The featured paper is ‘Software Support for Huntington’s Disease’ by Conneally and colleagues and freely available here. I have included this paper under the social psychiatry category as it examines the effects of changes in technology on understanding of an illness – Huntington’s Disease. The authors describe the MEGADATS database which was developed to help the researchers enter pedigree information from the Huntington’s Disease Research Roster into a database. At the time of the study, the roster had information on nearly 92,000 people – quite a remarkable number and testimony to the dedication of the team organising this roster which started in the 1979 (the website can be found here and at the time of writing contained 134,000 individuals). The authors go on to describe the types of information that are stored in each of the MEGADATS and Roster databases as well as the possibility of passing queries across both databases. The authors then describe the complexities that arise from having such a large database particularly when a person can be included in two pedigrees as a result of marriage to a partner from an affected pedigree. The authors then cover some of the more technical aspects of the software-hardware interface such as printing which are most likely quite dated now. However in the conclusion the authors cover some of the remarkable accomplishments that have been contributed to by the establishment of these databases including the identification of the candidate gene on the short arm of chromosome 4 as well as identification of heterogeneity in the disease.
In summary this is a descriptive paper, showing some of the significant ways in which the establishment of a registry and databases for analysing data has ultimately had an impact on people’s lives through the effects of the gene discovery.
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