https://www.frontiersin.org/articles/10.3389/fcell.2021.767407/full The application of DNA sequencing has led to tremendous progress in our understanding and diagnosis of mitochondrial disease, with mutations in hundreds of genes now established as causes. However, […]

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183817/ https://pubmed.ncbi.nlm.nih.gov/37021792/ Every now and then there appears a truly novel proposal for alleviating the misery of mitochondrial disease. In this paper an international team presents such an idea. It’s […]

https://erictopol.substack.com/p/on-genome-editing-with-fyodor-urnov?utm_campaign=email-half-post&r=3we41&utm_source=substack&utm_medium=email#details Fyodor Urnov has been a pioneer and leader in genome editing, a term he invented, since that field began.  He is a U.C. Berkeley colleague of Jennifer Doudna, who […]

This paper is a brilliant advance in our scientific understanding of mitochondrial disease, though it does not lead immediately to a treatment.   https://www.pnas.org/doi/10.1073/pnas.2304884120 Leber hereditary optic neuropathy (LHON) is […]

Today I ran across what I thought was an especially clear and concise overview of the several ways in which mitochondria contribute to disease, extracted from the web site of […]