14th Vision Research Conference Retina Ciliopathies: From Genes to Mechanisms and Treatment

Date: 4-5 May 2012
Location: Convention Center, Fort Lauderdale, Florida, USA
The 14th Vision Research Conference is a two-day satellite meeting prior to ARVO 2012.

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. This pre-ARVO satellite meeting will review the latest developments in retinal ciliopathies including retinitis pigmentosa, Leber congenital amaurosis, and Usher and 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.

Go to the conference website for registration and additional information.


Opening Speaker
Cilia, IFT and disease
George Witman, University of Massachusetts, United States

Session 1

Vesicular trafficking in photoreceptors and RPE
Chair: Miguel Seabra, University of Lisbon, Portugal
Dusanka Deretic, University of New Mexico, USA
David S. Williams, University of California Los Angeles, USA
Clare Futter, University College London, UK
Peter Calvert, SUNY, USA
Enrique J. Rodriguez-Boulan, Weill Cornell Medical College, USA

Session 2
Intraflagellar transport in photoreceptors
Chair: Eric A Pierce, Harvard Medical School, United States
Iain A. Drummond, Harvard University, USA
Jonathan M. Scholey, University of California at Davis, USA
Brian Perkins, Texas A&M University, USA
Esben Lorentzen, Max Planck Institute of Biochemistry, Germany
Karsten Boldt, University of Tübingen, Germany

Session 3
Photoreceptor disk morphogenesis
Chair: Ching-Hwa Sung, Cornell University, United States
Robert R. Molday, University of British Columbia, Canada
Takahisa Furukawa, Osaka University, Japan
Jarema Malicki, Tufts University, USA
Vadim Y. Arshavsky, Duke University, USA
Ching-Hwa Sung, Cornell University, USA

Session 4
Non-syndromic retinal ciliopathies
Chair: Marius Ueffing, University of Tübingen, Germany
Eric A. Pierce, Harvard Medical School, USA
Joseph C. Besharse, Medical College of Wisconsin, USA
Alfred Wittinghofer, Max PIanck Institute of Molecular Physiology, Germany
Hemant Khanna, University of Massachusetts, USA

Session 5
Syndromic ciliopathies
Chair: Hemant Khanna,University of Massachusetts, United States
Gregory J. Pazour, University of Massachusetts Medical School, USA
Philip L. Beales, University College London, UK
Nicholas Katsanis, Duke University, USA
Daniel A. Doherty, University of Washington, USA
Uwe Wolfrum, Johannes Gutenberg University, Germany
Anand Swaroop, NEI, USA

Session 6
Ciliary systems biology
Chair: Ronald Roepman, Radboud University Nijmegen Medical Centre, The Netherlands
Peter Jackson, Genentech, USA
Rob Russell, Bioquant, Heidelberg University, Germany
Max V. Nachury, Stanford University, USA
Ronald Roepman, Radboud University Nijmegen Medical Centre, The Netherlands

Session 7
Animal models of retinal ciliopathies
Chair: Tiansen Li, NEI, United States
Guoxin Ying, University of Utah, USA
Jun Yang, University of Utah, USA
Shobi Veleri, NEI, USA
David Simons, Baylor College of Medicine, USA


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



Image credit: Drs. Jeanne Frederick, Ph.D., Carl Watt, Ph.D. and Bryan William Jones, Ph.D..

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