The identification and analysis of genes and proteins underlying recessive familial exudative vitreoretinopathy (FEVR). (360G-Wellcome-080313_Z_06_Z)

£149,340

This project aims to identify and characterise the proteins underlying retinal vasculogenesis and angiogenesis by studying familial exudative vitreoretinopathy (FEVR), an inherited blinding disorder of the retinal vascular system. Genetic studies, in which my supervisor and collaborators have already played a major role, have identified three of the genes responsible for FEVR; NDP for X-linked FEVR, FZD4 for dominant FEVR and LRP5 for both dominant and recessive FEVR. However, these genes account for < 50% of FEVR cases and in particular LRP5 accounts for < 25% of recessive FEVR cases.In this project I intend to identify a new gene(s) responsible for the recessive form of FEVR by analysing a collection of consanguineous recessive FEVR families which don't harbour LRP5 mutations. A new locus will be mapped by identifying regions of autozygosity by microarray whole-genome SNP analysis, followed by traditional microsatellite genotyping and linkage analysis. A candidate gene approach will then be used to identify the mutated gene. Identifying further genes underlying FEVR will increase our understanding of this disease, facilitating its management and treatment. This work will also provide insights into retinal vessel formation, which should contribute to the study of other diseases involving abnormal vascular development.

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Grant Details

Amount Awarded 149340
Applicant Surname Gilmour
Approval Committee Clinical Interview Committee
Award Date 2006-12-07T00:00:00+00:00
Financial Year 2006/07
Grant Programme: Title Research Training Fellowship
Internal ID 080313/Z/06/Z
Lead Applicant Mr David Gilmour
Partnership Value 149340
Planned Dates: End Date 2009-08-31T00:00:00+00:00
Planned Dates: Start Date 2007-09-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Yorkshire and the Humber
Sponsor(s) Dr Carmel Toomes