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Dr. Pascal Schlosser is investigating how machine learning can help to understand complex relationships between genes, proteins and diseases in a new Emmy Noether group

Proteins fulfill a variety of biological functions in the human body. If there are disruptions in their production, structure or function, diseases can develop. Using a novel approach that combines machine learning and network analysis, Dr. Pascal Schlosser, statistician at the Institute of Genetic Epidemiology at the Medical Center - University of Freiburg, is investigating the relationship between molecular characteristics, in particular proteins, and diseases. This hypothesis-free approach should help to identify potential therapeutic targets more efficiently and improve the prioritization of experimental clinical follow-up studies.

"The aim is to develop a data-driven, easily accessible and scalable methodology that allows us to draw causal conclusions for disease from complex relationships," says Schlosser, who is also a member of the Cluster of Excellence Centre for Integrative Biological Signalling Studies (CIBSS) and the Collaborative Research Center 1453 Nephrogenetics at the University of Freiburg. The project is funded for six years by the German Research Foundation (DFG) as part of the Emmy Noether Program for early career researchers. The funding includes a program allowance of around 2.3 million euros.

New insights into the power plants of cells

"Our approach not only improves existing genetic analysis methods, but also includes parts of the DNA that are often overlooked, such as the mitochondrial genome," says Schlosser. Mitochondria are important for energy production in cells and are therefore often referred to as the power plants of cells. A central aim of the project is to investigate the connection between mitochondria and their metabolic products. Particular attention is being paid to the function of the kidneys, as the role of mitochondria in energy production is crucial for their ability to effectively remove waste products from the blood. "These findings could also help us to better understand other organs and tissues," says Schlosser.

"The work of Dr. Schlosser and his team marks a milestone in our efforts to decipher the mechanisms behind diseases at the molecular level and underlines the leading role of Freiburg as a research location in genetic and medical research," said Prof. Dr. Lutz Hein, Dean of the Faculty of Medicine - University of Freiburg and member of the Board of Directors of the Medical Center of Freiburg.