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

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia

Despite recent progress in acute lymphoblastic leukemia (ALL) therapies, a significant subset of adult and pediatric ALL patients has a dismal prognosis. Better understanding of leukemogenesis and recognition of germline genetic changes may provide new tools for treating patients. Given that hematopoietic stem cell transplantation, often from a family member, is a major form of treatment in ALL, acknowledging the possibility of hereditary predisposition is of special importance. Reports of comprehensive germline analyses performed in adult ALL patients are scarce. Aiming at fulfilling this gap of knowledge, we investigated variants in 93 genes predisposing to hematologic malignancies and 70 other cancer-predisposing genes from exome data obtained from 61 adult and 87 pediatric ALL patients. Our results show that pathogenic (P) or likely pathogenic (LP) germline variants in genes associated with predisposition to ALL or other cancers are prevalent in ALL patients: 8% of adults and 11% of children. Comparison of P/LP germline variants in patients to population-matched controls (gnomAD Finns) revealed a 2.6-fold enrichment in ALL cases (CI 95% 1.5-4.2, p = 0.00071). Acknowledging inherited factors is crucial, especially when considering hematopoietic stem cell transplantation and planning post-therapy follow-up. Harmful germline variants may also predispose patients to excessive toxicity potentially compromising the outcome. We propose integrating germline genetics into precise ALL patient care and providing families genetic counseling.Peer reviewe

Fiber Supplements Derived From Sugarcane Stem, Wheat Dextrin and Psyllium Husk Have Different In Vitro Effects on the Human Gut Microbiota

There is growing public interest in the use of fiber supplements as a way of increasing dietary fiber intake and potentially improving the gut microbiota composition and digestive health. However, currently there is limited research into the effects of commercially available fiber supplements on the gut microbiota. Here we used an in vitro human digestive and gut microbiota model system to investigate the effect of three commercial fiber products; NutriKane™, Benefiber® and Psyllium husk (Macro) on the adult gut microbiota. The 16S rRNA gene amplicon sequencing results showed dramatic fiber-dependent changes in the gut microbiota structure and composition. Specific bacterial OTUs within the families Bacteroidaceae, Porphyromonadaceae, Ruminococcaceae, Lachnospiraceae, and Bifidobacteriaceae showed an increase in the relative abundances in the presence of one or more fiber product(s), while Enterobacteriaceae and Pseudomonadaceae showed a reduction in the relative abundances upon addition of all fiber treatments compared to the no added fiber control. Fiber-specific increases in SCFA concentrations showed correlation with the relative abundance of potential SCFA-producing gut bacteria. The chemical composition, antioxidant potential and polyphenolic content profiles of each fiber product were determined and found to be highly variable. Observed product-specific variations could be linked to differences in the chemical composition of the fiber products. The general nature of the fiber-dependent impact was relatively consistent across the individuals, which may demonstrate the potential of the products to alter the gut microbiota in a similar, and predictable direction, despite variability in the starting composition of the individual gut microbiota

Truncating <em>NFKB1 </em>variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis

\ua9 2024 The AuthorsIn monogenic autoinflammatory diseases, mutations in genes regulating innate immune responses often lead to uncontrolled activation of inflammasome pathways or the type I interferon (IFN-I) response. We describe a mechanism of autoinflammation potentially predisposing patients to life-threatening necrotizing soft tissue inflammation. Six unrelated families are identified in which affected members present with necrotizing fasciitis or severe soft tissue inflammations. Exome sequencing reveals truncating monoallelic loss-of-function variants of nuclear factor κ light-chain enhancer of activated B cells (NFKB1) in affected patients. In patients’ macrophages and in NFKB1-variant-bearing THP-1 cells, activation increases both interleukin (IL)-1β secretion and IFN-I signaling. Truncation of NF-κB1 impairs autophagy, accompanied by the accumulation of reactive oxygen species and reduced degradation of inflammasome receptor nucleotide-binding oligomerization domain, leucine-rich repeat-containing protein 3 (NLRP3), and Toll/IL-1 receptor domain-containing adaptor protein inducing IFN-β (TRIF), thus leading to combined excessive inflammasome and IFN-I activity. Many of the patients respond to anti-inflammatory treatment, and targeting IL-1β and/or IFN-I signaling could represent a therapeutic approach for these patients

Proteomics of industrial fungi: trends and insights for biotechnology

Filamentous fungi are widely known for their industrial applications, namely, the production of food-processing enzymes and metabolites such as antibiotics and organic acids. In the past decade, the full genome sequencing of filamentous fungi increased the potential to predict encoded proteins enormously, namely, hydrolytic enzymes or proteins involved in the biosynthesis of metabolites of interest. The integration of genome sequence information with possible phenotypes requires, however, the knowledge of all the proteins in the cell in a system-wise manner, given by proteomics. This review summarises the progress of proteomics and its importance for the study of biotechnological processes in filamentous fungi. A major step forward in proteomics was to couple protein separation with high-resolution mass spectrometry, allowing accurate protein quantification. Despite the fact that most fungal proteomic studies have been focused on proteins from mycelial extracts, many proteins are related to processes which are compartmentalised in the fungal cell, e.g. β-lactam antibiotic production in the microbody. For the study of such processes, a targeted approach is required, e.g. by organelle proteomics. Typical workflows for sample preparation in fungal organelle proteomics are discussed, including homogenisation and sub-cellular fractionation. Finally, examples are presented of fungal organelle proteomic studies, which have enlarged the knowledge on areas of interest to biotechnology, such as protein secretion, energy production or antibiotic biosynthesis

Lessons from biomass planning at national and regional level in the EU

Abstract: Action plans are an important tool for meeting the EU renewable energy targets. Planning of biomass at national level has recently shifted from biomass action plans to renewable energy action plans; the latter still assigning special attention to biomass. A number of regions have also developed or are developing biomass plans. However, even though such plans are to assist the delivery of bioenergy development, the processes leading to successful implementation are not well documented. Little is known of the roles and function of these plans. This paper examines factors underlying plans and draws lessons from the planning processes that appear to support successful bioenergy development. The work presents views of actors involved in biomass planning in eleven countries and nine regions in Europe with an analytical framework employed to condense and present interview content. The analysis shows that while planning processes at both national and regional levels have encountered barriers – most of them common to policy implementation in general, but some specifi c to bioenergy policy – the national level appears to have better dealt with such barriers. Stakeholder commitment, continuity of policy, and fl exibility of planning guidelines and processes were found as some of the keys to successful implementation. While biomass plans were demonstrated to serve several roles, approaches looking beyond energy use are still limited. The work concludes that coordination of planning between jurisdictional levels needs to be strengthened and regional stimuli recognized at higher levels in order for biomass policy and planning to better achieve goals. © 2012 Society of Chemical Industry and John Wiley & Sons, LtdJRC.F.7-Renewable Energ