The Sorcerer II expedition: Intellectual property and biodiscovery

This article considers the significance of a leading marine biodiscovery initiative. In March 2004, Dr. J. Craig Venter announced the official launch of the Sorcerer II Expedition, a scientific expedition of discovery, which would survey marine and terrestrial microbial populations. The Expedition has the potential to uncover tens of thousands of new microbial species and tens of millions of new genes. Venter has disavowed that the Sorcerer II Expedition has any commercial ambitions. However, some have viewed the Sorcerer II Expedition with suspicion. Various civil society groups have accused the Expedition of engaging in 'biopiracy'. This article investigates the Convention on Biological Diversity 1992 and other relevant international treaties, various national and regional regimes to govern access to genetic resources, and benefit-sharing agreements. It considers the intersection of intellectual property law, contract law, environmental law, and international law in this field. This article provides a blueprint for a nationally consistent scheme for access to genetic resources, and a model for future international developments.

Designing a quality health information system: Case study analysis of maternal and child health in Papua New Guinea

Papua New Guinea (PNG) is facing what must seem like an insurmountable challenge to deliver quality healthcare servicesfor women living in both rural and urban areas. Glo bal governing bodies and donor agencies including WHO and UN have indicated that PNG does not have an appropriate health information system. Although there are some systems in place, to date, little research has been conducted on improving or resolving the data integrity and integration issues of the existing health information systems and automating the capture of women and newborns information in PNG. This current research study concentrates on the adoption of eHealth, as an innovative tool to strengthen the health information systems in PNG to meet WHO standards. The research targets maternal and child health focussing on child birth records asan exemplar...

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; And causes varying phenotypic severity of osteogenesis imperfecta type V

Background The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V. Methods Sanger sequencing of the IFITM5 5' UTR was performed in our cohort of subjects with a clinical diagnosis of OI type V. Clinical data was collated from referring clinicians. RNA was extracted from a bone sample from one patient and Sanger sequenced to determine expression of wild-type and mutant IFITM5. Results: All nine subjects with OI type V were heterozygous for the c.-14C > T IFITM5 mutation. Clinically, there was heterogeneity in phenotype, particularly in the manifestation of bone fragility amongst subjects. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Conclusions The c.-14C > T IFITM5 mutation does not result in an RNA-null allele but is expressed in bone. Individuals with identical mutations in IFITM5 have highly variable phenotypic expression, even within the same family.

Practice patterns of radiation therapy technology in Australia: Results of a national audit

This article presents the results of a single-day census of radiation therapy (RT) treatment and technology use in Australia. The primary aim of the study was to ascertain patterns of RT practice and technology in use across Australia. These data were primarily collated to inform curriculum development of academic programs, thereby ensuring that training is matched to workforce patterns of practice. Methods: The study design was a census method with all 59 RT centres in Australia being invited to provide quantitative summary data relating to patient case mix and technology use on a randomly selected but common date. Anonymous and demographic-free data were analysed using descriptive statistics. Results: Overall data were provided across all six Australian States by 29 centres of a possible 59, yielding a response rate of 49% and representing a total of 2743 patients. Findings from this study indicate the increasing use of emerging intensity-modulated radiotherapy (IMRT), image fusion and image-guided radiation therapy (IGRT) technology in Australian RT planning and delivery phases. IMRT in particular was used for 37% of patients, indicating a high uptake of the technology in Australia when compared to other published data. The results also highlight the resource-intensive nature of benign tumour radiotherapy. Conclusions: In the absence of routine national data collection, the single-day census method offers a relatively convenient means of measuring and tracking RT resource utilisation. Wider use of this tool has the potential to not only track trends in technology implementation but also inform evidence-based guidelines for referral and resource planning.

5-year Chlamydia vaccination programme could reverse disease-related koala population decline: Predictions from a mathematical model using field data

BACKGROUND Many koala populations around Australia are in serious decline, with a substantial component of this decline in some Southeast Queensland populations attributed to the impact of Chlamydia. A Chlamydia vaccine for koalas is in development and has shown promise in early trials. This study contributes to implementation preparedness by simulating vaccination strategies designed to reverse population decline and by identifying which age and sex category it would be most effective to target. METHODS We used field data to inform the development and parameterisation of an individual-based stochastic simulation model of a koala population endemic with Chlamydia. The model took into account transmission, morbidity and mortality caused by Chlamydia infections. We calibrated the model to characteristics of typical Southeast Queensland koala populations. As there is uncertainty about the effectiveness of the vaccine in real-world settings, a variety of potential vaccine efficacies, half-lives and dosing schedules were simulated. RESULTS Assuming other threats remain constant, it is expected that current population declines could be reversed in around 5-6 years if female koalas aged 1-2 years are targeted, average vaccine protective efficacy is 75%, and vaccine coverage is around 10% per year. At lower vaccine efficacies the immunological effects of boosting become important: at 45% vaccine efficacy population decline is predicted to reverse in 6 years under optimistic boosting assumptions but in 9 years under pessimistic boosting assumptions. Terminating a successful vaccination programme at 5 years would lead to a rise in Chlamydia prevalence towards pre-vaccination levels. CONCLUSION For a range of vaccine efficacy levels it is projected that population decline due to endemic Chlamydia can be reversed under realistic dosing schedules, potentially in just 5 years. However, a vaccination programme might need to continue indefinitely in order to maintain Chlamydia prevalence at a sufficiently low level for population growth to continue.

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

Aims/hypothesis Diabetic retinopathy is a serious complication of diabetes mellitus and can lead to blindness. A genetic component, in addition to traditional risk factors, has been well described although strong genetic factors have not yet been identified. Here, we aimed to identify novel genetic risk factors for sight-threatening diabetic retinopathy using a genome-wide association study. Methods Retinopathy was assessed in white Australians with type 2 diabetes mellitus. Genome-wide association analysis was conducted for comparison of cases of sight-threatening diabetic retinopathy (n = 336) with diabetic controls with no retinopathy (n = 508). Top ranking single nucleotide polymorphisms were typed in a type 2 diabetes replication cohort, a type 1 diabetes cohort and an Indian type 2 cohort. A mouse model of proliferative retinopathy was used to assess differential expression of the nearby candidate gene GRB2 by immunohistochemistry and quantitative western blot. Results The top ranked variant was rs3805931 with p = 2.66 × 10−7, but no association was found in the replication cohort. Only rs9896052 (p = 6.55 × 10−5) was associated with sight-threatening diabetic retinopathy in both the type 2 (p = 0.035) and the type 1 (p = 0.041) replication cohorts, as well as in the Indian cohort (p = 0.016). The study-wide meta-analysis reached genome-wide significance (p = 4.15 × 10−8). The GRB2 gene is located downstream of this variant and a mouse model of retinopathy showed increased GRB2 expression in the retina. Conclusions/interpretation Genetic variation near GRB2 on chromosome 17q25.1 is associated with sight-threatening diabetic retinopathy. Several genes in this region are promising candidates and in particular GRB2 is upregulated during retinal stress and neovascularisation.

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

Background To date, no genome-wide association study (GWAS) has considered the combined phenotype of asthma with hay fever. Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma without hay fever. Objective We sought to perform a GWAS of asthma with hay fever to identify variants associated with having both diseases. Methods We performed a meta-analysis of GWASs comparing persons with both physician-diagnosed asthma and hay fever (n = 6,685) with persons with neither disease (n = 14,091). Results At genome-wide significance, we identified 11 independent variants associated with the risk of having asthma with hay fever, including 2 associations reaching this level of significance with allergic disease for the first time: ZBTB10 (rs7009110; odds ratio [OR], 1.14; P = 4 × 10−9) and CLEC16A (rs62026376; OR, 1.17; P = 1 × 10−8). The rs62026376:C allele associated with increased asthma with hay fever risk has been found to be associated also with decreased expression of the nearby DEXI gene in monocytes. The 11 variants were associated with the risk of asthma and hay fever separately, but the estimated associations with the individual phenotypes were weaker than with the combined asthma with hay fever phenotype. A variant near LRRC32 was a stronger risk factor for hay fever than for asthma, whereas the reverse was observed for variants in/near GSDMA and TSLP. Single nucleotide polymorphisms with suggestive evidence for association with asthma with hay fever risk included rs41295115 near IL2RA (OR, 1.28; P = 5 × 10−7) and rs76043829 in TNS1 (OR, 1.23; P = 2 × 10−6). Conclusion By focusing on the combined phenotype of asthma with hay fever, variants associated with the risk of allergic disease can be identified with greater efficiency.

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children’s ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child’s cognitive abilities at age twelve.

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

We report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at TMCO1 (rs4656461[G] odds ratio (OR) = 1.68, P = 6.1 × 10-10) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 × 10-9). We replicated these associations in an independent cohort of cases with advanced OAG (rs4656461 P = 0.010; rs4977756 P = 0.042) and two additional cohorts of less severe OAG (rs4656461 combined discovery and replication P = 6.00 × 10-14, OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 × 10-14, OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. © 2011 Nature America, Inc. All rights reserved.

Exploring collaborative modeling of business processes on large interactive touch display walls - video

Analyzing and redesigning business processes is a complex task, which requires the collaboration of multiple actors. Current approaches focus on collaborative modeling workshops where process stakeholders verbally contribute their perspective on a process while modeling experts translate their contributions and integrate them into a model using traditional input devices. Limiting participants to verbal contributions not only affects the outcome of collaboration but also collaboration itself. We created CubeBPM – a system that allows groups of actors to interact with process models through a touch based interface on a large interactive touch display wall. We are currently in the process of conducting a study that aims at assessing the impact of CubeBPM on collaboration and modeling performance. Initial results presented in this paper indicate that the setting helped participants to become more active in collaboration.

Exploring collaborative modeling of business processes on large interactive touch display walls

Analyzing and redesigning business processes is a complex task, which requires the collaboration of multiple actors. Current approaches focus on collaborative modeling workshops where process stakeholders verbally contribute their perspective on a process while modeling experts translate their contributions and integrate them into a model using traditional input devices. Limiting participants to verbal contributions not only affects the outcome of collaboration but also collaboration itself. We created CubeBPM – a system that allows groups of actors to interact with process models through a touch based interface on a large interactive touch display wall. We are currently in the process of conducting a study that aims at assessing the impact of CubeBPM on collaboration and modeling performance. Initial results presented in this paper indicate that the setting helped participants to become more active in collaboration.

Towards collaborative modeling of business processes on large interactive touch display walls

Analyzing and redesigning business processes is a complex task, which requires the collaboration of multiple actors. Current approaches focus on workshops where process stakeholders together with modeling experts create a graphical visualization of a process in a model. Within these workshops, stakeholders are mostly limited to verbal contributions, which are integrated into a process model by a modeling expert using traditional input devices. This limitation negatively affects the collaboration outcome and also the perception of the collaboration itself. In order to overcome this problem we created CubeBPM – a system that allows groups of actors to interact with process models through a touch based interface on a large interactive touch display wall. Using this system for collaborative modeling, we expect to provide a more effective collaboration environment thus improving modeling performance and collaboration.

Echoes: World music from Queensland

Research background: Echoes-World Music in Queensland is a full-length album produced in collaboration with the Brisbane Multicultural Arts Centre (BEMAC). The project involved the recording and production of 13 different artists’ original compositions and arrangements of traditional works, drawing on hybrid digital-analog production techniques. The recording of the album was informed by prior scholarly work by Taylor, Feld, Wong and others. These existing studies have discussed the complexities of intercultural collaboration, and the types of cultural politics that are involved in the recording and distribution of what has been known by the term ‘World Music.’ Aspects of applied ethnomusicology have informed the creative work, as a means of interpreting the implicit and explicit complexities that arise through the recording and dissemination of intercultural creative practice. The project asked the research question, in what ways is intercultural music making effected by collaborative practices in the recording studio? Research contribution: This project has identified that the recording and production of intercultural music making involves a complex amalgam of aspects of live or ‘authentic’ performance practices, alongside highly mediated production practices that are influenced by new forms of digital recording technology. Research significance: The compact disc was launched at a live performance showcase as part of the 2014 Big Sound music industry conference, and was added to feature album rotation for all Virgin Australia flights in February-March 2015. The album has received airplay on Radio National, Edge Radio (Hobart) and Radio Adelaide, and was a Feature Album on PBS FM (Melbourne), 2SER (Sydney), and ArtsoundFM Canberrra. The research context of the work is detailed in Gavin Carfoot (in press), ‘Musical discovery, colonialism and the possibilities of intercultural communication through music’ in Popular Communication.

Mrs Curly and the Norwegian Smoking Pipe

Research background: Mrs Curly and the Norwegian Smoking Pipe is a full-length album and book release, produced in collaboration with renowned multi-instrumentalist Linsey Pollak. The project involved the recording and production of Pollak’s original compositions and arrangements of traditional works, drawing on hybrid digital-analog production techniques. The recording of the album was informed by prior scholarly work by Taylor, Feld, Wong and others. These existing studies have discussed the complexities of intercultural collaboration, and the types of cultural politics that are involved in the recording and distribution of what has been known by the term ‘World Music.’ Aspects of applied ethnomusicology have informed the creative work, as a means of interpreting the implicit and explicit complexities that arise through the recording and dissemination of intercultural creative practice. The project asked the research question, in what ways is intercultural music making effected by collaborative practices in the recording studio? Research contribution: This project has identified that the recording and production of intercultural music making involves a complex amalgam of aspects of live or ‘authentic’ performance practices, alongside highly mediated production practices that are influenced by new forms of digital recording technology. Research significance: The compact disc and book was released and promoted on the Marata Music label. The song ‘Plačam za’ was nominated in the World category of the 2015 Queensland Music Awards. The research context of the work is detailed in Gavin Carfoot, 2015 (in press), ‘Musical discovery, colonialism and the possibilities of intercultural communication through music’ in Popular Communication.