Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

Bainbridge, J.W.B.; Sundaram, V.; Mehat, M.S.; Robbie, S.R.; Barker, S.E.; Ripamonti, C.; Georgiadis, A.; Mowat, F.M.; Gardner, P.J.; Feathers, K.L.; Luong, V.A.; Beattie, S.G.; Yzer, S.; Balaggan, K.; Viswanathan, A.; de Ravel, T.J.L.; Casteels, I.; Holder, G.; Tyler, N.; Fitzke, F; Weleber, R.G.; Nardini, M.; Moore, A.; Thompson, D.A.; Petersen-Jones, S.M.; Michaelides, M.; van den Born, L.I.; Stockman, A.; Smith, A.J.; Rubin, G.; Ali, R.R.

doi:10.1056/nejmoa1414221

The effect of blur on cortical responses to global form and motion (2015)
Journal Article
Burton, E., Wattam-Bell, J., Rubin, G., Atkinson, J., Braddick, O., & Nardini, M. (2015). The effect of blur on cortical responses to global form and motion. Journal of Vision, 15(15), 1-14. https://doi.org/10.1167/15.15.12

Global form and motion sensitivity undergo long development in childhood with motion sensitivity rather than form being impaired in a number of childhood disorders and both impaired in adult clinical populations. This suggests extended development an... Read More about The effect of blur on cortical responses to global form and motion.

Digital LED Pixels: Instructions for use and a characterization of their properties (2015)
Journal Article
Jones, P., Garcia, S., & Nardini, M. (2016). Digital LED Pixels: Instructions for use and a characterization of their properties. Behavior Research Methods, 48(4), 1266-1284. https://doi.org/10.3758/s13428-015-0653-5

This article details how to control light emitting diodes (LEDs) using an ordinary desktop computer. By combining digitally addressable LEDs with an off-the-shelf microcontroller (Arduino), multiple LEDs can be controlled independently and with a hig... Read More about Digital LED Pixels: Instructions for use and a characterization of their properties.

Late development of cue integration is linked to sensory fusion in cortex (2015)
Journal Article
Dekker, T., Ban, H., Van der Velde, B., Sereno, M., Welchman, A., & Nardini, M. (2015). Late development of cue integration is linked to sensory fusion in cortex. Current Biology, 25(21), 2856-2861. https://doi.org/10.1016/j.cub.2015.09.043

Adults optimize perceptual judgements by integrating different types of sensory information [ 1, 2 ]. This engages specialized neural circuits that fuse signals from the same [ 3–5 ] or different [ 6 ] modalities. Whereas young children can use senso... Read More about Late development of cue integration is linked to sensory fusion in cortex.

Optimizing the rapid measurement of detection thresholds in infants (2015)
Journal Article
Jones, P., Kalwarowsky, S., Braddick, O., Atkinson, J., & Nardini, M. (2015). Optimizing the rapid measurement of detection thresholds in infants. Journal of Vision, 15(11), 1-17. https://doi.org/10.1167/15.11.2

Accurate measures of perceptual threshold are difficult to obtain in infants. In a clinical context, the challenges are particularly acute because the methods must yield meaningful results quickly and within a single individual. The present work cons... Read More about Optimizing the rapid measurement of detection thresholds in infants.

Hearing where the eyes see: children use an irrelevant visual cue when localising sound (2015)
Journal Article
Petrini, K., Jones, P., Smith, L., & Nardini, M. (2015). Hearing where the eyes see: children use an irrelevant visual cue when localising sound. Child Development, 86(5), 1449-1457. https://doi.org/10.1111/cdev.12397

To reduce sensory uncertainty, humans combine cues from multiple senses. However, in everyday life, many co-occurring cues are irrelevant to the task at hand. How do humans know which cues to ignore? And does this ability change with development? Thi... Read More about Hearing where the eyes see: children use an irrelevant visual cue when localising sound.

Visual and non-visual navigation in blind patients with a retinal prosthesis (2015)
Journal Article
Garcia, S., Petrini, K., Rubin, G., Da Cruz, L., & Nardini, M. (2015). Visual and non-visual navigation in blind patients with a retinal prosthesis. PLoS ONE, 10(7), Article e0134369. https://doi.org/10.1371/journal.pone.0134369

Human adults with normal vision can combine visual landmark and non-visual self-motion cues to improve their navigational precision. Here we asked whether blind individuals treated with a retinal prosthesis could also benefit from using the resultant... Read More about Visual and non-visual navigation in blind patients with a retinal prosthesis.

Integration of audio-visual information for spatial decisions in children and adults (2015)
Journal Article
Nardini, M., Bales, J., & Mareschal, D. (2016). Integration of audio-visual information for spatial decisions in children and adults. Developmental Science, 19(5), 803-816. https://doi.org/10.1111/desc.12327

In adults, decisions based on multisensory information can be faster and/or more accurate than those relying on a single sense. However, this finding varies significantly across development. Here we studied speeded responding to audio-visual targets,... Read More about Integration of audio-visual information for spatial decisions in children and adults.

Risky visuomotor choices during rapid reaching in childhood (2015)
Journal Article
Dekker, T., & Nardini, M. (2016). Risky visuomotor choices during rapid reaching in childhood. Developmental Science, 19(3), 427-439. https://doi.org/10.1111/desc.12322

Many everyday actions are implicit gambles because imprecisions in our visuomotor systems place probabilities on our success or failure. Choosing optimal action strategies involves weighting the costs and gains of potential outcomes by their correspo... Read More about Risky visuomotor choices during rapid reaching in childhood.

Four-year-olds use a mixture of spatial reference frames (2015)
Journal Article
Negen, J., & Nardini, M. (2015). Four-year-olds use a mixture of spatial reference frames. PLoS ONE, 10(7), https://doi.org/10.1371/journal.pone.0131984

Keeping track of unseen objects is an important spatial skill. In order to do this, people must situate the object in terms of different frames of reference, including body position (egocentric frame of reference), landmarks in the surrounding enviro... Read More about Four-year-olds use a mixture of spatial reference frames.

Flexible integration of visual cues in adolescents with autism spectrum disorder (2015)
Journal Article
Bedford, R., Pellicano, E., Mareschal, D., & Nardini, M. (2016). Flexible integration of visual cues in adolescents with autism spectrum disorder. Autism Research, 9(2), 272-281. https://doi.org/10.1002/aur.1509

Although children with autism spectrum disorder (ASD) show atypical sensory processing, evidence for impaired integration of multisensory information has been mixed. In this study, we took a Bayesian model-based approach to assess within-modality int... Read More about Flexible integration of visual cues in adolescents with autism spectrum disorder.

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis (2015)
Journal Article
Bainbridge, J., Sundaram, V., Mehat, M., Robbie, S., Barker, S., Ripamonti, C., …Ali, R. (2015). Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis. New England Journal of Medicine, 372(20), 1887-1897. https://doi.org/10.1056/nejmoa1414221

BACKGROUND Mutations in RPE65 cause Leber’s congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. Gene therapy can result in modest improvements in night vision, but knowledge of its efficacy in hum... Read More about Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis.

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