- ISBN: 9780415496650 | 0415496659
- Cover: Hardcover
- Copyright: 11/10/2011
This monograph is a contribution to the growing literature on genetic medicine. Based on original ethnographic research with scientists, clinicians and families, we use our examination of one particular condition (Rett syndrome) to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of Rett syndrome. The research, funded by the Healthcare Trust, documents the scientific, clinical, patient and family experiences over a three-year period. This work is situated in a broader body of work and involvement in medical genetics in the UK and internationally. The monograph builds on the authors#xE2;#xAC;" extensive research on genetic syndromes and dysmorphology (developmental problems), as well as the authors#xE2;#xAC;" previously published monograph, Feathersone, Atkinson, Bharadwaj and Clarke, Risky Relations (Berg 2005). The book is built around a case-study of Rett syndrome, its definition, recognition, description and diagnosis. Rett syndrome is a developmental disorder that causes severe and profound learning disabilities. Although Rett syndrome itself is rare, it is one of some 2,000 such syndromes. Moreover, its genetic basis has recently been linked to the much broader Autism spectrum. From a sociological or anthropological point of view, Rett Syndrome is of considerable interest: it is a clinical entity that is undergoing transformation in the light of recent post-genomic research. Traditionally, such syndromes have been diagnosed clinically, but increasingly genetic technologies are having an impact on the diagnosis, description and classification of conditions. Rett Syndrome is thus a key exemplar of the implications of genetic medicine that are far-reaching and extend well beyond this particular syndrome.