The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium-risk pregnancies identified by serum screening and/or ultrasound scanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single-gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour-intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single-gene disorders, and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here, we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders. © 2013 John Wiley & Sons, Ltd.     

Understanding complex drivers of wildlife crime to design effective conservation interventions

In conservation understanding the drivers of behavior and developing robust interventions to promote behavioral change is challenging and requires a multifaceted approach. This is particularly true for efforts to address illegal wildlife use, where pervasive—and sometimes simplistic—narratives often obscure complex realities. We used an indirect questioning approach, the unmatched count technique, to investigate the drivers and prevalence of wildlife crime in communities surrounding 2 national parks in Uganda and combined scenario interviews and a choice experiment to predict the performance of potential interventions designed to tackle these crimes. Although poverty is often assumed to be a key driver of wildlife crime, we found that better-off households and those subject to human–wildlife conflict and those that do not receive any benefits from the parks’ tourism revenue sharing were more likely to be involved in certain types of wildlife crime, especially illegal hunting. The interventions predicted to have the greatest impact on reducing local participation in wildlife crime were those that directly addressed the drivers including, mitigating damage caused by wildlife and generating financial benefits for park-adjacent households. Our triangulated approach provided insights into complex and hard-to-access behaviors and highlighted the importance of going beyond single-driver narratives.     

Parentally biased favouritism in relation to offspring sex in zebra finches

Family conflicts over parental care result in offspring attempting to exert control using solicitation behaviours, whilst the parents are potentially able to retaliate through provisioning rules. However, the evolutionary interests of one parent may not necessarily support the evolutionary interests of the other parent, and such conflicts of interest may be expressed in how the two parents allocate the same form of parental care to individual offspring. Theory suggests that such parentally biased favouritism is a universally predicted outcome of evolutionary conflicts of interest, and empirical evidence suggests that parentally biased favouritism occurs in relation to offspring size and solicitation behaviours. However, unequivocal empirical evidence of parentally biased favouritism in relation to offspring sex is absent, due to being strongly confounded by sex differences in size and solicitation behaviours. Here, we present strong evidence for parentally biased favouritism in relation to offspring sex in zebra finches (Taeniopygia guttata), independent of the effects of chick size and begging intensity. Mothers preferentially provisioned sons over daughters, whilst fathers showed no bias, meaning that sons received more food than daughters. Parentally biased favouritism in relation to offspring sex facilitates parental control over evolutionary conflicts of interest and is probably more widespread than previously realised.     

Directional selection by fisheries and the timing of sockeye salmon (Oncorhynchus nerka) migrations.

The timing of migration from feeding to breeding areas is a critical link between the growth and survival of adult animals, their reproduction, and the fitness of their progeny. Commercial fisheries often catch a large fraction of the migrants (e.g., salmon), and exploitation rates can vary systematically over the fishing season. We examined daily records of sockeye salmon (Oncorhynchus nerka) in the Egegik and Ugashik management districts in Bristol Bay, Alaska (USA), for evidence of such temporally selective fishing. In recent years, the early migrants have experienced lower fishing rates than later migrants, especially in the Egegik district, and the median migration date of the fish escaping the fisheries has been getting progressively earlier in both districts. Moreover, the overall runs (catch and escapement) in the Egegik district and, to a lesser extent the Ugashik district, have been getting earlier, as predicted in response to the selection on timing. The trends in timing were not correlated with sea surface temperature in the region of the North Pacific Ocean where the salmon tend to concentrate, but the trends in the two districts were correlated with each other, indicating that there may be some common environmental influence in addition to the effect of selection. Despite the selection, both groups of salmon have remained productive. We hypothesize that this resilience may result from representation of all component populations among the early and late migrants, so that the fisheries have not eliminated entire populations, and from density-dependent processes that may have helped maintain the productivity of these salmon populations.     

Theorising pathways to sustainability

Using a Pathways approach, controversies over environmental and natural resource management are viewed as expressions of alternative, or competing, pathways to sustainability. This supports deeper understanding of the underlying causes of natural resource management controversies. The framework is composed of two elements: the STEPS (Social, Technological, and Environmental Pathways to Sustainability) Pathways approach and frame analysis. Many sustainable development dilemmas are played out in specific places and consequently, the Pathways approach is integrated with a place-based frame analysis. The resulting framework guides empirical investigation in place-based contexts. This theorising about sustainability science can be used to cast light on contested natural resource management issues, in this case mining in northern Sweden. By exposing the range of alternative Pathways to critical norms of sustainable development, we ascertain whether action alternatives are compatible with sustainable futures. The framework provides a way in which sustainability science can better understand the origins of natural resource management conflicts, characterise the positions of the actors involved, identify the potential for cooperation between stakeholders leading to policy resolution and judge what Pathways help or hinder the pursuit of sustainable development. In addition, it can enhance sustainability science by guiding integrative sustainability research at the project scale.     

Foraging habitats and migration corridors utilized by a recovering subpopulation of adult female loggerhead sea turtles: implications for conservation

From 1998 to 2008, 68 adult female loggerhead sea turtles (Caretta caretta) were instrumented with platform transmitter terminals at nesting beaches in Georgia, North Carolina (NC) and South Carolina (SC) on the East Coast of the United States of America (30°48′N, 81°28′W to 33°51′N, 77°59′W). The majority of post-nesting loggerheads (N = 42, 62 %) migrated to foraging habitats in the Mid-Atlantic Bight during May–October, with a subsequent migration occurring during November–March to foraging habitats south of Cape Hatteras, NC. Nine (13 %) loggerheads initially foraged in the near-shore, coastal areas of the South Atlantic Bight, but moved to offshore habitats—closer to the Gulf Stream—during November–March, while fourteen (21 %) loggerheads remained in foraging areas along the mid-continental shelf off of the eastern coast of Florida and/or continued southward to Florida Bay and the Bahamas. The present study delineates important, post-nesting foraging habitats and migration corridors where loggerheads may interact with commercial fisheries—providing managers opportunities to develop and implement optimally effective conservation actions for the recovery of this threatened species.     

Inconsistent definitions of "urban" result in different conclusions about the size of urban carbon and nitrogen stocks

There is conflicting evidence about the importance of urban soils and vegetation in regional C budgets that is caused, in part, by inconsistent definitions of "urban" land use. We quantified urban ecosystem contributions to C stocks in the Boston (Massachusetts, USA) Metropolitan Statistical Area (MSA) using several alternative urban definitions. Development altered aboveground and belowground C and N stocks, and the sign and magnitude of these changes varied by land use and development intensity. Aboveground biomass (live trees, dbh > or = 5 cm) for the MSA was 7.2 +/- 0.4 kg C/m2 (mean +/- SE), reflecting a high proportion of forest cover. Vegetation C was highest in forest (11.6 +/- 0.5 kg C/m2), followed by residential (4.6 +/- 0.5 kg C/m2), and then other developed (2.0 +/- 0.4 kg C/m2) land uses. Soil C (0-10 cm depth) followed the same pattern of decreasing C concentration from forest, to residential, to other developed land uses (4.1 +/- 0.1, 4.0 +/- 0.2, and 3.3 +/- 0.2 kg C/m2, respectively). Within a land use type, urban areas (which we defined as > 25% impervious surface area [ISA] within a 1-km(2) moving window) generally contained less vegetation C, but slightly more soil C, than nonurban areas. Soil N concentrations were higher in urban areas than nonurban areas of the same land use type, except for residential areas, which had similarly high soil N concentrations. When we compared our definition of urban to other commonly used urban extents (U.S. Census Bureau, Global Rural-Urban Mapping Project [GRUMP], and the MSA itself), we found that urban soil (1 m depth) and vegetation C stocks spanned a wide range, from 14.4 +/- 0.8 to 54.5 +/- 3.4 Tg C and from 4.2 +/- 0.4 to 27.3 +/- 3.2 Tg C, respectively. Conclusions about the importance of urban soils and vegetation to regional C and N stocks are very sensitive to the definition of urban used by the investigators. Urban areas, regardless of definition, are rapidly expanding in their extent; a systematic understanding of how our development patterns influence ecosystems is necessary to inform future development choices.     

Diagnostic indicators of elevated nitrogen deposition

Tissue N content of mosses, which has been shown to be an indicator of enhanced N, was studied at a range of locations dominated either by wet or dry deposited and oxidised and reduced forms of N. Tissue N responded differently to wet and dry deposited N. For a 1 kg ha(-1) y(-1) increase in N deposition, tissue N increased by 0.01% at wet deposition sites but by 0.03% at sites dominated by dry deposited NH3. Tissue N at wet deposition sites responded more to concentrations of NO3- and NH4+ in precipitation (r(2) 0.63) than to total N deposition (r(2) 0.27), concentration explaining 66% of the variation in tissue N, wet deposition 33%. The study clearly concludes that tissue N concentration in mosses provides a good indication of N deposition at sites where deposition is dominated by NH3, and is also valuable in identifying vegetation exposed to large concentrations of NH4+ or NO3-, in wet deposition dominated areas, such as hilltops and wind exposed woodland edges.