Protein evolution

Single-cell functional genomics

Genome-wide association studies have revolutionized our understanding of diseases by identifying variants and genes linked to various diseases. However, a crucial challenge lies in effectively prioritizing disease-relevant genes and gaining deeper insights into the underlying mechanisms. To address this challenge, we employ a promising approach that investigates whether genes associated with diseases exhibit preferential expression in distinct cell types. By utilizing state-of-the-art single-cell transcriptomics in our 10X Genomics core facility at the institute for human genetics, we aim to better understand the cellular heterogeneity and its role in disease pathogenesis.

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Evolutionary Medicine

Investigating the evolutionary conservation of human disease genes is crucial for understanding the genetic basis of diseases and their evolution over time. This approach can provide insights into the fundamental questions in evolutionary medicine, such as the mechanisms that maintain disease variants in populations and which diseases and traits are under stronger or weaker selection pressures. This is particularly important for polygenic diseases, which result from the interaction of multiple genes. The genetic basis of such diseases is more complex than monogenic diseases, and we often lack a systematic understanding of the evolutionary conservation of the genes linked to such diseases. 

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Protein Phase Separation

The phenomenon of functional protein aggregation and protein phase-separation is a remarkable observation that has dramatically changed our understanding of fundamental concepts such as physiological versus pathological states of proteins, cellular compartmentalization, and stress response. This is a fascinating field of research with enormous potential for both conceptual advances as well as novel therapeutic applications. Over the past few years, we have been working on the evolution of the FET family of proteins in mammals with the aim to decipher the evolutionary forces that keep phase separating proteins functional and avoid their transitions into pathological aggregates. 

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