Mitochondrial disease: understanding genetic risk
Research type
Research Study
Full title
Understanding risk: how complexity and uncertainty of genetic knowledge impacts on reproductive decision making
IRAS ID
153693
Contact name
Rebecca Dimond
Contact email
Sponsor organisation
Cardiff University
Research summary
This research takes place in the context of novel developments in reproductive technologies which could give women with mitochondrial disease the opportunity to have healthy children. This research will contribute to the debate by examining how patients with mitochondrial disease make reproductive choices.
Mitochondria are small energy-producing structures contained in the cytoplasm of a cell and are inherited from mother to child. Scientists at the Wellcome Trust Centre for Mitochondrial Research in Newcastle have developed techniques which involve removing the nucleus of an egg with faulty mitochondria (from a woman with mitochondrial disease) and transferring it into an e-nucleated egg containing healthy mitochondria (from a donor). As mitochondrial DNA from the donor egg can be inherited by future generations, these pioneering 'germ-line' techniques have challenged existing legal and ethical frameworks and a change in law is required for them to be offered to patients. In recent years, '3 parent babies' have dominated the headlines and concern has been raised about the 'slippery slope' towards 'designer children’. However, in the context of a potentially serious disease with no cure and limited treatment, the possibility that a future generation can be born without mitochondrial disease has been widely embraced by many patients and professionals.
Accounts of mitochondrial donation, particularly within media coverage assume a level of technological determinism, that if these techniques are available then this will 'halt', 'eliminate' or 'eradicate' mitochondrial disease from families. Ultimately, the future use of these techniques depends on patients and families assessing complex risk information about themselves and their genetic inheritance. This research will explore how patient experiences of health and illness, understandings of genetic risk and their views on recent developments in reproductive technologies. Through interviews with patients and/or partners, I will examine the implications of contemporary advances and contribute vital knowledge with practical application.REC name
North of Scotland Research Ethics Committee 1
REC reference
14/NS/1017
Date of REC Opinion
9 Jul 2014
REC opinion
Further Information Favourable Opinion