Research
Mitochondria power nearly every process in the human body, from energy production to cell death, so when their function breaks down the consequences are felt across almost every organ system. Our lab combines computational biology, population-scale genomics and molecular data to understand how genetic variation shapes mitochondrial gene expression, and how these processes, when disrupted, contribute to human disease.
The mitochondrial genome is transcribed as a long strand containing multiple genes, which must then be precisely cut, chemically modified and matured into individual RNAs. We study the nuclear enzymes and post-transcriptional events, including RNA cleavage, base modification and polyadenylation, that shape this process, and how variation in these steps alters mitochondrial gene output.
Although mitochondria carry their own genome, almost all of the machinery that controls it is encoded in the nucleus. We map the nuclear genetic variants that regulate mitochondrial RNA processing across human tissues, revealing an extensive and often tissue-specific dialogue between the two genomes.
Because mitochondrial function underpins so many tissues, its disruption is linked to a remarkably broad range of conditions, from cancer and cardiometabolic disease to neurodegeneration. We use large population cohorts, including UK Biobank, to test whether genetically driven variation in mitochondrial RNA processing contributes causally to disease risk.