The identification and analysis of genes and proteins underlying recessive familial exudative vitreoretinopathy (FEVR). (360G-Wellcome-080313_Z_06_Z)
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.
Where is this data from?
This data was originally published by The Wellcome Trust. If you see something about your organisation or the funding it has received on this page that doesn't look right you can submit a grantee amendment request. You can hover over codes from standard codelists to see the user-friendly name provided by 360Giving.
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 |