Award details

Fund for Blind Birds

Reference	BBS/E/R/00000697
Principal Investigator / Supervisor	Dr Paul Hocking
Co-Investigators / Co-Supervisors
Institution	The Roslin Institute
Department	The Roslin Institute Department
Funding type	Research
Value (£)	17,244
Status	Completed
Type	Institute Project
Start date	01/04/2006
End date	31/03/2009
Duration	36 months

Abstract

Retinal dystrophies are a common cause of human morbidity and many have a genetic basis. However, the development of specific treatments for these conditions based on the genetic information has been limited in part by the lack of suitable animal models to test therapies. We maintain three chicken lines that were originally reported over twenty years ago and the associated eye defects were shown to be inherited in a recessive manner. Since then, the chicken lines, which are called retinopathy globe enlarged (rge), retinal dysplasia and degeneration (rdd) and blindness enlarged globe (beg). In conjunction with Prof Chris Inglehearn at the University of Leeds we have mapped the genes for rge and rdd, demonstrating in the process that rdd was sex-linked and not autosomally inherited. We have described the pathology of both conditions in more detail than before and in some detail for rge in collaborative research with Dr S Petersen-Jones at the University of Michigan. More recently we have found the mutation for rge (with Dr D Lester, University of Abertay) and rdd (with Dr M Ali, University of Leeds). Further research will characterise the human homologous for these genes in inherited blindness and other diseases in humans, and examine potential therapies. We will conduct similar research for beg which has proved difficult to map using existing (microsatellite) marker sets. Two lines of blind birds (beg and rge) are characterised by globe enlargement whereas rdd and another mutation, rd, are not. We will use these mutations to identify the role of collagen organisation in the control of corneal shape and function with Prof K Meek and Dr C Boote (University of Cardiff) and Dr A. Elsheikh (University of Dundee). We will use these mutations and their specific effects on eye pathology to investigate fundamental aspects of the control of eyesight and defects in vision in collaboration with colleagues in other centres in the UK and abroad.

Summary

unavailable

Committee	Closed Committee - Animal Sciences (AS)
Research Topics	X – not assigned to a current Research Topic
Research Priority	X – Research Priority information not available
Research Initiative	X - not in an Initiative
Funding Scheme	X – not Funded via a specific Funding Scheme

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