The Role Of Genetic Knowledge And Technology In Familial And Professionals’ Constructions Of Neurofibromatosis Type 1 (Nf1)
SpeakersDaniele Carrieri, Egenis PhD Student
University of Exeter,Egenis,Byrne House,St Germans Road,Exeter, EX4 4PJ
Room no: GF7, Byrne House
Time: 3:30 - 5:00 PM
I am in the second year of my PhD. My aim is to present my research (as a work-in- progress) and some initial ideas. Neurofibromatosis Type 1 (NF1) is one of the most common inherited disorders in humans with a very high spontaneous mutation rate (30-50%). It is an unpredictable progressive syndrome, which causes extreme physical and cognitive variability, even within families and even in the same affected individual at different times in life. For these and other reasons I will argue that NF1 is a very challenging condition to study from a medico-sociological perspective. The key research questions are: 1.How do genetic knowledge and technologies influence the lived experiences and family meanings of NF1, its health related practices and its social relations and values? 2. In what ways do narratives and meanings of NF1 of individuals with the condition reflect or differ from those of family members? 3. What role do clinical experiences play in individual and family network experiences and understandings of NF1? Participants to the study include patients, family networks and health professionals involved in the treatment of NF1. A mixed methodological approach is employed, including qualitative interviews and follow-up.