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

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo), submitted versio

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other ‘mainstream’ specialties now offering genetic testing), and scientists from regional genetics laboratories. While viewing recontacting as desirable under certain circumstances, most respondents expressed concerns about its feasibility within the current constraints of the National Health Service (NHS). The main barriers identified were insufficient resources (time, staff, and suitable IT infrastructures) and lack of clarity about role boundaries and responsibilities. All of these are further complicated by genetic testing being increasingly offered by mainstream specialties. Reaching a consensus about roles and responsibilities of clinical specialties with regard to recontacting former patients in the light of evolving genetic information, and about what resources and infrastructures would be needed, was generally seen as a pre-requisite to developing guidelines about recontact

Understanding policy integration in the EU—Insights from a multi-level lens on climate adaptation and the EU's coastal and marine policy

© 2017 Elsevier Ltd Integration of relatively new policy tasks like climate adaptation into established higher-level policy fields is insufficiently understood in the academic literature. This paper proposes a framework to evaluate the integration of climate adaptation into the sectoral policy-making of the European Commission, particularly following the publication of the EU Adaptation Strategy (in 2013). The paper uses a framework of micro, meso and macro-level institutional behaviour drawing strongly on new institutionalism perspectives to identify and explain factors enabling and hindering policy integration. It focuses on integration in the coastal and marine policy sector, which is expected to be particularly vulnerable to climate change impacts, and draws from data collected through a document review and interviews with key informants. The findings show that the integration of climate adaptation is still at an early stage. The integration process appears to be largely dependent on institutional dynamics at the EU-level combined with how member states and wider sectoral stakeholders engage with adaptation concerns. In particular, the ambivalence of some member states and a lack of urgency among sectoral stakeholders has hampered the integration of adaptation goals

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

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

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for lagging-strand DNA synthesis during DNA replication. It carries out this synthesis with high fidelity owing to its intrinsic 3'- to 5'-exonuclease activity, which confers proofreading ability. Missense mutations affecting the exonuclease domain of POLD1 have recently been shown to predispose to colorectal and endometrial cancers. Here we report a recurring heterozygous single-codon deletion in POLD1 affecting the polymerase active site that abolishes DNA polymerase activity but only mildly impairs 3'- to 5'-exonuclease activity. This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males. This discovery suggests that perturbing the function of the ubiquitously expressed POLD1 polymerase has unexpectedly tissue-specific effects in humans and argues for an important role for POLD1 function in adipose tissue homeostasis.This work was supported by NIHR Exeter Clinical Research Facility through funding for SE and ATH and general infrastructure. The authors thank Michael Day, Annet Damhuis and Richard Gilbert for technical assistance. We thank Karen Knapp for providing the data for the DEXA calculations. SE, ATH, SO are supported by Wellcome Weedon et al. Page 6 Nat Genet. Author manuscript; available in PMC 2014 February 01. Europe PMC Funders Author Manuscripts Europe PMC Funders Author Manuscripts Trust Senior Investigator awards. DS and RKS (098498/Z/12/Z) are supported by Wellcome Trust Senior Research Fellowships in Clinical Science. MNW is supported by the Wellcome Trust as part of the WT Biomedical Informatics Hub funding. RO is supported by Diabetes UK. DS, RKS and SO are supported by the UK National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre. KJG is supported by the Agency for Science, Technology and Research, Singapore (A*STAR). LAL and MJP are supported by grants NCI-61-6845 and 62-4860