Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within the population genetics community frequently overlook the importance of these criteria when associating observed phenotypic variation with evolutionary explanations. A functional investigation of population-specific variation using cutting-edge genome editing tools has the potential to empower the population genetics community by holding “just-so” evolutionary explanations accountable. Here, we detail currently available precision genome editing tools and methods, with a particular emphasis on base editing, that can be applied to functionally investigate population-specific point mutations. We use the recent identification of thrifty mutations in the CREBRF gene as an example of the current dire need for an alliance between the fields of population genetics and genome editing.

Keolu Fox will be talking about his research at this CEMinar. Dr. Fox earned his doctorate in Genome Sciences in 2016 at the University of Washington, Seattle. He then went on to serve as a postdoctoral fellow at UCSD since 2016, during which he was awarded the NIH, Institutional Research and Academic Career Development Award (2017) and the UC Chancellors’ Postdoctoral Fellowship (2018). Dr. Fox’s research program is multi-disciplinary in nature, reflecting his interdisciplinary research experience in anthropology, genomics and computer science. His primary research focuses on questions of functionalizing genomics, which involves putting to the test theories of natural selection by editing genes and determining the function of the mutations. This unique approach of hypothesis testing through gene editing allows him to examine and test the effects of genetic variants assumed to be under natural selection, such as “thrifty genes” in Polynesians, or Neanderthal variants in human cell lines. 

Dr. Fox is using the latest gene editing (CRISPR) technologies to ask anthropological questions about natural selection in humans and other closely related species that have never before been testable. Based on this work, he has been granted prestigious awards from Anthropological institutions including the American Association for Physical Anthropology (Cobb Professional Development Grant) 2018 and the National Geographic Emerging Explorer (selected as one of fourteen ‘world-changers’). His work has implications for understandings fundamental biological processes and diseases, and for these as they affect social groups. Dr. Fox connects biological anthropology with other subfields to address the relationship of genomics to society, the relationship of indigenous communities to science, questions of human health from a holistic biocultural perspective, and paleogenetics as a complement to archeological science.