A plasma display window?-The shifting baseline problem in a technologically mediated natural world

Humans will continue to adapt to an increasingly technological world. But are there costs to such adaptations in terms of human well being? Toward broaching this question, we investigated physiological effects of experiencing a HDTV quality real-time view of nature through a plasma display “window.” In an office setting, 90 participants (30 per group) were exposed either to (a) a glass window that afforded a view of a nature scene, (b) a plasma window that afforded a real-time HDTV view of essentially the same scene, or (c) a blank wall. Results showed that in terms of heart rate recovery from low-level stress the glass window was more restorative than a blank wall; in turn, a plasma window was no more restorative than a blank wall. Moreover, when participants spent more time looking at the glass window, their heart rate tended to decrease more rapidly; that was not the case with the plasma window. Discussion focuses on how the purported benefits of viewing nature may be attenuated by a digital medium.     

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.