From mitochon­dr­ial genotypes to pheno­types with single-cell multi-omics

Pauline Kautz – Hector RCD Awardee Leif Ludwig

Somatic mitochon­dr­ial DNA (mtDNA) mutations are associ­ated with a wide range of human disor­ders, yet it has been diffi­cult to reliably estab­lish mitochon­dr­ial genotype-pheno­type associ­a­tions. There­fore, we aim to integrate metabolic profil­ing readouts with single-cell multi-omics sequenc­ing techniques to charac­terise the conse­quences of patho­genic mtDNA mutations and increased mitochon­dr­ial mutational burden at the cellu­lar and genomic level.

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