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Computing and Information Systems - Research Publications
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ItemEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndromeFarmer, A ; Ayme, S ; de Heredia, ML ; Maffei, P ; McCafferty, S ; Mlynarski, W ; Nunes, V ; Parkinson, K ; Paquis-Flucklinger, V ; Rohayem, J ; Sinnott, R ; Tillmann, V ; Tranebaerg, L ; Barrett, TG (BMC, 2013-08-27)BACKGROUND: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.
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ItemEnvironmental determinants of islet autoimmunity (ENDIA): a pregnancy to early life cohort study in children at-risk of type 1 diabetesPenno, MAS ; Couper, JJ ; Craig, ME ; Colman, PG ; Rawlinson, WD ; Cotterill, AM ; Jones, TW ; Harrison, LC (BMC, 2013-08-14)BACKGROUND: The incidence of type 1 diabetes has increased worldwide, particularly in younger children and those with lower genetic susceptibility. These observations suggest factors in the modern environment promote pancreatic islet autoimmunity and destruction of insulin-producing beta cells. The Environmental Determinants of Islet Autoimmunity (ENDIA) Study is investigating candidate environmental exposures and gene-environment interactions that may contribute to the development of islet autoimmunity and type 1 diabetes. METHODS/DESIGN: ENDIA is the only prospective pregnancy/birth cohort study in the Southern Hemisphere investigating the determinants of type 1 diabetes in at-risk children. The study will recruit 1,400 unborn infants or infants less than six months of age with a first-degree relative (i.e. mother, father or sibling) with type 1 diabetes, across five Australian states. Pregnant mothers/infants will be followed prospectively from early pregnancy through childhood to investigate relationships between genotype, the development of islet autoimmunity (and subsequently type 1 diabetes), and prenatal and postnatal environmental factors. ENDIA will evaluate the microbiome, nutrition, bodyweight/composition, metabolome-lipidome, insulin resistance, innate and adaptive immune function and viral infections. A systems biology approach will be used to integrate these data. Investigation will be by 3-monthly assessments of the mother during pregnancy, then 3-monthly assessments of the child until 24 months of age and 6-monthly thereafter. The primary outcome measure is persistent islet autoimmunity, defined as the presence of autoantibodies to one or more islet autoantigens on consecutive tests. DISCUSSION: Defining gene-environment interactions that initiate and/or promote destruction of the insulin-producing beta cells in early life will inform approaches to primary prevention of type 1 diabetes. The strength of ENDIA is the prospective, comprehensive and frequent systems-wide profiling from early pregnancy through to early childhood, to capture dynamic environmental exposures that may shape the development of islet autoimmunity. TRIAL REGISTRATION: Australia New Zealand Clinical Trials Registry ACTRN12613000794707.
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ItemDeaths by suicide and their relation to general and psychiatric hospital discharge: 30 year record linkage studyDougall, Nadine ; Lambert, Paul ; Maxwell, Margaret ; Dawson, Alison ; SINNOTT, RICHARD ; McCafferty, Susan ; Morris, Carole ; CLARK, DAVID ; Springbett, Anthea (The Royal College of Psychiatrists, 2013)Background: Studies have rarely explored suicides completed following discharge from pooled hospital settings. Such research might identify additional opportunities for intervention.
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ItemScheduling of scientific workflows in failure-prone hybrid cloud systemsJAVADI, BAHMAN ; Sinnott, Richard O. ; Abawajy, Jemal (John Wiley & Sons, 2013)No abstract available
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ItemDevelopment of an Endocrine Genomics Virtual Research Environment for Australia: Building on SuccessSinnott, RO ; Bruns, L ; Duran, C ; Hu, W ; Jayaputera, G ; Stell, A ; Murgante, B ; Misra, S ; Carlini, M ; Torre, CM ; Nguyen, HQ ; Taniar, D ; Apduhan, BO ; Gervasi, O (SPRINGER-VERLAG BERLIN, 2013)The $47m Australian National eResearch Collaboration Tools and Resources (NeCTAR - www.nectar.org.au) project has recently funded an initiative to establish an Australia-wide endocrine genomics virtual laboratory (endoVL – www.endovl.org.au) covering a range of disorders including type-1, type-2 diabetes, rare diabetes-related disorders, obesity/thyroid disorders, neuroendocrine/adrenal tumours, bone disorders and disorders of sex development. This virtual laboratory will establish a range of targeted databases, clinical registries and support a range of genetically targeted clinical trials leveraging a body of international projects and experiences garnered over many years through a range of EU and MRC funded initiatives. This paper focuses on the plans for endoVL and especially, the systems it leverages in supporting large-scale clinical, collaborative environments.
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ItemThe Urban Research Gateway for Australia: Development of a Federated, Multi-disciplinary Research e-InfrastructureSinnott, RO ; Bayliss, C ; Bromage, AJ ; Galang, GC ; Grazioli, G ; Greenwood, PA ; Macauley, A ; Mannix, D ; Morandini, LF ; Nino-Ruiz, M ; Pettit, CJ ; Tomko, M ; Sarwar, M ; Stimson, RJ ; Voorsluys, WV ; Widjaja, I (CEUR Workshop Proceedings, 2013)
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Iteme-Enabling international cancer research: lessons being learnt in the ENS@T-CANCER ProjectSTELL, ANTHONY ; SINNOTT, RICHARD (IEEE Computer Society Press, 2013)
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ItemDecentralized orchestration of data-centric workflows in Cloud environmentsJAVADI, BAHMAN ; TOMKO, MARTIN ; Sinnott, Richard O. (Elsevier, 2013)Abstract withheld due to copyright
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ItemThe design of a flexible web-based analytical platform for urban researchTomko, M ; Greenwood, P ; Sarwar, M ; Morandini, L ; Stimson, R ; Bayliss, C ; Galang, G ; Nino-Ruiz, M ; Voorsluys, W ; Widjaja, I ; Koetsier, G ; Mannix, D ; Pettit, C ; Sinnott, R (ACM, 2012-12-01)
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ItemTools and Processes to Support the Development of a National Platform for Urban Research: Lessons (Being) Learnt from the AURIN ProjectSinnott, RO ; Bayliss, C ; Morandini, LF ; Tomko, M (Australian Computer Society, 2013)