Role of Copy Number Variants in Retinal and Oculomotor Phenotypes

The contribution of copy number variants (CNV) towards abnormal retinal and oculomotor phenotypes are unclear. Although there has been significant progress in sequencing it is estimated that current strategies can solve only 55-60% of inherited retinal degeneration cases. Similar estimates are predicted for infantile nystagmus. We hypothesize this is partly due to limitations of current sequencing strategies (for e.g. exome sequencing, targeted next generation sequencing, sanger sequencing) where potential CNVs are missed. In order to assess the contribution of CNVs towards retinal development and abnormal eye movements, the ACF will recruit patients and family members with known CNVs from our local database in clinical genetics and ophthalmology. Families where CNVs fall outside known ocular disease genes will also be recruited in order to assess potential novel associations or overlap with candidate genes. This will include assessing for CNVs within candidate genes from different consortiums (for e.g. 100,000 genomes project, Deciphering Developmental Disorders Study and European Retinal Disease Consortium).

This project would give the ACF the opportunity to develop skills in genomics, retinal phenotyping using handheld optical coherence tomography, image analysis and eye movement recordings

Determining the clinically relevant anatomy to teach UG medical students

Human anatomy has been a core component of undergraduate medical education for many years, and while it continues to be a key theme, the depth of anatomy taught has seen a steady decline. The need for a solid foundation of anatomical knowledge, while more readily appreciated as essential for those pursuing surgical careers, is important for any practicing clinician. Clearly, which areas of anatomy are most relevant will vary depending on the postgraduate speciality. With ever increasing pressures on space within the UG curriculum, there is obvious priority to ensuring what is taught best enables students to meet the demands of the breadth of future clinical practice.

While the GMC do not currently stipulate specific outcomes for the level of anatomy within the UG medical curriculum, the future introduction of the UK Medical Licensing Assessment will likely lead to efforts to better establish ILOs for the basic sciences, as a whole. In 2016, in response to the lack of consensus and guidance on the appropriate level of anatomy, the Anatomical Society defined a core regional anatomy syllabus of 156 ILOs, which were to help curriculum planners determine the clinically relevant anatomy to teach UG medical students. The proposed ILOs were determined by a Delphi panel of experts, which included surgeons, radiologists and anatomists.

The first step of the project will involve a series of focus groups and surveys with a variety of early clinical trainees from medicine, surgery and primary care. The purpose of this will be to identify whether there are elements of the 156 identified ILOs that represent a base of anatomical knowledge common across a breadth of specialities (surgical and non-surgical). The second step will be to explore how well they perceive (by self-report) to have retained knowledge of those areas of anatomy (identified in the first step of the project).

The findings from this project will help to better define areas of anatomy that are seen as most important, relevant and common to a breadth of clinical specialities. Further work/projects could explore how this anatomy could be prioritised or given greater attention within the UG medical curriculum, or early postgraduate period and whether there are any interventions that can be applied to improve retention of knowledge in those areas.


If you are interested in progressing an educational research project within the speciality please contact Professor Bob Norman who is based in the Leicester Medical School.