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Research in my lab has focused on the role of mitochondrial DNA replication, copy number regulation, DNA damage, and nucleotide signaling in development, aging, healing and regeneration. We also study the systems biology of monogenic and complex diseases like autism and diabetes. We were the first to quantify the risk of neurodegeneration with infection in mitochondrial disease. We were also the first to show that defects in a human DNA polymerase (the mitochondrial DNA polymerase POLG) could cause disease. Our lab has developed a number of advanced technologies like biocavity laser spectroscopy and mtDNA mutation detection by mass spectrometry to help with rapid and early diagnosis of mitochondrial disease. Recently, we have developed new bioinformatic methods to analyze mtDNA sequence data produced by NextGen sequencing platforms like Illumina. These tools, along with state-of-the-art methods in mitochondrial respiratory chain and polarographic analysis permit us to dissect the metabolic and molecular features of virtually any disease of interest. Immediate interests include the genesis and treatment of diabetes and autism, and mutation arrest therapies for cancer and viral disease, with special attention to the crossroads of innate immunity, inflammation, somatic cell genetics, and metabolism.
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COMMUNICATIONS BIOLOGYno. 1 (2024)
Lisa A. Pan,Anna Maria Segreti, Joseph Wrobleski, Annie Shaw,Keith Hyland,Marion Hughes,David N. Finegold,Robert K. Naviaux,David A. Brent,Jerry Vockley,David G. Peters
HELIYONno. 6 (2023)
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