In a groundbreaking Nature Genetics paper, our PIs—Anna Köttgen, Miriam Schmidts, and Johannes Hertel—along with early career researchers Nora Scherer and Daniel Fässler, have uncovered key insights into how rare damaging heterozygous variants impact gene function, traits, and disease. Our associated researcher, Pascal Schlosser, and external advisory board member, Ines Thiele, also contributed to this work.
The study combined metabolomic profiling—which analyzes small molecules in biological samples—with whole-exome sequencing, which focuses on the protein-coding regions of the genome. This approach enabled the researchers to observe the graded effects of rare variants, offering new perspectives on their influence on human traits and disease. The findings not only enhance our understanding of genetic architecture but also pave the way for personalized medical interventions tailored to an individual’s unique genetic and metabolic profile.
This research marks a significant advancement in genomics and metabolomics, demonstrating the power of interdisciplinary approaches in decoding the complexities of human health. The article can be found here.
Congratulations to the team!
Institute of Medical Biometry and Statistics,
Faculty of Medicine and Medical Center –
University of Freiburg
