Articles: disease.
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Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well characterised families. Because of these and other restrictions the genetic basis of many diseases, and diseases in many families, remains unknown. ⋯ Exome sequencing uses DNA-enrichment methods and massively parallel nucleotide sequencing to comprehensively identify and type protein-coding variants throughout the genome. Coupled with growing databases that contain known variants, exome sequencing makes identification of genetic mutations and risk factors possible in families and samples that were deemed insufficiently informative for previous genetic studies. Not only does exome sequencing enable identification of mutations in families that were undetectable with linkage and positional cloning methods, but compared with these methods, it is also much quicker and cheaper. Use of exome sequencing has so far been successful in many rare diseases. WHERE NEXT?: Exome sequencing is being adopted widely and we can expect an abundance of mutation discovery, similar to the deluge of genome-wide-association findings reported over the past 5 years; it is expected to enable the discovery of not only rare causal variants, but also protein-coding risk variants. This method will have application in both the research and clinical arenas and sets the scene for the use of whole-genome sequencing.
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The eye is an easily accessible, highly compartmentalised and immune-privileged organ that offers unique advantages as a gene therapy target. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been implicated as potentially efficacious therapies. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. ⋯ Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Stargardt disease and age-related macular degeneration. Advances have also been made using experimental models for non-retinal diseases, such as uveitis and glaucoma. These methodological advancements are critical for the implementation of additional gene-based therapies for human ocular diseases in the near future.
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Indian J Public Health · Jul 2011
Tobacco use: a major risk factor for non communicable diseases in South-East Asia region.
Tobacco use is a serious public health problem in the South East Asia Region where use of both smoking and smokeless form of tobacco is widely prevalent. The region has almost one quarter of the global population and about one quarter of all smokers in the world. Smoking among men is high in the Region and women usually take to chewing tobacco. ⋯ Out of 5.1 millions tobacco attributable deaths in the world, more than 1 million are in South East Asia Region (SEAR) countries. Reducing tobacco use is one of the best buys along with harmful use of alcohol, salt reduction and promotion of physical activity for preventing NCDs. Integrating tobacco control with broader population services in the health system framework is crucial to achieve control of NCDs and sustain development in SEAR countries.