Identification of novelmacular disease genes

Dror Sharon, PhD
Hadassah Medical Organization (Jerusalem, Israel)
Year Awarded:
2004
Grant Duration:
April 1, 2004 to March 31, 2005
Disease:
Macular Degeneration
Award Amount:
$50,000
Grant Reference ID:
M2004003
Award Type:
Standard
Award Region:
International

Identification of novelmacular disease genes

Details

Due to the last decade's dramatic breakthroughs in molecular genetic technologies, our understanding of the molecular pathways that take place in the human retina has been greatly enhanced. Researchers are now able to efficiently perform a screen for mutations in a large number of candidate genes and a large set of patients. Dr. Sharon is working to identify novel recessive macular degeneration genes by performing genetic analysis of Israeli families and to add to our knowledge of genes expressed in the developing human macula. Working with colleagues, Dr. Sharon will use the candidate gene approach and genome-wide linkage analyses to identify novel macular degeneration genes. It is hoped that the combination of these approaches will help identify causative genes, enhance our understanding of the pathogenesis of macular degeneration, and possibly provide the basis for better treatments in the future

Publications

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14.  

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