Lasker/IRRF Report On Restoring Vision

Restoring Vision To The Blind

I participated in the Lasker/IRRF Initiative on Restoring Vision to the Blind in March 2014. It was a great session of research leaders working on various approaches to restore visual function lost by retinal degenerative disease. The purpose of the meeting was to identify the key issues hampering research progress and to develop innovative proposals to overcome these hurdles and accelerate research. The Initiative prepared a report of its findings that ARVO published as a special edition of its online journal Translation Vision Science and Technology. It can be viewed at http://tvstjournal.org/toc/tvst/3/7.

I am attaching the Table of Contents for the report, along with John Dowling’s introduction to give you an idea of the scope of the work discussed by participants.  If you want a pdf of the entire report, you can find it on the Lasker website at: http://www.laskerfoundation.org/programs/images/irrf_15.pdf . A print copy of the report is also available by writing to Meredith Graves as mgraves@laskerfoundation.org

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Notable Paper: Reproducibility in Science

Reproducability in Science

This article by C. Glenn Begley and John P.A. Ioannidis is not specifically vision related, but is more generally applicable to research integrity and is well worth a read, in particular the following paragraph:

“What has shaken many in the field is not that investigators are unable to precisely reproduce an experiment. That is to be expected. What is shocking is that in many cases, the big idea or major conclusion was not confirmed simply when experi- ments were performed by the same investigators when blinded to their test samples versus control samples.2 The explanation for this was evident when the precise methodology of the experiments was reviewed. Investigators typically performed their experiments in a nonblinded fashion, so they were able to see what they were anticipating to see, and their research bias was thus able to be confirmed.18 Observer bias has long been recognized to be a problem in preclinical studies and beyond, so this result should not be surprising.19 Confirmation bias in scientific investigation unavoidably makes even the best scientists prone to try to find results or interpretations that fit their preconceived ideas and theories.20,21”

 

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Seminar: Unraveling The Genetic Risk Spectrum of Age-related Macular Degeneration

Fritsche Flyer

Lars Fritsche from the Department of Biostatistics, School of Public Health, University of Michigan will be delivering a seminar on Unraveling The Genetic Risk Spectrum of Age-related Macular Degeneration on Wednesday, March 11th, 2015 in the Moran Eye Center auditorium.

Age-related macular degeneration (AMD) is one of the leading causes of blindness in elderly Americans. AMD is influenced by numerous factors, including smoking and diet, but the strongest underlying cause is genetic variation. Over the past several years, great strides have been made in our understanding of the genetic disease susceptibility. Common genetic variants in the complement pathway (near the CFH, C3, C2, CFB and CFI genes) and elsewhere (e.g. near ARMS2/HTRA1, TIMP3, LIPC, CETP, VEGFA) have been associated with disease risk. More recently, studies of rarer variants gradually started to identify rare variants with larger risk effects (e.g. in CFH, CFI, or C3).

In this talk I will present an overview and current results of: 1. the ExomeChip study of the International AMD Genomics Consortium, a collaborative effort that jointly genotyped and analyzed > 50,000 AMD cases and controls; and 2. the ongoing AMD Whole Genome Sequencing Study of the Universities of Michigan and Pennsylvania and the National Eye Institute that aims to sequence the genomes of ~6,000 AMD cases and controls. Moreover, I will show examples on how imputation approaches can improve power and increase resolution for the fine-mapping of known AMD susceptibility loci.

Seminar: How Inhibiting The Dimerization Of Vitamin A and/or Catalyzing The Reduction of Quinones May Prevent Retinal Degeneration

Ilyas W Flyer

Ilyas Washington from Columbia University Medical Center will be delivering a seminar on How Inhibiting The Dimerization Of Vitamin A and/or Catalyzing The Reduction of Quinones May Prevent Retinal Degeneration on Wednesday, February 11th, 2015 in the Moran Eye Center auditorium.

Abstract:  Many human conditions, originating from multiple genetic and environmental pressures, converge to overproduce superoxide radical anions. The bulk synthesis of cellular superoxides is believed to result from redox cycling of the quinone, coenzyme q. We have designed small molecules to control quinone redox cycling and correct superoxide fluxes as a means to prevent retinal degeneration.