Neonatal Screening, a respected platform for medical research.
Using specialized techniques to analyze DNA, Serbia’s program identifies affected babies shortly after birth. Early diagnosis enables timely treatment, vastly improving outcomes and giving children the best chance for healthy development. “Our mission is simple but powerful: detect spinal muscular atrophy as early as possible to enable successful treatment,” said Dr. Brkušanin.
The research emphasizes how government support and partnerships ensured that testing is accessible to all newborns, regardless of location or financial circumstances. “Our top priority was ensuring that every child could get early testing and treatment,” Dr. Brkušanin added. Detailed planning, expert knowledge, and collaboration among scientists, doctors, pharmaceutical companies, and patient organizations transformed Serbia’s program into a model for other countries. Several babies diagnosed through the system have already received life-changing treatments, showing promising progress.
“This achievement marks the dawn of a new era in neonatal screening, leveraging genetic methods to bring hope to families affected by SMA and other treatable rare diseases,” said Dr. Savic-Pavicevic. Experts highlight the importance of global collaboration and shared resources to address health challenges together. Serbia’s success demonstrates how science, combined with a commitment to public health, can create extraordinary change.
By establishing this program, Serbia has not only given affected families a lifeline but also provided a powerful example of what can be achieved through pragmatic ideas, determination and cooperation.
Journal Reference
Brkušanin M, Garai N, Karanović J, et al. “Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.” Int J Neonatal Screen. 2024;10(3):57. DOI: https://doi.org/10.3390/ijns10030057
About the Authors
Milos Brkusanin is a dedicated researcher in the field of human molecular genetics, with a special focus on inherited neuromuscular diseases. For over a decade, his work has revolved around decoding the complex genotype-phenotype correlation in spinal muscular atrophy (SMA), the centerpiece of his doctoral thesis. During his research, Milos significantly advanced the molecular diagnostic procedures for SMA, transforming the diagnostic landscape for this disease in Serbia.
He also led a groundbreaking feasibility study to implement newborn screening for SMA, paving the way for the program he now oversees as the leader of Serbia’s national newborn screening for SMA. Beyond diagnostics and screening, Milos explores the potential of biomarkers to measure the effectiveness of innovative genetic therapies for SMA.
As an assistant professor at the University of Belgrade-Faculty of Biology, he inspires the next generation of scientists while sharing his expertise as a sought-after speaker at conferences worldwide. Milos Brkusanin’s work embodies a blend of innovation, dedication, and a vision for improving patient outcomes.
Dušanka Savić-Pavićević is a Full Professor of Molecular Biology and the Head of the Center for Human Molecular Genetics at the University of Belgrade – Faculty of Biology. Her long-term vision is to advance patient care by integrating genetic testing into clinical practice. Through her dedicated efforts and the commitment of her motivated team, over 2,000 individuals in Serbia and neighboring countries have received accurate diagnoses.
Recognizing the importance of early intervention following the approval of SMA therapies, she identified neonatal screening as the next critical milestone. Professor Savić-Pavićević supervised the feasibility study for implementing newborn screening for SMA and currently supervises Serbia’s national SMA newborn screening program.
In addition to her contributions to diagnostics and screening, she serves as Principal Investigator in molecular genetics research on rare neuromuscular diseases, focusing on conditions such as myotonic dystrophies, spinal muscular atrophy, and myasthenia gravis. Her research aims to enhance understanding of individual patient variability to achieve personalized treatment strategies and identify novel biomarkers using state-of-the-art methodologies.
Nemanja Garai is an emerging researcher in human molecular genetics, specializing in neuromuscular diseases. His work focuses on unraveling the genetic foundations and identifying pharmacodynamic biomarkers in autoimmune myasthenia gravis, which serves as the central theme of his doctoral dissertation. Garai contributed to the pioneering feasibility study that led to the establishment of newborn screening for SMA in Serbia and currently plays a pivotal role in the ongoing implementation of the national SMA screening program. He assists the project leader in organizing the workflow, ensuring the accuracy of results for each newborn tested, and providing crucial support in the day-to-day operations.
As a teaching assistant at the University of Belgrade-Faculty of Biology, Garai combines his passion for research with a commitment to teaching, mentoring the next generation of scientists. He has also participated in international scientific conferences, engaging with the global research community. Garai’s work exemplifies practical application of science, and a drive to improve patient outcomes through the integration of molecular genetics into clinical settings.
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