Research Group Genetics of Mitochondrial Disorders

The Mitochondrial research group seeks to understand genetic variations in both rare and common disorders leading to mitochondria-related disease.

We apply cutting edge sequencing and proteomic technology to improve diagnostics and our understanding of functional consequences.

We take advantage of the dysfunction in patient fibroblast to study the role of novel disease genes in mitochondrial pathomechanism.

We focuse on the question whether we can transform the knowledge of disease mutations, the function of the affected protein and the insight into the pathomechanism into new treatment options for affected patients.

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