The revolution in human monogenic disease mapping

The successful completion of the Human Genome Project (HGP) was an unprecedented scientific advance that has become an invaluable resource in the search for genes that cause monogenic and common (polygenic) diseases. Prior to the HGP, linkage analysis had successfully mapped many disease genes for monogenic disorders; however, the limitations of this approach were particularly evident for identifying causative genes in rare genetic disorders affecting lifespan and/or reproductive fitness, such as skeletal dysplasias. In this review, we illustrate the challenges of mapping disease genes in such conditions through the ultra-rare disorder fibrodysplasia ossificans progressiva (FOP) and we discuss the advances that are being made through current massively parallel (“next generation”) sequencing (MPS) technologies.

The case for “n«all”: Why the Big Data revolution will probably happen differently in the mining sector

Big Data and predictive analytics have received significant attention from the media and academic literature throughout the past few years, and it is likely that these emerging technologies will materially impact the mining sector. This short communication argues, however, that these technological forces will probably unfold differently in the mining industry than they have in many other sectors because of significant differences in the marginal cost of data capture and storage. To this end, we offer a brief overview of what Big Data and predictive analytics are, and explain how they are bringing about changes in a broad range of sectors. We discuss the “N=all” approach to data collection being promoted by many consultants and technology vendors in the marketplace but, by considering the economic and technical realities of data acquisition and storage, we then explain why a “n « all” data collection strategy probably makes more sense for the mining sector. Finally, towards shaping the industry’s policies with regards to technology-related investments in this area, we conclude by putting forward a conceptual model for leveraging Big Data tools and analytical techniques that is a more appropriate fit for the mining sector.

Digital revolution or digital divide: Will rural teachers get a piece of the professional development pie?

In order to sustain the rural education community, access to high quality professional development opportunities must become a priority. Teachers in rural areas face many challenges in order to access professional learning equitable to their city counterparts. In the current climate, the Federal government of Australia is committed to initiatives that support the use of ICT in education. These include initiatives such as the Digital Education Revolution, including the National Broadband Network. This "revolution" includes the committal of $2.2 billion funding over six years from 2008 - 2013 which purports to bring substantial and meaningful change to teaching and learning in Australian schools. Of this funding, the Prime Minister (former Minister for Education), Julia Gillard, has committed $40 million of the total budget to ICT related professional development for teachers. But how will rural teachers ensure they get a piece of the PD pie? Access to professional learning is critical and isolation from colleagues, professional associations and support structures can affect the retention of teachers and in turn affect the sustainability of rural communities. This research paper describes the findings of the first phase of a study that investigates access to professional learning from rural and remote areas of Western Australia, the efficiencies of this approach including teacher perceptions and possible opportunities for improvement through the application of technologies. A survey instrument was administered and the results from104 principals and teachers within the Remote Teaching Service and the Country Teaching Program of the Department of Education and Training (WA) are discussed. Qualitative data was collected by semi-structured interviews and emailed questionnaires. Phase One findings highlight the principals and teachers? perceptions of their access to professional development opportunities, professional learning communities and their use of information and communication technologies (ICT) to bridge the gap

Socio-Legal Aspects of the 3D Printing Revolution

Additive manufacturing or ‘3D printing’ has emerged into the mainstream in the last few years, with much hype about its revolutionary potential as the latest ‘disruptive technology’ to destroy existing business models, empower individuals and evade any kind of government control. This book examines the trajectory of 3D printing in practice and how it interacts with various areas of law, including intellectual property, product liability, gun laws, data privacy and fundamental/constitutional rights. A particular comparison is made between 3D printing and the Internet as this has been, legally-speaking, another ‘disruptive technology’ and also one on which 3D printing is partially dependent. This book is the first expert analysis of 3D printing from a legal perspective and provides a critical assessment of the extent to which existing legal regimes can be successfully applied to, and enforced vis-à-vis, 3D printing.