Rare diseases affect over 400 million people worldwide and present a major opportunity for health system reform. Primary mitochondrial disease comprises progressive, genetically heterogeneous disorders caused by pathogenic variants in mitochondrial or nuclear DNA, with an estimated prevalence of 1 in 4300 and likely un...
Amanda Temby, R. Stefanetti, Lyndsey Butterworth et al.· BMJ Innovations· 0 citations
Quantifying mitochondrial DNA (mtDNA) heteroplasmy is critical for diagnosis, prognosis, and monitoring of mitochondrial disease, particularly that caused by the m.3243 A > G pathogenic variant, where tissue-specific heteroplasmy contributes to disease expression. However, current methods often rely on invasive o...
Charlotte Warren, R. Stefanetti, Isabel Barrow et al.· Communications Medicine· 0 citations
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al.· Neurology: Genetics· 0 citations
Advances in therapeutic discoveries and clinical trials are challenging the obsolete dogma that PMDs are untreatable and bringing hope to patients; four compounds have been licensed, and many trials are in progress.
A. Lim, Aye Moe, R. Stefanetti et al.· Genes· 0 citations
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