Evolution and innovation in guardianship laws: Assisted decision-making

Guardianship laws in most Western societies provide decision-making mechanisms for adults with impaired capacity. Since the inception of these laws, the principle of autonomy and recognition of human rights for those coming within guardianship regimes has gained prominence. A new legal model has emerged, which seeks to incorporate ‘assisted decision-making’ models into guardianship laws. Such models legally recognise that an adult’s capacity may be maintained through assistance or support provided by another person, and provide formal recognition of the person in that ‘assisting’ role. This article situates this latest legal innovation within a historical context, examining the social and legal evolution of guardianship laws and determining whether modern assisted decision-making models remain consistent with guardianship reform thus far. It identifies and critically analyses the different assisted decision-making models which exist internationally. Finally, it discusses a number of conceptual, legal and practical concerns that remain unresolved. These issues require serious consideration before assisted decisionmaking models are adopted in guardianship regimes in Australia.

Developing research skills for civil engineers: A library contribution

A course-integrated programme of library instruction has been developed for the School of Civil Engineering at the Queensland University of Technology, Australia; library instruction being one of the means selected to improve the research efforts of fourth year project students. The programme has been developed through consultation between the Civil Engineering Research Project Coordinator and the Civil Engineering Reference Librarian. Its aims are derived from those established for the fourth year research projects. Attention is focussed on the nature of the programme and the impact of instruction on fourth year research project students. Students who had received extended library instruction were compared with students from the previous year. Evidence suggests that the instruction has improved the information seeking behaviour of the students and their literature reviews.

Phenomenography in the Centre for Information Technology Innovation (CITI)

Phenomenography has its roots in educational research (Marton and Booth, 1997), but has since been adopted in other domains including business (Sandberg, 1994), health (Barnard, McCosker and Gerber, 1999), information science (Bruce, 1999a,b) and information technology (Bruce and Pham, 2001) as well as information systems. Emerging phenomenographic research in areas other than education, has been interdisciplinary, often bringing together technology, education and a host discipline such as health or business. In Australia, phenomenography has been used in information technology (IT) related research primarily in Victoria and Queensland. These studies have pursued the latter two of three established lines of phenomenographic research: 1) the study of conceptions of learning; 2) the study of conceptions in specific disciplines of study and 3) the study of how people conceive of various aspects of their everyday world that have not, for them, been the object of formal studies (Marton 1988, p.189). Information Technology researchers have predominantly pursued the latter two lines of research.

Open Access and Scholarly Books: Workshop Report, 19 June 2013

On 19 June 2013 Knowledge Unlatched and the Berkman Center for Internet and Society at Harvard Law School jointly convened a one-day workshop titled Open Access and Scholarly Books in Cambridge, MA. The workshop brought together a group of 21 invited publishers, librarians, academics and Open Access innovators to discuss the challenge of making scholarly books Open Access. This report captures discussions that took place on the day.

An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12

Migraine is a common and debilitating neurovascular disorder with a complex envirogenomic aetiology. Numerous studies have demonstrated a preponderance of women affected with migraine and previous pedigree linkage studies in our laboratory have identified susceptibility loci on chromosome Xq24-Xq28. In this study we have used the genetic isolate of Norfolk Island to further analyse the X chromosome for migraine susceptibility loci. An association approach was employed to analyse 14,124 SNPs spanning the entire X chromosome. Genotype data from 288 individuals comprising a large core-pedigree, of which 76 were affected with migraine, were analysed. Although no SNP reached chromosome-wide significance (empirical α = 1×10−5) ranking by P-value revealed two primary clusters of SNPs in the top 25. A 10 SNP cluster represents a novel migraine susceptibility locus at Xq12 whilst a 11 SNP cluster represents a previously identified migraine susceptibility locus at Xq27. The strongest association at Xq12 was seen for rs599958 (OR = 1.75, P = 8.92×10−4), whilst at Xq27 the strongest association was for rs6525667 (OR = 1.53, P = 1.65×10−4). Further analysis of SNPs at these loci was performed in 5,122 migraineurs from the Women’s Genome Health Study and provided additional evidence for association at the novel Xq12 locus (P<0.05). Overall, this study provides evidence for a novel migraine susceptibility locus on Xq12. The strongest effect SNP (rs102834, joint P = 1.63×10−5) is located within the 5′UTR of the HEPH gene, which is involved in iron homeostasis in the brain and may represent a novel pathway for involvement in migraine pathogenesis.

Complete mitochondrial genome sequencing reveals novel haplotypes in a Polynesian population

The high risk of metabolic disease traits in Polynesians may be partly explained by elevated prevalence of genetic variants involved in energy metabolism. The genetics of Polynesian populations has been shaped by island hoping migration events which have possibly favoured thrifty genes. The aim of this study was to sequence the mitochondrial genome in a group of Maoris in an effort to characterise genome variation in this Polynesian population for use in future disease association studies. We sequenced the complete mitochondrial genomes of 20 non-admixed Maori subjects using Affymetrix technology. DNA diversity analyses showed the Maori group exhibited reduced mitochondrial genome diversity compared to other worldwide populations, which is consistent with historical bottleneck and founder effects. Global phylogenetic analysis positioned these Maori subjects specifically within mitochondrial haplogroup - B4a1a1. Interestingly, we identified several novel variants that collectively form new and unique Maori motifs – B4a1a1c, B4a1a1a3 and B4a1a1a5. Compared to ancestral populations we observed an increased frequency of non-synonymous coding variants of several mitochondrial genes in the Maori group, which may be a result of positive selection and/or genetic drift effects. In conclusion, this study reports the first complete mitochondrial genome sequence data for a Maori population. Overall, these new data reveal novel mitochondrial genome signatures in this Polynesian population and enhance the phylogenetic picture of maternal ancestry in Oceania. The increased frequency of several mitochondrial coding variants makes them good candidates for future studies aimed at assessment of metabolic disease risk in Polynesian populations.

Investigation of Association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4

Patent foramen ovale (PFO) is associated with clinical conditions including cryptogenic stroke, migraine and varicose veins. Data from studies in humans and mouse suggest that PFO and the secundum form of atrial septal defect (ASDII) exist in an anatomical continuum of septal dysmorphogenesis with a common genetic basis. Mutations in multiple members of the evolutionarily conserved cardiac transcription factor network, including GATA4, cause or predispose to ASDII and PFO. Here, we assessed whether the most prevalent variant of the GATA4 gene, S377G, was significantly associated with PFO or ASD. Our analysis of world indigenous populations showed that GATA4 S377G was largely Caucasian-specific, and so subjects were restricted to those of Caucasian descent. To select for patients with larger PFO, we limited our analysis to those with cryptogenic stroke in which PFO was a subsequent finding. In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). However, in a follow up study of German Caucasians no association was found with either PFO or ASD. Analysis of combined Australian and German data confirmed the lack of a significant association. Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke.

A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis

We conducted an association study across the human leukocyte antigen (HLA) complex to identify loci associated with multiple sclerosis (MS). Comparing 1927 SNPs in 1618 MS cases and 3413 controls of European ancestry, we identified seven SNPs that were independently associated with MS conditional on the others (each ). All associations were significant in an independent replication cohort of 2212 cases and 2251 controls () and were highly significant in the combined dataset (). The associated SNPs included proxies for HLA-DRB1*15:01 and HLA-DRB1*03:01, and SNPs in moderate linkage disequilibrium (LD) with HLA-A*02:01, HLA-DRB1*04:01 and HLA-DRB1*13:03. We also found a strong association with rs9277535 in the class II gene HLA-DPB1 (discovery set , replication set , combined ). HLA-DPB1 is located centromeric of the more commonly typed class II genes HLA-DRB1, -DQA1 and -DQB1. It is separated from these genes by a recombination hotspot, and the association is not affected by conditioning on genotypes at DRB1, DQA1 and DQB1. Hence rs9277535 represents an independent MS-susceptibility locus of genome-wide significance. It is correlated with the HLA-DPB1*03:01 allele, which has been implicated previously in MS in smaller studies. Further genotyping in large datasets is required to confirm and resolve this association.

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13–14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

Outcomes of the Chemistry Discipline Network Mapping Exercises: Are the Threshold Learning Outcomes met?

The Chemistry Discipline Network has recently completed two distinct mapping exercises. The first is a snapshot of chemistry taught at 12 institutions around Australia in 2011. There were many similarities but also important differences in the content taught and assessed at different institutions. There were also significant differences in delivery, particularly laboratory contact hours, as well as forms and weightings of assessment. The second mapping exercise mapped the chemistry degrees at three institutions to the Threshold Learning Outcomes for chemistry. Importantly, some of the TLOs were addressed by multiple units at all institutions, while others were not met, or were met at an introductory level only. The exercise also exposed some challenges in using the TLOs as currently written.

Use of an on-line student response system : an analysis of adoption and continuance

The goal of this project was to initiate the use of an internet-based student response system in a large, first year chemistry class at a typical Australian university, and to verify its popularity and utility. A secondary goal was to influence other academic staff to adopt the system, initiating change at the discipline and Faculty level. The first goal was achieved with a high response rate using a commercial on-line system; however, the number of students engaging with the system dropped gradually during each class and over the course of the semester. Factors affecting student and staff adoption and continuance with technology are explored using established models.

Differential gene expression in breast cancer cell lines and stroma-tumor differences in microdissected breast cancer biopsies revealed by display array analysis

To examine gene-expression patterning in late-stage breast cancer biopsies, we used a microdissection technique to separate tumor from the surrounding breast tissue or stroma. A DD-PCR protocol was then used to amplify expressed products, which were resolved using PAGE and used as probe to hybridize with representative human arrays and cDNA libraries. The probe derived from the tumor–stroma comparison was hybridized with a gene array and an arrayed cDNA library derived from a GCT of bone; 21 known genes or expressed sequence tags were detected, of which 17 showed differential expression. These included factors associated with epithelial to mesenchymal transition (vimentin), the cargo selection protein (TIP47) and the signal transducer and activator of transcription (STAT3). Northern blot analysis was used to confirm those genes also expressed by representative breast cancer cell lines. Notably, 6 genes of unknown function were restricted to tumor while the majority of stroma-associated genes were known. When applied to transformed breast cancer cell lines (MDA-MB-435 and T47D) that are known to have different metastatic potential, DD array analysis revealed a further 20 genes; 17 of these genes showed differential expression. Use of microdissection and the DD-PCR array protocol allowed us to identify factors whose localized expression within the breast may play a role in abnormal breast development or breast carcinogenesis.

BoP and MNCs: where is the market and where the source of innovation?

ln 2004 Prahalad made managers aware of the great economic opportunity that the population at the BoP (Base of the Pyramid) could represent for business in the tom of new potential consumers. However, MNCs (Multi-National Corporations) have continued to fail in penetrating low income markets, arguably because applied strategies are often the same adopted at the top of the pyramid. Even in those few cases where products get re-envisioned, theie introduction in contexts of extreme poverty only induces new needs and develops new dependencies. At best the rearrangement of business models by MNCs has meant the realization of CSR (Corporate Social Responsibly) schemes that have validity from a marketing perspective, but still lack the crucial element of social embeddedness (London & Hart, 2004). Today the challenge is lo reach the lowest population tier with reinvented business models based on principles of value co-creation. Starting from a view of the potential consumer at the BoP as a ring of continuity in the value chain process – a resource that can itself produce value - this paper concludes proposing an alternative innovative approach to operate in developing markets that overturns the roles of MNCs and the BoP. The proposed perspective of ‘reversed' source of innovation and primary target market builds on two fundamental tenets: traditional knowledge is rich and greatly unexploded, and markets at the lop of the pyramid are saturated with unnecessary products / practices that have lost contact with the natural environment.

BoP and MNCs: where is the market and where the source of innovation?

ln 2004 Prahalad made managers aware of the great economic opportunity that the population at the BoP (Base of the Pyramid) could represent for business in the tom of new potential consumers. However, MNCs (Multi-National Corporations) have continued to fail in penetrating low income markets, arguably because applied strategies are often the same adopted at the top of the pyramid. Even in those few cases where products get re-envisioned, theie introduction in contexts of extreme poverty only induces new needs and develops new dependencies. At best the rearrangement of business models by MNCs has meant the realization of CSR (Corporate Social Responsibly) schemes that have validity from a marketing perspective, but still lack the crucial element of social embeddedness (London & Hart, 2004). Today the challenge is lo reach the lowest population tier with reinvented business models based on principles of value co-creation. Starting from a view of the potential consumer at the BoP as a ring of continuity in the value chain process – a resource that can itself produce value - this paper concludes proposing an alternative innovative approach to operate in developing markets that overturns the roles of MNCs and the BoP. The proposed perspective of ‘reversed' source of innovation and primary target market builds on two fundamental tenets: traditional knowledge is rich and greatly unexploded, and markets at the lop of the pyramid are saturated with unnecessary products / practices that have lost contact with the natural environment.

The embodied hybrid space : designing social and digital interventions to facilitate connected learning in coworking spaces

This thesis developed and evaluated strategies for social and ubiquitous computing designs that can enhance connected learning and networking opportunities for users in coworking spaces. Based on a social and a technical design intervention deployed at the State Library of Queensland, the research findings illustrate the potential of combining social, spatial and digital affordances in order to nourish peer-to-peer learning, creativity, inspiration, and innovation. The study proposes a hybrid notion of placemaking as a new way of thinking about the design of coworking and interactive learning spaces.