Genetic dissection of biomineralisation defects and links with retinal degeneration. (360G-Wellcome-082448_Z_07_Z)

£192,191

We have ascertained patient cohorts with Amelogenesis Imperfecta and retinal degeneration. This proposal aims to determine whether there is a previously unknown common pathway critical to enamel biomineralisation and retinal function, through genetic investigation of these cohorts. Furthermore, as little is known about the genetics of AI, we will also investigate families with AI alone, to better understand enamel biomineralisation and highlight processes which may link it with retinal function. We therefore propose the following investigations; 1) We have DNAs from five pedigrees segregating recessive Cone-Rod Dystrophy and hypomineralised AI. Two link to chromosome 2q11 and share a common haplotype across 1.2Mb. We will analyse the seven genes within the shared region in linked families. 2) We have identified eleven families with recessive Usher Syndrome and hypomineralised AI. SNP mapping has implicated 14 chromosomal regions consistent with linkage. We will test further markers to identify the gene(s) involved. 3) We will use homozygosity mapping in eight families with recessive hypomineralised AI to identify new genes critical to biomineralisation. 4) For any disease-causing gene identified, we will determine pattern of expression, mutation spectrum and phenotype range, including clinical ophthalmic and dental assessments, laboratory analyses of teeth and bone mineral density assessment.

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Grant Details

Amount Awarded 192191
Applicant Surname Mighell
Approval Committee Molecules, Genes and Cells Funding Committee
Award Date 2007-05-16T00:00:00+00:00
Financial Year 2006/07
Grant Programme: Title Project Grant
Internal ID 082448/Z/07/Z
Lead Applicant Dr Alan Mighell
Other Applicant(s) Prof Chris Inglehearn, Prof Jennifer Kirkham
Partnership Value 192191
Planned Dates: End Date 2012-02-29T00:00:00+00:00
Planned Dates: Start Date 2008-07-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Yorkshire and the Humber