Patient and family trajectories of mitochondrial disease
Diversity, uncertainty and genetic risk
Dados Bibliográficos
| ID | 8248690 |
|---|---|
| Autores | Rebecca Dimond (0000-0003-1974-7289, Cardiff University, autor correspondente) |
| Ano | 2013 |
| Volume | 9 |
| Fascículo | 1 |
| Data de publicação | 2013-12-01 |
| Peer Reviewed | Sim |
| Open Access | Sim |
| Tipo | ARTICLE |
| Periódico | Life Sciences Society and Policy (JOURNAL) |
| Identificadores do periódico | ISSN: 2195-7819 • E-ISSN: 2195-7819 |
| Editora | Springer Science and Business Media LLC (PUBLISHER) |
| DOI | 10.1186/2195-7819-9-2 |
| OpenAlex | W2119156217 |
| Idioma | EN |
| Citações recebidas | 4 |
| Referências citadas | 41 |
Mitochondrial disease can be a devastating, degenerative illness, with limited treatment and no cure. Novel reproductive techniques involving mitochondria donation present an opportunity for women with mitochondrial disease to prevent the transmission of disease to her offspring. Current IVF techniques, such as pre-implantation genetic diagnosis, reduce but do not eliminate the risk for the child. However, knowledge of the contexts within which this disease is experienced and reproductive decisions are made is limited. This article draws on qualitative interviews with adult patients to explore the practical realities of living with mitochondrial disease. Three key themes were identified; the personal and familial experiences of illness, age and generation as factors in shaping patient experience and the importance of experiential knowledge in making sense of reproductive choice. Overall, this article identifies potential barriers to patients accessing reproductive technologies highlighting how the complex nature and uncertain trajectory of mitochondrial disease poses considerable challenges for patients, practitioners and policy makers
Biology · Disease · Epistemology · Experiential knowledge · Experiential learning · Mitochondrial disease · Mitochondrial DNA · Offspring · Pathology · Political science · Pregnancy · Genetic Neurodegenerative Diseases · Law · Medicine · Metabolism and Genetic Disorders · Mitochondrial Function and Pathology · Psychology · Genetics
Experiencing the New Genetics
Family and Kinship in East London
Risky Relations. Family, Kinship and the New Genetics by Featherstone, K., Atkinson, P., Bharadwaj, A. and Clarke, A.
Putting a Name to It
Genetic risk
The experience of risk as ‘measured vulnerability
The new genetics and its consequences for family, kinship, medicine and medical genetics
Ruling in and ruling out
A place for genetic uncertainty
Expansion and uncertainty
Chronic illness as biographical disruption
Lay constructions of genetic risk
| Obras citantes distintas | 4 |
|---|---|
| Citações por ano | 0,5 |
| Intervalo de citações | 2018 - 2026 (9) |
| Velocidade de citação | current |
| Altamente citado | Não |
| Tipos de citação | Neutras: 4 |