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Impact of Complement Factor H and Genetic Innovations on Age-Related Macular Degeneration and Eye Diseases

This comprehensive overview highlights the role of complement factor H in age-related macular degeneration (AMD) and discusses significant advancements in gene therapy, particularly for Leber's Congenital Amaurosis (LCA). It addresses findings on genetic polymorphisms associated with AMD, the effectiveness of gene transfer techniques for restoring vision, and the implications of sequencing technologies for understanding eye diseases. Moreover, it covers the importance of mutation screening and the identification of pseudogenes in disease mechanisms, providing insights into the genetic underpinnings of ocular health.

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Impact of Complement Factor H and Genetic Innovations on Age-Related Macular Degeneration and Eye Diseases

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  1. Topics • Complement Factor H and age-related macular degeneration • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Hageman, 2005 • Complement Factor H Polymorphism in Age-Related Macular Degeneration, Kline, 2005. • Tilling arrays (Two papers) • Biological function of unannotated transcription during the early development of Drosophila melanogaster, Manak, 2006. • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project, 2007. • Mutation Screening, Prioritization, prediction, or agregating • Prioritizing Regions of Candidate Genes forEfficient Mutation Screening, Braun, 2006 • TRANSCRIPT ANNOTATION PRIORITIZATION AND SCREENING SYSTEM (TRAPSS) FOR MUTATION SCREENING, O'Leary. • Leber's Congenital Amaurosis (LCA) and Gene Therapy • Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis, Maguire, 2008 • Long-Term Restoration of Rod and Cone Vision by Single Dose rAAV-Mediated Gene Transfer to the Retina in a Canine Model of Childhood Blindness, Acland, 2005 • Pseudogene Prediction/Finding • Genome-Wide Identification of PseudogenesCapable of Disease-Causing Gene Conversion, Bischoff, 2006 • eQTL Mapping • Regulation of gene expression in the mammalian eye and its relevance to eye disease, Scheetz, 2007 • Sequence Capture and/or Pyrophosphate sequencing and/or 454 • The impact of next-generation sequencing technology on genetics, Mardis, 2008 • BBS • Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor-likeGene as the Cause of Bardet-Biedl Syndrome (BBS3), Chiang, 2004. • Copy Number Variations • Epigenetic prediction • Protein folding • Allelic variation of Spectrum • Methylation sites, prediction, or cataloging

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