Personal profile

Research interests

I am a medical science academic with a strong track record in genetics research and wide expertise in teaching and leadership in medical education, including design, implementation, quality control and delivery of components of the medical curriculum at the Bristol Medical School. Current educational roles include Year 1 co-Lead, Student Choice Lead and External Examiner for the University of Saint Andrews.

My current research is mainly focused on medical education, with an interest in curriculum development and design. Previous research since 1992, as Master’, PhD and post-doctoral student, and as an academic since 2006, has enabled me to build leadership in Genetics, including expert knowledge and skills in Population Genetics, Molecular Genetics and Genetic Epidemiology.

My main research theme was the study of the influence of genetic factors on common human diseases from an evolutionary, genetic epidemiological, epigenetic and functional point of view. Specifically, my research team contributed to the genetic characterisation of complex loci including mitochondrial DNA copy number, nuclear CNVs and non-recombining haplogroups. I also published several studies on specific human diseases, both monogenic and multifactorial.

Other studies include linkage disequilibrium analyses, the developing and patenting of a new method for dinucleotide repeat genotyping, the study of the human chromosome Y in the context of complex traits and statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits. My experimental laboratory analyses resulted in several methods developments for the typing of specific SNPs and microsatellites.

External positions

External Examiner, University of St Andrews

1 Oct 20231 Oct 2027

Structured keywords and research groupings

  • Bristol Medical Education Research Group

Keywords

  • Medical Education
  • Curriculum Development
  • Educational Research
  • Medical Genetics

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