Ormondroyd Group: Development of genetic therapies for cardiomyopathy: creating an evidence base for ethical and clinical implementation

About the Research

Research in our group involves using social science methods to explore diverse perspectives and emerging ethical, clinical and practical issues raised by new technologies in genomic medicine.

For example, a recent focus has been ‘secondary findings’ in individuals undergoing genome sequencing such as in the 100,000 Genomes Project. Secondary findings are unrelated to clinical presentation, and imply uncertain risk of serious but treatable health conditions; they are often unexpected by patients and health professionals. During the progression of genome sequencing from research to clinical setting, we have sought to understand how secondary findings are perceived by professionals and patients, correlate with genotype, and how disclosure impacts patients and health services.

A current focus is developing genetic therapies for cardiomyopathies, a group of inherited disorders affecting the heart muscle, which can significantly affect people at all life stages: CureHeart (https://cureheart.web.ox.ac.uk/) is a major new Oxford-led international project. CureHeart will develop cutting-edge DNA-based techniques to treat these clinically and genetically heterogeneous disorders, and we are interested in identifying and understanding emerging ethical issues and the range of factors that need to be considered for successful clinical implementation.

The project will involve empirical work with stakeholders, including patients, healthcare professionals, scientists, regulators and policy makers, to establish an in-depth framing of current issues and those emerging as CureHeart progresses. This project will be embedded within the wider CureHeart project, and a successful applicant will spend time in the basic research laboratory and NHS Inherited Cardiac Conditions clinic to enable contextualisation of their research.

The research will be interdisciplinary. Our group works closely with a clinical (NHS) service caring for patients and families with cardiomyopathy, and the wider research group undertakes basic laboratory and bioinformatics research in genetics.  These interactions ensure that our research is responsive to, and informed by developing technology, and is relevant for clinical practice. The project will be co-supervised by Professor Hugh Watkins (CureHeart lead) and Associate Professor Ruth Horn (https://www.ethox.ox.ac.uk/team/ruth-horn) who is affiliated with the Ethox Centre.

Training Opportunities

A successful candidate would be encouraged to take part in any DPhil training that might be provided in the department of Cardiovascular Medicine and the Ethox Centre.

Training opportunities include:

Qualitative and quantitative methodologies; design and analysis of semi-structured interviews, focus groups, surveys; introduction to (empirical) bioethics.

Depending on the interests of a successful applicant, it will be possible to acquire a working knowledge of the roles and practice of some of the various stakeholders.

Students are encouraged to attend the MRC Weatherall Institute of Molecular Medicine DPhil Course, which takes place in the autumn of their first year. Running over several days, this course helps students to develop basic research and presentation skills, as well as introducing them to a wide range of scientific techniques and principles, ensuring that students have the opportunity to build a broad-based understanding of differing research methodologies.

Generic skills training is offered through the Medical Sciences Division's Skills Training Programme. This programme offers a comprehensive range of courses covering many important areas of researcher development: knowledge and intellectual abilities, personal effectiveness, research governance and organisation, and engagement, influence, and impact. Students are actively encouraged to take advantage of the training opportunities available to them.

As well as the specific training detailed above, students will have access to a wide range of seminars and training opportunities through the many research institutes and centres based in Oxford.

The Department has a successful mentoring scheme, open to graduate students, which provides an additional possible channel for personal and professional development outside the regular supervisory framework. We hold an Athena SWAN Silver Award in recognition of our efforts to build a happy and rewarding environment where all staff and students are supported to achieve their full potential.

Additional Supervisors

This is an interdisciplinary project. A successful candidate would be encouraged to attend team meetings in the department of Cardiovascular Medicine and the Ethox Centre. Other senior members of both departments will be available for additional guidance and support.

Publications