Schlein

Prof. Dr. Schlein is a researcher at the Department of Human Genetics within the Medical Faculty of Universitätsklinikum Eppendorf (UKE). Their work focuses on genetic and metabolic mechanisms underlying rare diseases, cardiometabolic health, and mitochondrial disorders. They lead the Schlein research group (AG Schlein) and collaborate on projects integrating genomics, lipidomics, and clinical phenotyping.

Research interests include pleiotropic genetic effects, lipid metabolism regulation, and the interplay between genetic variants and disease outcomes. Recent work emphasizes next-generation phenotyping for ultrarare disorders, TXNIP’s role in insulin resistance, and MORC2’s epigenetic impacts. Their studies bridge basic science (e.g., adipocyte biology, mitochondrial dysfunction) with clinical applications in diagnostics and therapeutics.

Key contributions include identifying LRRC7 mutations linked to neurodevelopmental disorders and discovering TXNIP’s critical role in cardiometabolic health. They also investigate aortic pathophysiology and lipid signatures in mitochondrial diseases. Publications span 2014–2025, with a focus on translational research to improve genetic diagnostics and metabolic disease management.