Focus and Application Options

LIAISE Policy Brief No. 5 on "Scientific tools in Europe: focus and application options" has just been published. Policy Impact Assessment (IA) has been an obligatory procedure in the legislative process within the EU since 2002. It has to identify the likely impacts on sustainable development (specifically the social, environmental and economic impacts) of all major policy strategies and instruments prior to actual implementation. The link between IA and sustainable development is rooted in the 2006 renewed Sustainable Development Strategy. IA also provides the legal basis to feed scientific evidence into the policy process and to base policy-making on scientifically robust tools and results. In line with the recognition of the importance of IA for sound sustainable policies, the EC (DG Research and Innovation) has funded through the Framework Programmes (FP) 6 and 7 research supporting knowledge creation in this field. This policy brief presents an analysis of tools developed in the context of FP6 and FP7 undertaken by the LIAISE project. This assessment focused on the following interests of IA practitioners as tool users: Which policy area(s) do the tools address? Which impact area(s) are covered by the tools? Which jurisdictional level(s) can the tools be applied at? How can the tools be categorized? There exists a wide variety of tools that comprises: Quantitative and qualitative tools, such as models, scenarios, multi-criteria analysis and participatory tools, Tool components, such as indicators, databases and comprehensive analytic methods, Evaluation frameworks, toolboxes and platforms etc. serving as a higher level system for tool selection or tool linkage. These results are based on an analysis of 203 research projects designing tools for IA funded in FP6 and 7. The results shall contribute to addressing the science-policy interface of IA by identifying possible challenges for tool users and tool suppliers with respect to tool development and selection

Planning for Sustainability in Small Municipalities: The Influence of Interest Groups, Growth Patterns, and Institutional Characteristics

How and why small municipalities promote sustainability through planning efforts is poorly understood. We analyzed ordinances in 451 Maine municipalities and tested theories of policy adoption using regression analysis.We found that smaller communities do adopt programs that contribute to sustainability relevant to their scale and context. In line with the political market theory, we found that municipalities with strong environmental interests, higher growth, and more formal governments were more likely to adopt these policies. Consideration of context and capacity in planning for sustainability will help planners better identify and benefit from collaboration, training, and outreach opportunities

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. Methods We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. Results Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. Conclusions Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed

Modelling germ cell development in vitro

Germ cells have a critical role in mediating the generation of genetic diversity and transmitting this information across generations. Furthermore, gametogenesis is unique as a developmental process in that it generates highly-specialized haploid gametes from diploid precursor stem cells through meiosis. Despite the importance of this process, progress in elucidating the molecular mechanisms underpinning mammalian germ cell development has been retarded by the lack of an efficient and reproducible system of in vitro culture for the expansion and trans-meiotic differentiation of germline cells. The dearth of such a culture system has rendered the study of germ cell biology refractory to the application of new high-throughput technologies such as RNA interference, leaving in vivo gene-targeting approaches as the only option to determine the function of genes believed to be involved in gametogenesis. Recent reports detailing the derivation of gametes in vitro from stem cells may provide the first steps in developing new tools to solve this problem. This review considers the developments made in modelling germ cell development using stem cells, and some of the challenges that need to be overcome to make this a useful tool for studying gametogenesis and to realize any future clinical application

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessive forms. Seeking to describe the phenotypic characteristics of LZTR1-associated NS, we searched for likely pathogenic variants using two approaches. First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). One patient also had biallelic loss-of-function mutations in NEB, consistent with a composite phenotype. After removing this complex case, analysis of human phenotype ontology terms indicated significant phenotypic similarities (P = 0.0005), supporting a causal role for LZTR1. Second, targeted sequencing of eight unsolved NS-like cases identified biallelic LZTR1 variants in three further subjects (p.W469*/p.Y749C, p.W437*/c.-38T>A and p.A461D/p.I462T). Our study strengthens the association of LZTR1 with NS, with de novo mutations clustering around the KT1-4 domains. Although LZTR1 variants explain ~0.1% of cases across the DDD cohort, the gene is a relatively common cause of unsolved NS cases where recessive inheritance is suspected

Computational prediction of pressure change in the vicinity of tidal stream turbines and the consequences for fish survival rate

The presence of Tidal Stream Turbines (TST) for tidal power production, leads to changes in the local physical environment that could affect fish. While other work has considered the implications with respect to conventional hydroelectric devices (i.e. hydroelectric dams), including studies such as physical impact with the rotors and pressure variation effects, this research considers the effects of sudden changes in pressure and turbulence on the hypothetical fish with respect to TSTs. Computational fluid dynamics (CFD) is used to investigate changes to the environment, and thus study the implications for fish. Two CFD methods are employed, an embedded Blade Element representation of the rotor in a RANS CFD model, and a blade resolved geometry using a moving reference frame. A new data interpretation approach is proposed as the primary source of environmental impact data; ‘rate of change of pressure’ with time along a streamtrace. This work also presents results for pressure, pressure gradients, shear rates and turbulence to draw conclusions about changes to the local physical environment. The assessment of the local impact is discussed in terms of the implications to individual fish passing a single or array of TST devices