Rare diseases need a generic approach.
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Biomedical subjects
Publications and source records attributed to Andrew W Knight.
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Rare diseases affect 6%-10% of the population, which equates to about 1.2 million people in Australia having a rare disease. The United States, the European Union and many other nations have coordinated policies and patient advocacy groups for rare diseases as a group. Australia has enacted orphan drug legislation, but there is no coordinated approach either from government or from patient groups. General practitioners see rare diseases commonly, but their role for this group has not been adequately described. People with rare diseases and their families have similar experiences despite their different diagnoses. GPs are well placed to help with these problems. The development of a generic general practice strategy for these patients may improve their overall care.
"Advanced access" is a set of change principles for improved scheduling in office-based health care, widely applied in the United States and in the United Kingdom. Examination of advanced access in two Australian general practices indicates it is feasible in this country and may offer improvements in patient access to care, practice income and workplace conditions. Rigorous evaluations of advanced access are lacking, but in the Australian National Primary Care Collaborative, 300 practices will implement advanced access, providing an opportunity for a rigorous evaluation of these principles.
This unlikely tale of research and development takes us from a Pacific jellyfish to fluorescent green yeast in space, via the high tech world of pharmaceutical screening and an encounter with the YETI. It charts the history of academic research project that through multidisciplinary collaboration and innovation has led to a commercial venture with applications in a number of diverse fields.
An assay capable of simultaneously measuring both general toxicity and more subtle genotoxicity, in aqueous environmental samples, is described. The assay uses eukaryotic (yeast) cells, genetically modified to express a green fluorescent protein (GFP) whenever DNA damage, as a result of exposure to genotoxic agents, is repaired. A measure of the reduction in cell proliferation is used to characterise general toxicity producing familiar EC(50) and LOEC data. The assay protocol has been developed for proposed use in the field and hence employs dedicated, portable instrumentation, the development of which is described. A range of environmentally relevant substances has been evaluated using the assay, including solutions of metal ions, solvents and pesticides. Preliminary data comparing the yeast assay's response to that of a standard Daphnia test in the analysis of the toxicity of 34 varied industrial waste effluents are also presented. The sensitivity to a wide range of substances and effluents suggests the assay should be useful for environmental toxicity monitoring.
An unconventional use for the polarization optics, associated with a variety of commercially available fluorescence microplate readers, is reported. This novel application has allowed the discrimination of green fluorescent protein (GFP) fluorescence in genetically modified yeast cells from interfering autofluorescent species. The method exploits the unusually high fluorescence anisotropy of GFP compared to smaller fluorophores and autofluorescent species. The principle was successfully applied to resolve the induced GFP signal from that of autofluorescent test compounds, in an assay for genotoxic species. The use of fluorescence polarization enabled both proflavin and methapyrilene to be identified as genotoxic agents in the yeast assay. This would not have been possible using conventional fluorescence alone since these compounds were found to be intensely autofluorescent at the same wavelength as GFP and thus effectively mask the GFP signal.