Precision Medicine Doctoral Training Programme

The genetics underlying imaging phenotypes and correlated physiological measures

Project Details - The genetics underlying imaging phenotypes and correlated physiological measures

Supervisor(s): Prof Albert Tenesa, Dr Miguel O. Bernabeu & Claire Tochel
Centre/Institute: The Roslin Institute


Imaging techniques are widely used for early detection and diagnosis of disease. Although widely adopted in clinical practice, it is only partially understood how structural information in medical images relates to physiological function, which may amenable for treatment. Furthermore, our understanding of how imaging phenotypes are determined by genetics and to what degree the genetic control of disease and the imaging phenotypes is shared is very limited. Identifying which imaging phenotypes have genetic correlations (i.e. a genetic shared component) with the disease of interest would inform of shared control pathways and to match disease-subtypes and imaging phenotypes to different biological pathways.

Furthermore, computational modelling approaches can be used to convert structural images into physiologically relevant traits. During this project we will develop both structural measurements and modelling-based estimates of blood flow (i.e. haemodynamics) in the eye from retinal imagines in UK Biobank, a large prospective epidemiological study of 500,000 individuals. Our goal is to identify genes influencing the structural and haemodynamic measurements and dissect their genetic and environmental variation.


  1. To develop structural and haemodynamic measurements in retinal scans of circa 100,000 UK Biobank participants leading to robust biomarkers.
  2. To estimate heritability (i.e. the importance of genetics) of these biomarkers.
  3. To perform a genome-wide and environmental-wide association studies of these traits.
  4. To identify which of the developed biomarkers have the largest shared genetic components in particular in the context of diabetic retinopathy and other small vessel diseases.

Training Outcomes

The successful candidate will work in at the interface of computational Biology and physiology to develop the structural measurements and models of blood flow from retinal images under the supervision of Miguel Bernabeu. Once the phenotypes are generated the person will work on the field of genetics and genomics under the supervision of Albert Tenesa. A background on a mathematically related discipline and programming skills are essential, hence the ideal candidate would be someone with such background wishing a career in biology or medicine related fields.

The expected outcomes of the training programme are:

  • Proficient programming skills
  • Advance mathematical and statistical models
  • Quantitative genetics and genomics
  • In depth understanding of the physiology of the eye
  • Handing of large volume of data (Big data), both in the handling of images and the genetic data

Apply Now

Click here to Apply Now

  • The deadline for 18/19 applications is 5pm on Monday 16th April 2018.
  • Please note all applications for the Precision Medicine DTP should be submitted to University of Edinburgh, even those applying for a project at the University of Glasgow.
  • Applicants must apply to a specific project, ensure you include details of the project you are applying to in Section 4 of your application. We encourage you to contact the primary supervisor prior to making your application.  
  • As you are applying to a specific project, you are not required to submit a Research Proposal as part of your application. 
  • Please ensure you upload as many of the requested documents as possible at the time of submitting your application.