Mitochondria and oxidative phosphorylation (OxPhos) are essential for cellular homeostasis. However, the phenotypes caused by mitochondrial dysfunction often display remarkable tissue-specificity. Wha...

Analysis scripts for "Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in different organs in vivo" - JvdAlab/mtDN...

Chandrasegaram et al. directly visualize mitochondrial DNA inside intact cells and tissues and reveal how genetic cell-to-cell variability arises during development. They show that somatic bottlenecks...

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The replication, transcription and quality control of mitochondrial DNA are tightly regulated by nuclear-encoded mitochondrial proteins. We developed MitoPerturb-Seq, a high-throughput single-cell app...

Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA...

Analysis scripts for "MitoPerturb-Seq identifies common and gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy" - JvdAlab/mitoPerturb-Seq

Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA...

Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic ody...

Nuclear-mitochondrial genetic interactions in health and neurodegenerative diseases Fixed-term: The funds for this post are available until 30 September 2028 in the first instance. The University of

Bioinformatician - disease gene discovery - inherited mitochondrial diseases (Fixed Term) in the Division of Neurology at the University of Cambridge.

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Scientists hope to find a cure for a genetic condition linked back to a single Cumbrian family line.

Rare disease research faces unique challenges including lack of investment, small patient populations, fragmented research and challenging routes to…

In the life of a vertebrate embryo, gene expression is initiated for the first time at zygotic genome activation (ZGA). Maternally expressed transcription factors present in the embryo are essential f...

Research Coordinator (Fixed Term) in the Division of Neurology at the University of Cambridge.

Your hub for the latest news, views and breakthroughs in mitochondrial disease research. categories: Research on the road,Researcher spotlight,PPIE round-up,Science unwrapped,Journal club,Trials hub

Studying the genetic basis and mechanisms of mitochondrial diseases. Our aim is to provide a precise diagnosis and to discover new treatments.