Wallace is a pioneer in the study of mitochondrial DNA. Wallace and his colleagues introduced human mitochondrial genetics into the field of molecular genetics.[10] In 1975, for the first time ever, Wallace could associate a genetic disorder with the mitochondrial DNA region (resistance to chloramphenicol)[11] and in 1990 he described a mitochondrial DNA mutation as the cause of a particular form of myoclonic epilepsy.[12] He has been instrumental in the study of the mitochondrial genome and has developed new methods for the analysis of mitochondrial DNA.[13]
Wallace and his colleagues demonstrated that human mitochondrial DNA is inherited exclusively from the mother[14] and reconstructed the origin and ancient migration patterns of women using variations in mitochondrial DNA sequences.[2][10][15][16]
^Shoffner JM; et al. (1990). "Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation". Cell. 61 (6): 931–7. doi:10.1016/0092-8674(90)90059-n. PMID2112427. S2CID6101099.
^ ab"The Passano Awards". Passano Foundation. Archived from the original on 7 October 2012. Retrieved 25 February 2013. Drs. Attardi and Wallace were selected for their landmark contributions to the mitochondrial genome project and their development of innovative methods for studying mitochondrial genetics and human disease.
^"2012 Gruber Genetics Prize Citation". Gruber Foundation. Retrieved 28 February 2013. The Gruber Foundation proudly presents the 2012 Genetics Prize to Douglas Wallace for the discovery of mutations in the mitochondrial genome and their impact on human health.