In recent years numerous mutations in genes encoding proteins involved in development, structure, function and maintenance of photoreceptor cilia have been linked to human disease. The preARVO 2012 satellite meeting will review the latest developments in retina ciliopathies including retinitis pigmentosa, Leber congenital amaurosis, and Usher/ Bardet-Biedl syndromes. We will focus on genes involved in intraflagellar transport, photoreceptor outer segment morphogenesis, molecular motors and novel animal models that closely mimic human ciliopathies. Main emphasis is on human/mouse genetics, next generation DNA sequencing, proteomics, biochemistry, and cell biology.
Wolfgang Baehr, University of Utah, USA
Hemant Khanna, University of Massachusetts Medical School, USA
Marius Ueffing, University of Tübingen, Germany
Samuel M. Wu, Baylor College of Medicine, USA