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The genetic and developmental causes of congenital forearm differences

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  • Full or part time
    Dr M Davey
    Dr M McGrew
    Mr Wee Lam
  • Application Deadline
    No more applications being accepted
  • Competition Funded PhD Project (Students Worldwide)
    Competition Funded PhD Project (Students Worldwide)

Project Description

The newly established four-year Medical Sciences & Translational Research PhD with integrated studies in Engagement for Impact Programme will combine medical science and translational research projects with integrated and credited teaching in science communication, public engagement, patient involvement, data design and informatics, via established MSc courses and/or new Engagement for Impact courses. Our vision is to teach a generation of researchers equipped to address and solve real-world problems through excellent science and who have the engagement and impact skills we believe will give them an edge in their future careers.

This potential PhD project, selectable by successful applicants to this Programme, is supervised by Dr Megan G Davey ( at The Roslin Institute, with co-supervisors Dr Mike McGrew and Mr Wee L Lam.

Project Summary:
This project seeks to illuminate the genetic networks which control the development of the forearm, particularly posterior-anterior (ulna-radius) patterning, in order to understand the pathology of the abnormal limb, to improve genetic diagnosis and counselling, to inform patient management and treatment and to add to our overall knowledge of the mechanisms of embryonic development. Using developing chicken embryos as our primary model, we will utilise genome engineering to model genetic loci known to be causative of abnormal forearm development in human but which are difficult to study in other models, in particular FANCA, FANCC as well as the long range-enhancer of SHH.

Davey MG, Balic A, Rainger J, Sang HM, McGrew MJ (2018). Illuminating the chicken model through genetic modification. Int J Dev Biol. 257-264.PMID: 29616734
Lam WL, Oh JDH, Johnson EJ, Pertinez SP, Stephens C, Davey MG (2018). Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.J Hand Surg Eur Vol. 2018 Jan 1. PMID: 29587601

Engagement for Impact:
Abnormal limb development- particularly of the hand and foot is common. Intensive research over the last five decades has illuminated the genetic and environmental causes of many of these congenital differences. There has, however, been a failure in communication and engagement between the three major stakeholders; the patients, research scientists and clinicians. The translation of the fundamental scientific discoveries and ideas to clinical practise, has been slow, partially due to a lack of collaboration between the scientific and clinical fields. Moreover the needs of patients have often not been considered important factors in experimental design, nor has there been a drive to translate technical scientific findings into accessible formats for either clinicians or patients. Thus patients with congenital limb differences are often unaware of the causes of their differences and their significant and important place in understanding the laws of developmental biology.
Within this PhD project we aim to:
1) Hold two patient and family focused Scientific Workshops at Easter Bush Science Outreach Centre (EBSOC) with interactive demonstrations of the techniques we use to understand limb development. We will encourage an open forum between participants to discuss
-what their limb differences mean to them
-what they would like research to help them understand/prevent/improve about their limb difference
-what resources they would like to be made available to help explain the cause of their limb difference to others.

2) Expectations of participants will be assessed before and after the Workshop, and a summary of Outcomes will be distributed to all participants after the event. We expect that this work will also be presented at a specialised Hand Surgery Conference (e.g. Autumn BSSH conference). All non-invited participants (e.g. the scientific staff), will undertake PE Best Practice training, which has been developed by The Roslin Public Engagement Team.

3) Based on the outcomes of the Workshop we will develop accessible literature and web content on the most common genetic causes of congenital limb differences- particularly pre-axial polydactyly and phocomelia. Importantly, this content will positively celebrate congenital limb differences. We will ask those accessing the online content to undertake an optional questionnaire, regarding the what research they would like to help them understand/prevent/improve their limb difference, which we will analyse and use as evidence for future experimental design.

Funding Notes

This is one of the potential projects in the University of Edinburgh College of Medicine and Veterinary Medicine’s new 4 year Medical Sciences & Translational Research PhD with integrated studies in Engagement for Impact Programme. Successful applicants will select their preferred PhD projects from the available options in discussion with proposed supervisors. Three studentships are available in the programme, providing full tuition fees (EU/UK rate only), stipend of at least £15,000 per year, £450 annual travel and conference allowance, dedicated engagement support grant of £1,500, and £5,000 annually towards research consumable costs.
Apply before 26th January 2020 at

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