Climate Engineering Responses to Climate Emergencies

Despite efforts to stabilize CO_2 concentrations, it is possible that the climate system could respond abruptly with catastrophic consequences. Intentional intervention in the climate system to avoid or ameliorate such consequences has been proposed as one possible response, should such a scenario arise. In a one-week study, the authors of this report conducted a technical review and evaluation of proposed climate engineering concepts that might serve as a rapid palliative response to such climate emergency scenarios. Because of their potential to induce a prompt (less than one year) global cooling, this study concentrated on Shortwave Climate Engineering (SWCE) methods for moderately reducing the amount of shortwave solar radiation reaching the Earth. The study's main objective was to outline a decade-long agenda of technical research that would maximally reduce the uncertainty surrounding the benefits and risks associated with SWCE. For rigor of technical analysis, the study focused the research agenda on one particular SWCE concept--stratospheric aerosol injection--and in doing so developed several conceptual frameworks and methods valuable for assessing any SWCE proposal.Comment: 66 pp., 5 figs., published by Novim, Santa Barbara, Cal., revised referenc

A Rare Disease Patient Manager

ABSTRACT publicado: 6th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB. Salamanca, 28-30 Março 2012The personal health implications behind rare diseases are seldom considered in widespread medical care. The low incidence rate and complex treatment process makes rare disease research an underrated field in the life sciences. However, it is in these particular conditions that the strongest relations between genotypes and phenotypes are identified. The rare disease patient manager, detailed in this manuscript, presents an innovative perspective for a patient-centric portal integrating genetic and medical data. With this strategy, patient’s digital records are transparently integrated and connected to wet-lab genetics research in a seamless working environment. The resulting knowledge base offers multiple data views, geared towards medical staff, with patient treatment and monitoring data; genetics researchers, through a custom locus-specific database; and patients, who for once play an active role in their treatment and rare diseases research

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

Cancer, like many common disorders, has a complex etiology, often with a strong genetic component and with multiple environmental factors contributing to susceptibility. A considerable number of genomic variants have been previously reported to be causative of, or associated with, an increased risk for various types of cancer. Here, we adopted a next-generation sequencing approach in 11 members of two families of Greek descent to identify all genomic variants with the potential to predispose family members to cancer. Cross-comparison with data from the Human Gene Mutation Database identified a total of 571 variants, from which 47 % were disease-associated polymorphisms, 26 % disease-associated polymorphisms with additional supporting functional evidence, 19 % functional polymorphisms with in vitro/laboratory or in vivo supporting evidence but no known disease association, 4 % putative disease-causing mutations but with some residual doubt as to their pathological significance, and 3 % disease-causing mutations. Subsequent analysis, focused on the latter variant class most likely to be involved in cancer predisposition, revealed two variants of prime interest, namely MSH2 c.2732T>A (p.L911R) and BRCA1 c.2955delC, the first of which is novel. KMT2D c.13895delC and c.1940C>A variants are additionally reported as incidental findings. The next-generation sequencing-based family genomics approach described herein has the potential to be applied to other types of complex genetic disorder in order to identify variants of potential pathological significance

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases

A cost-of-illness analysis of β-Thalassaemia major in children in Sri Lanka - experience from a tertiary level teaching hospital

Background Sri Lanka has a high prevalence of β-thalassaemia major. Clinical management is complex and long-term and includes regular blood transfusion and iron chelation therapy. The economic burden of β-thalassaemia for the Sri Lankan healthcare system and households is currently unknown. Methods A prevalence-based, cost-of-illness study was conducted on the Thalassaemia Unit, Department of Paediatrics, Kandy Teaching Hospital, Sri Lanka. Data were collected from clinical records, consultations with the head of the blood bank and a consultant paediatrician directly involved with the care of patients, alongside structured interviews with families to gather data on the personal costs incurred such as those for travel. Results Thirty-four children aged 2–17 years with transfusion dependent thalassaemia major and their parent/guardian were included in the study. The total average cost per patient year to the hospital was $US 2601 of which$US 2092 were direct costs and $US 509 were overhead costs. Mean household expenditure was$US 206 per year with food and transport per transfusion ($US 7.57 and$US 4.26 respectively) being the highest cost items. Nine (26.5%) families experienced catastrophic levels of healthcare expenditure (> 10% of income) in the care of their affected child. The poorest households were the most likely to experience such levels of expenditure. Conclusions β-thalassaemia major poses a significant economic burden on health services and the families of affected children in Sri Lanka. Greater support is needed for the high proportion of families that suffer catastrophic out-of-pocket costs

Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)

The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić

A origem das parcerias público-privada na governança global da educação

Durante a última década, a globalização da governança educacional por meio de parcerias público-privadas (PPP) tem gerado considerável debate quanto ao seu significado, propósito, status e resultados. Este debate é particularmente aquecido no setor da educação por causa da ampla aceitação da educação como atividade complexa, social e política que deve permanecer, em grande parte, se não totalmente, no setor público, servindo a interesses públicos. O artigo analisa a rápida expansão das parcerias público-privadas em educação (PPPE) articulada à introdução de regras de mercado no setor. Neste estudo nos concentramos sobre o papel de uma rede de desenvolvimento global, fundamental na globalização de um tipo particular de PPPE, indicando que a ideia de PPP encaixa-se em um projeto mais amplo de reconstituição da educação pública no âmbito do setor de serviços, a ser governada como parte da construção de uma sociedade de mercado.Over the past decade, the globalization and governing of education through Public Private Partnerships (PPPs) have generated considerable debate as to their meaning, purpose, status and outcomes. This debate is particularly heated in the education sector because of the widely-held view that education is a complex social and political activity that should remain largely, if not wholly, in the public sector serving public interests. The article analyses the rapid expansion of Education Public Private Partnerships (EPPPs) and the associated introduction of market rules into the education sector. We focus on the role of a key global development network in globalizing a particular kind of ePPPs, and show that the EPPP idea fi ts into a wider project of reconstituting public education as an education services industry to be governed as part of the construction of a market society

A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics

Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In several European populations, particularly in countries with lower income, information related to the prevalence of pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented the microattribution approach to assess the pharmacogenomic biomarkers allelic spectrum in 18 European populations, mostly from developing European countries, by analyzing 1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulation pharmacogenomic biomarker allele frequency differences, particularly in 7 clinically actionable pharmacogenomic biomarkers in 7 European populations, affecting drug efficacy and/or toxicity of 51 medication treatment modalities. These data also reflect on the differences observed in the prevalence of high-risk genotypes in these populations, as far as common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMT pharmacogenes are concerned. Also, our data demonstrate notable differences in predicted genotype-based warfarin dosing among these populations. Our findings can be exploited not only to develop guidelines for medical prioritization, but most importantly to facilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomic testing. This may subsequently contribute towards significant cost-savings in the overall healthcare expenditure in the participating countries, where pharmacogenomics implementation proves to be cost-effective

Initial sequencing and analysis of the human genome

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/62798/1/409860a0.pd