Search

This essay reflects on how technological changes in biomedicine can affect what archival sources are available for historical research. Historians and anthropologists have examined the ways in which old biomedical samples can be made to serve novel scientific purposes, such as when decades-old frozen tissue specimens are analyzed using new genomic techniques. Those uses are also affected by shifting ethical regimes, which affect who can do what with old samples, or whether anything can be done with them at all. Archival collections are subject to similar dynamics, as institutional change and shifts in ethical guidelines and privacy laws affect which sources can be accessed and which are closed. I witnessed just such a change during my research into human genetics using archives in the Wellcome Collection. A few years into my project, those archives had their privacy conditions reassessed, and I saw how some sources previously seen as neutral were now understood to contain personal sensitive information. This paper describes the conditions of this shift--including the effects of technological change, new ethical considerations, and changing laws around privacy. I reflect on how these affected my understanding of the history of human genetics, and how I and others might narrate it. [ABSTRACT FROM AUTHOR]

In natural populations, genetic variation affects resistance to disease. Whether that genetic variation comprises lots of small-effect polymorphisms or a small number of large-effect polymorphisms has implications for adaptation, selection and how genetic variation is maintained in populations. Furthermore, how much genetic variation there is, and the genes that underlie this variation, affects models of co-evolution between parasites and their hosts. We are studying the genetic variation that affects the resistance of Drosophila melanogaster to its natural pathogen — the vertically transmitted sigma virus. We have carried out three separate quantitative trait locus mapping analyses to map gene variants on the second chromosome that cause variation in the rate at which males transmit the infection to their offspring. All three crosses identified a locus in a similar chromosomal location that causes a large drop in the rate at which the virus is transmitted. We also found evidence for an additional smaller-effect quantitative trait locus elsewhere on the chromosome. Our data, together with previous experiments on the sigma virus and parasitoid wasps, indicate that the resistance of D. melanogaster to co-evolved pathogens is controlled by a limited number of major-effect polymorphisms. [ABSTRACT FROM AUTHOR]