Genetics Experts

Bill Copeland

Institut Pasteur de Bangui


is Chief of the Genome Integrity and Structural Biology Laboratory and head of the Mitochondrial DNA Replication Group, which studies mitochondrial diseases. Mitochondrial diseases are devastating disorders for which there is no cure and no proven treatment. About 1 in 4000 individuals is at risk of developing a mitochondrial disease sometime in their lifetime. Half of those affected are children who show symptoms before age five, and approximately 80% of them will die before age 20. The mortality rate is roughly that of cancer. The human suffering imposed by mitochondrial and metabolic diseases is enormous, yet much work is needed to understand the genetic and environmental causes of these diseases. Mitochondrial genetic diseases are characterized by alterations in the mitochondrial genome, as point mutations, deletions, rearrangements, or depletion of the mitochondrial DNA (mtDNA). The mutation rate of the mitochondrial genome is 10–20 times greater than of nuclear DNA, and mtDNA is more prone to oxidative damage than is nuclear DNA. Mutations in human mtDNA cause premature aging, severe neuromuscular pathologies and maternally inherited metabolic diseases, and influence apoptosis.

Research Interest

Mitochondrial diseases and mitochondrial DNA replication Disease mutations in the gene for DNA pol γ Mitochondrial toxicity induced by anti-HIV nucleoside analogs


  • Elucidation of the role of the human pol γ in induced mitochondrial toxicity caused by anti-HIV nucleoside analogs

  • Current projects: Characterization of the role of human pol γ in mtDNA mutagenesis Study of the molecular effects of disease mutations in pol γ and development of a web-based database that lists all published mutations in the POLG coding region and describes the associated diseases

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