Stefano Romeo

Professor Stefano Romeo leads the Human Translational Genetics group at Karolinska Institutet's Department of Medicine, Huddinge, where his research bridges genetics, metabolism, and clinical medicine to address metabolic diseases. His work focuses on uncovering genetic and molecular mechanisms underlying liver diseases, diabetes, and cardiovascular conditions through innovative translational approaches.

Professor Romeo's research has significantly advanced our understanding of metabolic dysfunction-associated steatotic liver disease (MASLD), identifying key genetic variants including PNPLA3 and MBOAT7 genes. He pioneered the development of multilineage 3D in vitro models for fatty liver disease and discovered a protective genetic variant in the PSD3 gene. His landmark achievement is the identification of two distinct MASLD types with different cardiometabolic risk profiles using compartmentalized polygenic risk scores, which has major implications for targeted treatment approaches.

In cardiovascular research, Professor Romeo has developed machine learning algorithms for diagnosing familial hypercholesterolemia and elucidated the role of lipoprotein(a) as an independent cardiovascular risk factor. His integrated approach combines genomics, bioinformatics, molecular biology, and clinical investigations to translate discoveries into practical applications.

• Research Focus Areas:
• Genetic basis of metabolic liver diseases
• Cardiometabolic risk stratification
• 3D disease modeling and therapeutic testing
• Polygenic risk scoring for precision medicine
• Molecular pathways in lipid metabolism

Professor Romeo's work has resulted in numerous high-impact publications in journals including Nature Medicine and Journal of Hepatology, demonstrating his leadership in translating genetic insights into improved disease prediction, prevention, and therapeutic outcomes for patients with metabolic disorders.