1. ESRC Genomics Network (archive)
  2. Gengage
  3. The Human Genre Project

Cesagen · Research

Mitochondrial genomics: Challenges for communication and policy

Rebecca Dimond

Start date

2011-04-01

Affiliated staff

Ruth Chadwick

Contact

dimondr1@cf.ac.uk, Tel: 02920 870026

Background

Mitochondria are described as the ‘batteries’ or the ‘powerhouse’ of a cell. A failure of the mitochondria impairs the function of organs that require a lot of energy, such as the brain and muscles, and can therefore have a serious impact on patients. Mitochondrial disease has a complex pattern of genetic transmission and is primarily passed from mother to child. For the patient, symptoms and severity depends on a ‘thresh hold’ of faulty mitochondria compared to healthy mitochondria. The uncertainty of multiple cause and unpredictable outcome, in conjunction with mitochondrial disease as a rare disease, challenges clinical practice. There is currently no cure yet recent developments in reproductive technologies include the replacement of faulty mitochondria of a fertilised egg with healthy mitochondria from a ‘third parent’. The possibility of genetic manipulation, which has attracted extensive media attention, has implications for regulatory frameworks and raises fundamental questions about identity and kinship.

Aims

This study explores the social and ethical issues of mitochondrial disease by focusing on three key areas:a. Patient narratives of health, illness and genetic risk. b. The role of genetic technologies in the construction of disease categories and implications for patient populations. c. The relationship between perceptions of mitochondrial disease and practices of communication.

Methods

This qualitative project takes a three stage approach, involving media analysis, interviews and observation. Discourse analysis will be conducted to identify how mitochondrial science and reproductive technologies are represented to a ‘lay’ audience through national media. Interviews will be conducted with patients with mitochondrial disease and health professionals involved in their clinical management. Finally, clinical consultations will be observed to further knowledge of the relationship between clinician and patient in the context of a rare and complex disorder.

Project update

Emerging Themes:

  • Representation of science
  • Rare disease – community and isolation
  • Meanings of ‘genetics’

Further information

For further information, please contact